Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 200 (10 Feb 2021)
Sequence version 2 (11 Jan 2011)
Previous versions | rss
Add a publicationFeedback
Protein

Wolframin

Gene

WFS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Participates in the regulation of cellular Ca2+ homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca2+ store.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O76024

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275, Post-translational protein phosphorylation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O76024

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.57.1.1, the wofram syndrom or wolframin (wolframin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Wolframin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WFS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12762, WFS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606201, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O76024

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000109501.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Transmembranei402 – 422HelicalSequence analysisAdd BLAST21
Transmembranei427 – 447HelicalSequence analysisAdd BLAST21
Transmembranei465 – 485HelicalSequence analysisAdd BLAST21
Transmembranei496 – 516HelicalSequence analysisAdd BLAST21
Transmembranei529 – 549HelicalSequence analysisAdd BLAST21
Transmembranei563 – 583HelicalSequence analysisAdd BLAST21
Transmembranei589 – 609HelicalSequence analysisAdd BLAST21
Transmembranei632 – 652HelicalSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini653 – 869LumenalSequence analysisAdd BLAST217
Transmembranei870 – 890HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Wolfram syndrome 1 (WFS1)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01130558A → V in WFS1. 1 PublicationCorresponds to variant dbSNP:rs369671890EnsemblClinVar.1
Natural variantiVAR_029499110Y → N in WFS1. 1 Publication1
Natural variantiVAR_011306126A → T in WFS1. 1 PublicationCorresponds to variant dbSNP:rs145639028EnsemblClinVar.1
Natural variantiVAR_014034133A → T in WFS1. 1 PublicationCorresponds to variant dbSNP:rs372249044Ensembl.1
Natural variantiVAR_009109169E → K in WFS1. Corresponds to variant dbSNP:rs148953711EnsemblClinVar.1
Natural variantiVAR_009110292P → S in WFS1. Corresponds to variant dbSNP:rs746923441Ensembl.1
Natural variantiVAR_009111296I → S in WFS1. 1
Natural variantiVAR_011307350Missing in WFS1. 1 Publication1
Natural variantiVAR_009112354Missing in WFS1. 1 Publication1
Natural variantiVAR_029501414Missing in WFS1. 1 Publication1
Natural variantiVAR_009113415Missing in WFS1; greatly reduces protein expression compared to wild-type. 2 Publications1
Natural variantiVAR_009114437G → R in WFS1. Corresponds to variant dbSNP:rs147974629Ensembl.1
Natural variantiVAR_011308443S → I in WFS1. 1 Publication1
Natural variantiVAR_029502457R → S in WFS1. 1 PublicationCorresponds to variant dbSNP:rs113446173EnsemblClinVar.1
Natural variantiVAR_014035461 – 463Missing in WFS1. 1 Publication3
Natural variantiVAR_029503468Missing in WFS1. 1 Publication1
Natural variantiVAR_005842504P → L in WFS1. 3 PublicationsCorresponds to variant dbSNP:rs28937892EnsemblClinVar.1
Natural variantiVAR_014036508 – 512Missing in WFS1. 1 Publication5
Natural variantiVAR_029504540Missing in WFS1. 1 Publication1
Natural variantiVAR_068343558R → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs199946797EnsemblClinVar.1
Natural variantiVAR_009115567 – 568Missing in WFS1. 2
Natural variantiVAR_029505629R → W in WFS1. 1 PublicationCorresponds to variant dbSNP:rs71530910Ensembl.1
Natural variantiVAR_014038669Y → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs1402999203Ensembl.1
Natural variantiVAR_009116690C → R in WFS1. Corresponds to variant dbSNP:rs754373473Ensembl.1
Natural variantiVAR_005844695G → V in WFS1. 1 PublicationCorresponds to variant dbSNP:rs28937891EnsemblClinVar.1
Natural variantiVAR_009117700W → C in WFS1. 1
Natural variantiVAR_005845724P → L in WFS1. 1 PublicationCorresponds to variant dbSNP:rs28937890Ensembl.1
Natural variantiVAR_009118736G → S in WFS1. 1 PublicationCorresponds to variant dbSNP:rs71532864Ensembl.1
Natural variantiVAR_011313780G → R in WFS1. 1 Publication1
Natural variantiVAR_011314818R → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs35932623EnsemblClinVar.1
Natural variantiVAR_009119885P → L in WFS1; mild form. Corresponds to variant dbSNP:rs372855769Ensembl.1
Deafness, autosomal dominant, 6 (DFNA6)9 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074210171D → N in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs758281375Ensembl.1
Natural variantiVAR_032963634K → T in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs104893882EnsemblClinVar.1
Natural variantiVAR_014037653R → C in DFNA6; also found in a patient with type 2 diabetes; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs201064551EnsemblClinVar.1
Natural variantiVAR_074211669Y → H in DFNA6. 1 Publication1
Natural variantiVAR_080401680Missing in DFNA6; unknown pathological significance. 1 Publication1
Natural variantiVAR_074212685R → P in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs142668478EnsemblClinVar.1
Natural variantiVAR_074213696H → Y in DFNA6. 1 Publication1
Natural variantiVAR_032964699T → M in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs28937894EnsemblClinVar.1
Natural variantiVAR_074214703R → H in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs1323852277Ensembl.1
Natural variantiVAR_032965716A → T in DFNA6. 2 PublicationsCorresponds to variant dbSNP:rs28937893EnsemblClinVar.1
Natural variantiVAR_032966779V → M in DFNA6; benign variant. 1 PublicationCorresponds to variant dbSNP:rs141328044EnsemblClinVar.1
Natural variantiVAR_032967829L → P in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs104893883EnsemblClinVar.1
Natural variantiVAR_032968831G → D in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs28937895EnsemblClinVar.1
Natural variantiVAR_068347859R → Q in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs121912618EnsemblClinVar.1
Wolfram-like syndrome autosomal dominant (WFSL)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011310684A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs387906930EnsemblClinVar.1
Natural variantiVAR_068344780G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906931EnsemblClinVar.1
Natural variantiVAR_068345797D → Y in WFSL. 1 Publication1
Natural variantiVAR_068346836K → N in WFSL. 1 PublicationCorresponds to variant dbSNP:rs876657675EnsemblClinVar.1
Natural variantiVAR_032969864E → K in WFSL. 1 PublicationCorresponds to variant dbSNP:rs74315205EnsemblClinVar.1
Cataract 41 (CTRCT41)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070935462E → G in CTRCT41. 1 PublicationCorresponds to variant dbSNP:rs398123066EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Diabetes insipidus, Diabetes mellitus, Disease variant, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
7466

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
WFS1

MalaCards human disease database

More...
MalaCardsi
WFS1
MIMi116400, phenotype
222300, phenotype
600965, phenotype
614296, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109501

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
98991, Early-onset nuclear cataract
3463, Wolfram syndrome
411590, Wolfram-like syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37365

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O76024, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WFS1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000659631 – 890WolframinAdd BLAST890

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei30Phosphothreonine; by FAM20C1 Publication1
Modified residuei32Phosphoserine; by FAM20CCombined sources1 Publication1
Modified residuei157PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi661N-linked (GlcNAc...) asparagineCurated1
Glycosylationi746N-linked (GlcNAc...) asparagineCurated1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O76024

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O76024

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O76024

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O76024

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O76024

PeptideAtlas

More...
PeptideAtlasi
O76024

PRoteomics IDEntifications database

More...
PRIDEi
O76024

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50349

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1903, 4 N-Linked glycans (2 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O76024, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O76024

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O76024

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O76024

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109501, Expressed in nucleus accumbens and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O76024, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O76024, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000109501, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

O76024
With#Exp.IntAct
ABCG4 [Q9H172]3EBI-720609,EBI-8584118
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-720609,EBI-10173507
AGA [P20933]3EBI-720609,EBI-1223922
AK3 [Q9UIJ7]3EBI-720609,EBI-3916527
AKR1A1 [P14550]3EBI-720609,EBI-372388
ALB - isoform 3 [P02768-3]3EBI-720609,EBI-25830928
ANAPC13 [Q9BS18]3EBI-720609,EBI-2555953
ANKRD13D - isoform 2 [Q6ZTN6-2]3EBI-720609,EBI-25840993
ANKRD44 - isoform 2 [Q8N8A2-2]3EBI-720609,EBI-21636328
ANP32B [Q92688]3EBI-720609,EBI-762428
ANXA5 [P08758]3EBI-720609,EBI-296601
ANXA8 [P13928]3EBI-720609,EBI-2556915
APLN [D3DTF8]3EBI-720609,EBI-22002556
APP [P05067]3EBI-720609,EBI-77613
AQP6 [Q13520]3EBI-720609,EBI-13059134
AQP8 [O94778]3EBI-720609,EBI-19124986
ARFGAP3 [Q9NP61]3EBI-720609,EBI-2875816
ARNT2 [Q86TN1]3EBI-720609,EBI-25844820
ASB3 - isoform 3 [Q9Y575-3]3EBI-720609,EBI-14199987
ASCL4 [Q6XD76]3EBI-720609,EBI-10254793
ASIC4 - isoform 2 [Q96FT7-2]3EBI-720609,EBI-25898949
ASIC4 - isoform 3 [Q96FT7-4]3EBI-720609,EBI-9089489
ATP6V1B1 [P15313]3EBI-720609,EBI-2891281
ATP6V1B2 [P21281]3EBI-720609,EBI-4290814
BAG3 [O95817]3EBI-720609,EBI-747185
BAG6 - isoform 2 [P46379-2]3EBI-720609,EBI-10988864
BAIAP2 - isoform 6 [Q9UQB8-6]3EBI-720609,EBI-9092016
BAP18 [Q8IXM2]3EBI-720609,EBI-4280811
BATF [Q16520]3EBI-720609,EBI-749503
BBX - isoform 3 [Q8WY36-3]3EBI-720609,EBI-22013474
BCL2L13 [Q9BXK5]3EBI-720609,EBI-747430
BECN1 [Q14457]3EBI-720609,EBI-949378
BMF [Q96LC9]3EBI-720609,EBI-3919268
BPESC1 [Q9GZL8]3EBI-720609,EBI-25861458
BRWD1 - isoform D [Q9NSI6-4]3EBI-720609,EBI-10693038
BSND [Q8WZ55]3EBI-720609,EBI-7996695
BTRC [Q9Y297]3EBI-720609,EBI-307461
C11orf54 - isoform 4 [Q9H0W9-4]3EBI-720609,EBI-25849710
C12orf74 [Q32Q52]3EBI-720609,EBI-12891828
C19orf57 [Q0VDD7]3EBI-720609,EBI-741210
C1D [Q13901]3EBI-720609,EBI-3844053
C1orf216 [Q8TAB5]3EBI-720609,EBI-747505
C21orf29 [Q14C60]3EBI-720609,EBI-22013264
C22orf39 - isoform 2 [Q6P5X5-2]3EBI-720609,EBI-10692329
C2orf49 [Q9BVC5]3EBI-720609,EBI-5458641
C7orf50 [Q9BRJ6]3EBI-720609,EBI-751612
C8orf48 [Q96LL4]3EBI-720609,EBI-751596
CAMK1G [Q96NX5]3EBI-720609,EBI-3920838
CAMKK1 - isoform 2 [Q8N5S9-2]3EBI-720609,EBI-25850646
CASP1 - isoform Gamma [P29466-3]3EBI-720609,EBI-12248206
CCAR2 [Q8N163]3EBI-720609,EBI-355410
CCDC141 [Q6ZP82]3EBI-720609,EBI-928795
CCDC17 - isoform 2 [Q96LX7-5]3EBI-720609,EBI-12165781
CCDC196 [A0A1B0GWI1]3EBI-720609,EBI-10181422
CCDC88C [A0A0A0MR69]3EBI-720609,EBI-12954453
CCDC9 [Q9Y3X0]3EBI-720609,EBI-2557532
CCNE2 [O96020]3EBI-720609,EBI-375033
CCT2 [P78371]3EBI-720609,EBI-357407
CD79A [P11912]3EBI-720609,EBI-7797864
CDCA7 [Q9BWT1]3EBI-720609,EBI-7054803
CDKAL1 [Q5VV42]3EBI-720609,EBI-10194801
CFAP100 - isoform 2 [Q494V2-2]3EBI-720609,EBI-11953200
CHCHD3 [Q9NX63]3EBI-720609,EBI-743375
CHD1 - isoform 2 [O14646-2]3EBI-720609,EBI-10961487
CIAO2B [Q9Y3D0]3EBI-720609,EBI-744045
CITED2 [Q99967]3EBI-720609,EBI-937732
CKMT1B [P12532]3EBI-720609,EBI-1050662
CLEC11A [Q9Y240]3EBI-720609,EBI-3957044
CLEC2D - isoform 2 [Q9UHP7-3]3EBI-720609,EBI-11749983
CLINT1 [Q14677]3EBI-720609,EBI-1171113
CLIP3 [Q96DZ5]3EBI-720609,EBI-12823145
CLPP [Q16740]3EBI-720609,EBI-1056029
CMSS1 [Q9BQ75]3EBI-720609,EBI-395649
CNPY3 [Q9BT09]3EBI-720609,EBI-2835965
CNST - isoform 3 [Q6PJW8-3]3EBI-720609,EBI-25836090
COCH - isoform 2 [O43405-2]3EBI-720609,EBI-25896722
COMT [P21964]3EBI-720609,EBI-372265
COPS2 [P61201]3EBI-720609,EBI-1050386
CRIPT [Q9P021]3EBI-720609,EBI-946968
CSTA [P01040]3EBI-720609,EBI-724303
CXorf38 [Q8TB03]3EBI-720609,EBI-12024320
CYB5A [P00167]3EBI-720609,EBI-1047284
CYFIP1 [Q7L576]3EBI-720609,EBI-1048143
DALRD3 - isoform 2 [Q5D0E6-2]3EBI-720609,EBI-9090939
DCAF8 - isoform 2 [Q5TAQ9-2]3EBI-720609,EBI-25842815
DCLRE1B [Q9H816]3EBI-720609,EBI-3508943
DDX39A [O00148]3EBI-720609,EBI-348253
DENND2B [P78524]3EBI-720609,EBI-962633
DENND2C - isoform 2 [Q68D51-2]3EBI-720609,EBI-13075846
DISP1 [Q96F81]3EBI-720609,EBI-10230179
DKFZp547K2416 [Q8NDP9]3EBI-720609,EBI-25842538
DLGAP2 - isoform 3 [Q9P1A6-3]3EBI-720609,EBI-12019838
DMRTA1 [Q5VZB9]3EBI-720609,EBI-3939812
DNAJC4 [Q9NNZ3]3EBI-720609,EBI-4397791
DNASE1L1 [P49184]3EBI-720609,EBI-20894690
DNMT3A [Q9Y6K1]3EBI-720609,EBI-923653
DOK3 - isoform 3 [Q7L591-3]3EBI-720609,EBI-10694655
DOM3Z [A0A024RCP2]3EBI-720609,EBI-25847826
DPYSL4 [O14531]3EBI-720609,EBI-719542
DPYSL5 [Q9BPU6]3EBI-720609,EBI-724653
DUSP16 [Q9BY84]3EBI-720609,EBI-3443956
DVL3 [Q92997]3EBI-720609,EBI-739789
DYNLT1 [P63172]3EBI-720609,EBI-1176455
ECRG4 [Q9H1Z8]3EBI-720609,EBI-12208839
EDRF1 [Q3B7T1]3EBI-720609,EBI-2870947
EIF3F [O00303]3EBI-720609,EBI-711990
EIF5B [O60841]3EBI-720609,EBI-928530
EPN3 [I6L9I8]3EBI-720609,EBI-12866582
EPS8L1 - isoform 3 [Q8TE68-3]3EBI-720609,EBI-21574901
EPS8L2 [Q9H6S3]3EBI-720609,EBI-3940939
ERCC6L [Q2NKX8]3EBI-720609,EBI-1042535
ESM1 [Q9NQ30]3EBI-720609,EBI-12260294
ESR1 [P03372]3EBI-720609,EBI-78473
ESRP1 [Q6NXG1]3EBI-720609,EBI-10213520
EVL - isoform 1 [Q9UI08-2]3EBI-720609,EBI-6448852
EWSR1 - isoform 4 [Q01844-4]3EBI-720609,EBI-25896785
EXOC5 [O00471]3EBI-720609,EBI-949824
EYA3 [Q99504]3EBI-720609,EBI-9089567
FABP7 [O15540]3EBI-720609,EBI-10697159
FAHD1 - isoform 2 [Q6P587-2]3EBI-720609,EBI-12902289
FAM111B [Q6SJ93]3EBI-720609,EBI-6309082
FAM117B [Q6P1L5]3EBI-720609,EBI-3893327
FAM135B - isoform 4 [Q49AJ0-4]3EBI-720609,EBI-25835236
FAM163A [Q96GL9]3EBI-720609,EBI-11793142
FAM209A [Q5JX71]3EBI-720609,EBI-18304435
FAM74A6 [Q5TZK3]3EBI-720609,EBI-10247271
FAM76B - isoform 3 [Q5HYJ3-3]3EBI-720609,EBI-11956087
FAM98C [Q17RN3]3EBI-720609,EBI-5461838
FAM9A [Q8IZU1]3EBI-720609,EBI-8468186
FANCG [O15287]3EBI-720609,EBI-81610
FANK1 [Q8TC84]3EBI-720609,EBI-21975404
FASTKD1 [Q53R41]3EBI-720609,EBI-3957005
FBH1 [Q8NFZ0]3EBI-720609,EBI-724767
FBLN5 [Q9UBX5]3EBI-720609,EBI-947897
FBXO4 [Q9UKT5]3EBI-720609,EBI-960409
FBXO42 [Q6P3S6]3EBI-720609,EBI-2506081
FEZ2 [Q9UHY8]3EBI-720609,EBI-396453
FOSL1 [P15407]3EBI-720609,EBI-744510
FTL [P02792]3EBI-720609,EBI-713279
G2E3 [Q7L622]3EBI-720609,EBI-751757
G6PC [P35575]3EBI-720609,EBI-3906612
GALNT6 [Q8NCL4]3EBI-720609,EBI-3907241
GATA1 - isoform 2 [P15976-2]3EBI-720609,EBI-9090198
GATA2 - isoform 2 [P23769-2]3EBI-720609,EBI-21856389
GFAP [P14136]3EBI-720609,EBI-744302
GFOD1 [Q9NXC2]3EBI-720609,EBI-8799578
GLI4 [P10075]3EBI-720609,EBI-14061927
GNE - isoform 2 [Q9Y223-2]3EBI-720609,EBI-11975289
GOLGA2P5 [Q9HBQ8]3EBI-720609,EBI-22000587
GPANK1 [O95872]3EBI-720609,EBI-751540
GPC3 [Q8IYG2]3EBI-720609,EBI-25896879
GPR141 [Q7Z602]3EBI-720609,EBI-21649723
GPR89B [P0CG08]3EBI-720609,EBI-11905631
GPSM3 [Q9Y4H4]3EBI-720609,EBI-347538
GRIK2 [Q8IY40]3EBI-720609,EBI-25832107
H2AP [O75409]3EBI-720609,EBI-6447217
H3-5 [Q6NXT2]3EBI-720609,EBI-2868501
H3C12 [P68431]3EBI-720609,EBI-79722
hCG_2001421 [A8K0U2]3EBI-720609,EBI-25843825
hCG_41307 [A0A024R1L7]3EBI-720609,EBI-25849938
HCK - isoform 2 [P08631-2]3EBI-720609,EBI-9834454
HHEX [Q03014]3EBI-720609,EBI-747421
HK3 [P52790]3EBI-720609,EBI-2965780
HMMR - isoform 3 [O75330-3]3EBI-720609,EBI-12098658
HNRNPDL [O14979]3EBI-720609,EBI-299727
HSPBAP1 - isoform 2 [Q96EW2-2]3EBI-720609,EBI-25835621
IFT20 - isoform 3 [Q8IY31-3]3EBI-720609,EBI-9091197
IGFBP4 [P22692]3EBI-720609,EBI-2831948
IL16 - isoform 2 [Q14005-2]3EBI-720609,EBI-17178971
IL18RAP [O95256]4EBI-720609,EBI-21018056
IL4I1 [Q96RQ9]3EBI-720609,EBI-20831744
ILF3 [Q9NXX0]3EBI-720609,EBI-743980
ING4 [Q9UNL4]3EBI-720609,EBI-2866661
ING5 - isoform 2 [Q8WYH8-2]3EBI-720609,EBI-21602071
IQCF2 [Q8IXL9]3EBI-720609,EBI-10238842
IQUB [Q8NA54]3EBI-720609,EBI-10220600
IRAG1 - isoform 3 [Q9Y6F6-3]3EBI-720609,EBI-25840037
ISCA2 [Q86U28]3EBI-720609,EBI-10258659
JMJD7 [P0C870]3EBI-720609,EBI-9090173
KBTBD4 - isoform 2 [Q9NVX7-2]3EBI-720609,EBI-25871195
KCNMB2 [Q9Y691]3EBI-720609,EBI-7932244
KCTD13 [Q8WZ19]3EBI-720609,EBI-742916
KCTD15 - isoform 2 [Q96SI1-2]3EBI-720609,EBI-12382297
KDSR [Q06136]3EBI-720609,EBI-3909166
KEAP1 [Q14145]3EBI-720609,EBI-751001
KIAA0040 [A0A384DVV8]3EBI-720609,EBI-20764875
KIAA0408 [Q6ZU52]3EBI-720609,EBI-739493
KIF1A [Q12756]3EBI-720609,EBI-2679809
KLF15 [Q9UIH9]3EBI-720609,EBI-2796400
KLF3 [P57682]3EBI-720609,EBI-8472267
KLHL20 [Q9Y2M5]3EBI-720609,EBI-714379
KRT19 [P08727]3EBI-720609,EBI-742756
KRT222 [Q8N1A0]3EBI-720609,EBI-8473062
KRT33B [Q14525]3EBI-720609,EBI-1049638
KRTAP13-3 [Q3SY46]3EBI-720609,EBI-10241252
KRTAP19-7 [Q3SYF9]3EBI-720609,EBI-10241353
KRTAP8-1 [Q8IUC2]3EBI-720609,EBI-10261141
LASP1 - isoform 2 [Q14847-2]3EBI-720609,EBI-9088686
LCA5L [O95447]3EBI-720609,EBI-8473670
LCAT [P04180]3EBI-720609,EBI-9104464
LCE1B [Q5T7P3]3EBI-720609,EBI-10245913
LCE2A [Q5TA79]3EBI-720609,EBI-10246607
LENG8 [Q96PV6]3EBI-720609,EBI-739546
LGALS8 [O00214]3EBI-720609,EBI-740058
LHX6 [Q9UPM6]3EBI-720609,EBI-10258746
LHX8 [Q68G74]3EBI-720609,EBI-8474075
LNX2 [Q8N448]3EBI-720609,EBI-2340947
LOC401296 [A2RU56]3EBI-720609,EBI-9088215
LOXL4 [Q96JB6]3EBI-720609,EBI-749562
LPIN1 [Q14693]3EBI-720609,EBI-5278370
LVRN - isoform 4 [Q6Q4G3-4]3EBI-720609,EBI-25862057
MAF1 [Q9H063]3EBI-720609,EBI-720354
MAGEB18 [Q96M61]3EBI-720609,EBI-741835
MALT1 - isoform 2 [Q9UDY8-2]3EBI-720609,EBI-12056869
MAP2K6 [P52564]3EBI-720609,EBI-448135
MAX - isoform 4 [P61244-4]3EBI-720609,EBI-25848049
MBD4 - isoform 2 [O95243-2]3EBI-720609,EBI-6448717
MBIP - isoform 4 [Q9NS73-5]3EBI-720609,EBI-10182361
MCF2L - isoform 4 [O15068-4]3EBI-720609,EBI-21375623
MECOM - isoform 9 [Q03112-9]3EBI-720609,EBI-23820194
MECP2 [P51608]3EBI-720609,EBI-1189067
MED22 - isoform Surf5A [Q15528-2]3EBI-720609,EBI-12954271
METTL27 [Q8N6F8]3EBI-720609,EBI-8487781
MIS18A [Q9NYP9]3EBI-720609,EBI-1104552
MLC1 [Q15049]3EBI-720609,EBI-8475277
MLST8 [A0A0A0MR05]3EBI-720609,EBI-25835557
MOGAT3 - isoform 3 [Q86VF5-3]3EBI-720609,EBI-25840143
MPND [Q8N594]3EBI-720609,EBI-2512452
MPP5 [Q8N3R9]3EBI-720609,EBI-2513978
MRFAP1 [Q9Y605]3EBI-720609,EBI-995714
MRFAP1L1 [Q96HT8]3EBI-720609,EBI-748896
MRPS17 [Q9Y2R5]3EBI-720609,EBI-1046443
MSH5 - isoform 4 [O43196-4]3EBI-720609,EBI-25860238
MSL3 [Q8N5Y2]3EBI-720609,EBI-2560796
MSRB3 - isoform 2 [Q8IXL7-2]3EBI-720609,EBI-10699187
MYLK2 [Q9H1R3]3EBI-720609,EBI-356910
MYLPF [Q96A32]3EBI-720609,EBI-1390771
NAALAD2 [Q9Y3Q0]3EBI-720609,EBI-2863682
NCLN [Q969V3]3EBI-720609,EBI-1056979
NDN [Q99608]3EBI-720609,EBI-718177
NDUFAF4 [Q9P032]3EBI-720609,EBI-2606839
NDUFS1 - isoform 5 [P28331-5]3EBI-720609,EBI-25876328
NEFL [I6L9F6]3EBI-720609,EBI-10178578
NGEF [Q8N5V2]3EBI-720609,EBI-718372
NLRP1 [Q96AM0]3EBI-720609,EBI-25860999
NOTCH1 [Q6IAD4]3EBI-720609,EBI-25860267
NPFF - isoform 2 [O15130-2]3EBI-720609,EBI-25840002
NR1D2 [Q14995]3EBI-720609,EBI-6144053
NSMF - isoform 6 [Q6X4W1-6]3EBI-720609,EBI-25842707
NUDT1 - isoform p18 [P36639-4]3EBI-720609,EBI-25834643
NUDT4 [Q9NZJ9]3EBI-720609,EBI-4280066
NUFIP2 [Q7Z417]3EBI-720609,EBI-1210753
NVL - isoform 5 [O15381-5]3EBI-720609,EBI-18577082
ODF2 - isoform 2 [Q5BJF6-2]3EBI-720609,EBI-9090919
OIP5 [O43482]3EBI-720609,EBI-536879
OPTN - isoform 2 [Q96CV9-2]3EBI-720609,EBI-9091423
OTUB1 [Q96FW1]3EBI-720609,EBI-1058491
OTUB2 [Q9BWI9]3EBI-720609,EBI-10300896
OTUD7B - isoform 2 [Q6GQQ9-2]3EBI-720609,EBI-25830200
P2RY6 [Q15077]3EBI-720609,EBI-10235794
PABPC3 [Q9H361]3EBI-720609,EBI-1055272
PAK5 [Q9P286]3EBI-720609,EBI-741896
PALM - isoform 2 [O75781-2]3EBI-720609,EBI-16399860
PALMD [Q9NP74]3EBI-720609,EBI-2811699
PATZ1 - isoform 4 [Q9HBE1-4]3EBI-720609,EBI-11022007
PCDHGB1 - isoform 2 [Q9Y5G3-2]3EBI-720609,EBI-21584477
PCMT1 - isoform 2 [P22061-2]3EBI-720609,EBI-12386584
PELO [Q9BRX2]3EBI-720609,EBI-1043580
PER1 [O15534]3EBI-720609,EBI-2557276
PERP [Q96FX8]3EBI-720609,EBI-17183069
PGLYRP3 [Q96LB9]3EBI-720609,EBI-12339509
PHF5A [Q7RTV0]3EBI-720609,EBI-2555365
PHLDA1 [A2BDE7]3EBI-720609,EBI-14084211
PIAS1 [O75925]3EBI-720609,EBI-629434
PIK3R1 - isoform 2 [P27986-2]3EBI-720609,EBI-9090282
PLA2G12A [Q9BZM1]3EBI-720609,EBI-3916751
PLEKHB1 - isoform 2 [Q9UF11-2]3EBI-720609,EBI-12832742
PLEKHG4 - isoform 2 [Q58EX7-2]3EBI-720609,EBI-21503705
PLIN2 [Q99541]3EBI-720609,EBI-2115275
PLPPR1 [Q8TBJ4]3EBI-720609,EBI-18063495
POLB [P06746]3EBI-720609,EBI-713836
POLR3F [Q9H1D9]3EBI-720609,EBI-710067
PP9974 [P09565]3EBI-720609,EBI-10196507
PPTC7 [Q8NI37]3EBI-720609,EBI-9089276
PRKAA2 [P54646]3EBI-720609,EBI-1383852
PRPS1 [P60891]3EBI-720609,EBI-749195
PRPS2 [P11908]3EBI-720609,EBI-4290895
PRUNE2 [A0A0C4DFM3]3EBI-720609,EBI-25830870
PSMA3 - isoform 2 [P25788-2]3EBI-720609,EBI-348394
PSMB1 [P20618]3EBI-720609,EBI-372273
PSMB8 - isoform 2 [P28062-2]3EBI-720609,EBI-372312
PSMC6 [P62333]3EBI-720609,EBI-357669
PSMD5 [Q16401]3EBI-720609,EBI-752143
PTMA [Q8TBK9]3EBI-720609,EBI-1056327
PUM1 [Q14671]3EBI-720609,EBI-948453
PXN [Q7Z7K5]3EBI-720609,EBI-25841978
QARS1 [P47897]3EBI-720609,EBI-347462
RAB11B [Q15907]3EBI-720609,EBI-722234
RAI2 [Q9Y5P3]3EBI-720609,EBI-746228
RBBP6 - isoform 3 [Q7Z6E9-3]3EBI-720609,EBI-11743772
RBM14 [Q96PK6]3EBI-720609,EBI-954272
RBM15B - isoform 2 [Q8NDT2-2]3EBI-720609,EBI-10269922
RBM17 [Q96I25]3EBI-720609,EBI-740272
RCOR3 - isoform 2 [Q9P2K3-2]3EBI-720609,EBI-1504830
RHBDD2 - isoform 3 [Q6NTF9-3]3EBI-720609,EBI-17589229
RHPN1 [Q8TCX5]3EBI-720609,EBI-746325
RMND5A [Q9H871]3EBI-720609,EBI-2797992
RNF10 [Q8N5U6]3EBI-720609,EBI-714023
RNF146 - isoform 2 [Q9NTX7-2]3EBI-720609,EBI-11750630
RNF168 [Q8IYW5]3EBI-720609,EBI-914207
RNF183 [Q96D59]3EBI-720609,EBI-743938
RNF208 [Q9H0X6]3EBI-720609,EBI-751555
RNF38 - isoform 2 [Q9H0F5-2]3EBI-720609,EBI-25866807
RNH1 [P13489]3EBI-720609,EBI-1237106
RPL3 [P39023]3EBI-720609,EBI-1056348
RPS15A [P62244]3EBI-720609,EBI-347895
RPS27A [P62979]3EBI-720609,EBI-357375
RPSA [P08865]3EBI-720609,EBI-354112
RUSC1-AS1 [Q66K80]3EBI-720609,EBI-10248967
RUSF1 [Q96GQ5]3EBI-720609,EBI-8636004
RXYLT1 [Q9Y2B1]3EBI-720609,EBI-3914763
S100P [P25815]3EBI-720609,EBI-743700
SAMD3 - isoform 2 [Q8N6K7-2]3EBI-720609,EBI-11528848
SAMD7 [Q7Z3H4]3EBI-720609,EBI-12148649
SARNP [P82979]3EBI-720609,EBI-347495
SCAMP4 [Q969E2]3EBI-720609,EBI-4403649
SDC2 [P34741]3EBI-720609,EBI-1172957
SDCBP [O00560]3EBI-720609,EBI-727004
SELE [P16581]3EBI-720609,EBI-8007671
SEMA4C [Q9C0C4]3EBI-720609,EBI-10303490
SEMA4G - isoform 3 [Q9NTN9-3]3EBI-720609,EBI-9089805
SENP3 [Q9H4L4]3EBI-720609,EBI-2880236
SEPTIN6 [Q14141]3EBI-720609,EBI-745901
SERINC3 [Q13530]3EBI-720609,EBI-1045571
SH2D1B - isoform 2 [O14796-2]3EBI-720609,EBI-25899828
SH3KBP1 [Q96B97]3EBI-720609,EBI-346595
SHFL - isoform 3 [Q9NUL5-3]3EBI-720609,EBI-22000547
SHLD1 [Q8IYI0]3EBI-720609,EBI-2560428
SHOX2 - isoform 3 [O60902-3]3EBI-720609,EBI-9092164
SIX6OS1 [Q8N1H7]3EBI-720609,EBI-12182077
SKIL [P12757]3EBI-720609,EBI-2902468
SLC13A2 [Q13183]3EBI-720609,EBI-17460043
SLC16A6 [O15403]3EBI-720609,EBI-11041701
SLC3A2 - isoform 4 [P08195-4]3EBI-720609,EBI-12832276
SLCO6A1 - isoform 2 [Q86UG4-2]3EBI-720609,EBI-21657139
SLITRK3 [O94933]3EBI-720609,EBI-20855537
SMTN - isoform B2 [P53814-5]3EBI-720609,EBI-11100581
SMU1 [Q2TAY7]3EBI-720609,EBI-298027
SMURF1 - isoform Short [Q9HCE7-2]3EBI-720609,EBI-9845742
SNAPC3 [Q92966]3EBI-720609,EBI-1760638
SPAG8 - isoform 2 [Q99932-2]3EBI-720609,EBI-11959123
SPATA3 [A0A024R4B0]3EBI-720609,EBI-14123856
SPATA8 [Q6RVD6]3EBI-720609,EBI-8635958
SPINK2 [P20155]3EBI-720609,EBI-10200479
SPPL2A [Q8TCT8]3EBI-720609,EBI-750784
SPRED2 [Q7Z698]3EBI-720609,EBI-7082156
SPRY4 [Q9C004]3EBI-720609,EBI-354861
SRARP [Q8NEQ6]3EBI-720609,EBI-17858294
SRGAP3 [Q8IXS7]3EBI-720609,EBI-18616594
STAM2 [O75886]3EBI-720609,EBI-373258
STOML2 [Q9UJZ1]3EBI-720609,EBI-1044428
STRC [A1L378]3EBI-720609,EBI-22013242
STT3A [P46977]3EBI-720609,EBI-719212
STUB1 [Q9UNE7]3EBI-720609,EBI-357085
STXBP4 [Q08AL9]3EBI-720609,EBI-10318905
SUMF2 [Q8NBJ7]3EBI-720609,EBI-723091
SYCE3 [A1L190]3EBI-720609,EBI-10283466
SYNC [Q9H7C4]3EBI-720609,EBI-11285923
SYT16 - isoform 3 [Q17RD7-3]3EBI-720609,EBI-25861603
SYT3 [Q9BQG1]3EBI-720609,EBI-17284568
SYTL5 - isoform 2 [Q8TDW5-2]3EBI-720609,EBI-12243980
TADA2B - isoform 3 [Q86TJ2-3]3EBI-720609,EBI-18173581
TBC1D22A - isoform 2 [Q8WUA7-2]3EBI-720609,EBI-21575846
TBPL1 [P62380]3EBI-720609,EBI-716225
TCEAL4 [Q96EI5]3EBI-720609,EBI-2511291
TCEAL8 [Q8IYN2]3EBI-720609,EBI-2116184
TCF25 [Q9BQ70]3EBI-720609,EBI-745182
TCP10L [Q8TDR4]3EBI-720609,EBI-3923210
TDG [Q13569]3EBI-720609,EBI-348333
TEAD1 - isoform 2 [P28347-2]3EBI-720609,EBI-12151837
TENT5B [Q96A09]3EBI-720609,EBI-752030
TERF1 [P54274]2EBI-720609,EBI-710997
TEX19 [Q8NA77]3EBI-720609,EBI-13323487
TGM2 - isoform 2 [P21980-2]3EBI-720609,EBI-25842075
THAP4 [Q9BQ29]3EBI-720609,EBI-22013570
THUMPD2 [Q9BTF0]3EBI-720609,EBI-15105991
TIMM17B [O60830]3EBI-720609,EBI-2372529
TIMM8A [O60220]3EBI-720609,EBI-1049822
TLR10 [Q9BXR5]3EBI-720609,EBI-16825459
TMEM129 - isoform 2 [A0AVI4-2]3EBI-720609,EBI-25871541
TMEM61 [Q8N0U2]3EBI-720609,EBI-25830583
tmp_locus_54 [Q53NU3]3EBI-720609,EBI-10242677
TMTC1 - isoform 4 [Q8IUR5-4]3EBI-720609,EBI-9089156
TMUB2 - isoform 4 [Q71RG4-4]3EBI-720609,EBI-25831574
TNNI3 [P19429]3EBI-720609,EBI-704146
TRIM23 [P36406]3EBI-720609,EBI-740098
TRIM35 - isoform 2 [Q9UPQ4-2]3EBI-720609,EBI-17716262
TRMT61B [Q9BVS5]3EBI-720609,EBI-3197877
TRNT1 - isoform 3 [Q96Q11-3]3EBI-720609,EBI-25861172
TSC1 [Q86WV8]3EBI-720609,EBI-12806590
TSC22D4 [Q9Y3Q8]3EBI-720609,EBI-739485
TSSC4 [A0A024RCB9]3EBI-720609,EBI-25860845
TTC1 [Q99614]3EBI-720609,EBI-742074
TTC23 - isoform 3 [Q5W5X9-3]3EBI-720609,EBI-9090990
TUBB6 [Q9BUF5]3EBI-720609,EBI-356735
TUBGCP4 - isoform 2 [Q9UGJ1-2]3EBI-720609,EBI-10964469
TUSC5 [A5PKU2]3EBI-720609,EBI-11988865
TUT7 - isoform 5 [Q5VYS8-5]3EBI-720609,EBI-9088812
UBAC1 [Q9BSL1]3EBI-720609,EBI-749370
UBAC2 - isoform 4 [Q8NBM4-4]3EBI-720609,EBI-25840976
UBE2E3 [Q969T4]3EBI-720609,EBI-348496
UBE2J2 [Q8N2K1]3EBI-720609,EBI-2340110
UBE2K [P61086]3EBI-720609,EBI-473850
UBXN1 - isoform 2 [Q04323-2]3EBI-720609,EBI-11530712
USP2 - isoform 3 [O75604-3]3EBI-720609,EBI-10696113
USP25 [Q96B65]3EBI-720609,EBI-25876491
USP35 [A2RRA6]3EBI-720609,EBI-22013216
VDAC2 [P45880]3EBI-720609,EBI-354022
VPS37A [Q8NEZ2]3EBI-720609,EBI-2850578
VSX2 [P58304]3EBI-720609,EBI-6427899
WDR77 [Q9BQA1]3EBI-720609,EBI-1237307
WDR83 [Q9BRX9]3EBI-720609,EBI-7705033
WTAP - isoform 2 [Q15007-2]3EBI-720609,EBI-25840023
WWOX - isoform 5 [Q9NZC7-5]3EBI-720609,EBI-12040603
WWP2 [O00308]6EBI-720609,EBI-743923
XRCC6 [P12956]3EBI-720609,EBI-353208
YIF1A [O95070]3EBI-720609,EBI-2799703
YY1 [P25490]3EBI-720609,EBI-765538
ZBTB24 - isoform 2 [O43167-2]3EBI-720609,EBI-25842419
ZC2HC1C - isoform 2 [Q53FD0-2]3EBI-720609,EBI-14104088
ZCRB1 [Q8TBF4]3EBI-720609,EBI-11124401
ZDHHC17 [Q8IUH5]3EBI-720609,EBI-524753
ZDHHC20 - isoform 4 [Q5W0Z9-4]3EBI-720609,EBI-25840130
ZFP64 [Q9NTW7]3EBI-720609,EBI-711679
ZKSCAN8 [Q15776]3EBI-720609,EBI-2602314
ZNF124 [Q15973]3EBI-720609,EBI-2555767
ZNF138 [P52744]3EBI-720609,EBI-10746567
ZNF180 - isoform 4 [Q9UJW8-4]3EBI-720609,EBI-12055755
ZNF225 [Q9UK10]3EBI-720609,EBI-21856539
ZNF239 [Q16600]3EBI-720609,EBI-8787052
ZNF302 - isoform 2 [Q9NR11-2]3EBI-720609,EBI-12988373
ZNF366 [Q8N895]3EBI-720609,EBI-2813661
ZNF436 [Q9C0F3]3EBI-720609,EBI-8489702
ZNF440 [Q8IYI8]3EBI-720609,EBI-726439
ZNF444 - isoform 2 [Q8N0Y2-2]3EBI-720609,EBI-12010736
ZNF488 - isoform 2 [Q96MN9-2]3EBI-720609,EBI-25831733
ZNF497 [Q6ZNH5]3EBI-720609,EBI-10486136
ZNF524 [Q96C55]3EBI-720609,EBI-10283126
ZNF57 [Q68EA5]3EBI-720609,EBI-8490788
ZNF572 [Q7Z3I7]3EBI-720609,EBI-10172590
ZNF625 - isoform 2 [Q96I27-2]3EBI-720609,EBI-12038525
ZNF641 - isoform 2 [Q96N77-2]3EBI-720609,EBI-12939666
ZNF670 [Q9BS34]3EBI-720609,EBI-745276
ZNF696 [Q9H7X3]3EBI-720609,EBI-11090299
ZNF697 [Q5TEC3]3EBI-720609,EBI-25845217
ZNF774 [Q6NX45]3EBI-720609,EBI-10251462
ZNF791 [Q3KP31]3EBI-720609,EBI-2849119
ZNF829 - isoform 3 [Q3KNS6-3]3EBI-720609,EBI-18036029
ZSCAN26 [Q16670]3EBI-720609,EBI-3920053
ZSCAN9 [O15535]3EBI-720609,EBI-751531
ZXDC [Q2QGD7]3EBI-720609,EBI-1538838
A0A384ME253EBI-720609,EBI-10211777
Q7L8T73EBI-720609,EBI-25831943
Q7Z7833EBI-720609,EBI-9088990
Q86V283EBI-720609,EBI-10259496

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
113304, 46 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
O76024

Protein interaction database and analysis system

More...
IntActi
O76024, 479 interactors

Molecular INTeraction database

More...
MINTi
O76024

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000226760

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O76024, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O76024

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi190 – 193Poly-Lys4
Compositional biasi877 – 886Poly-Phe10

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QSC1, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016928

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_014606_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O76024

Identification of Orthologs from Complete Genome Data

More...
OMAi
VLQFARW

Database of Orthologous Groups

More...
OrthoDBi
962936at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O76024

TreeFam database of animal gene trees

More...
TreeFami
TF326849

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011990, TPR-like_helical_dom_sf
IPR026208, Wolframin
IPR026209, Wolframin_fam

The PANTHER Classification System

More...
PANTHERi
PTHR13098, PTHR13098, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02060, WOLFFAMILY
PR02061, WOLFRAMIN

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

O76024-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDSNTAPLGP SCPQPPPAPQ PQARSRLNAT ASLEQERSER PRAPGPQAGP
60 70 80 90 100
GPGVRDAAAP AEPQAQHTRS RERADGTGPT KGDMEIPFEE VLERAKAGDP
110 120 130 140 150
KAQTEVGKHY LQLAGDTDEE LNSCTAVDWL VLAAKQGRRE AVKLLRRCLA
160 170 180 190 200
DRRGITSENE REVRQLSSET DLERAVRKAA LVMYWKLNPK KKKQVAVAEL
210 220 230 240 250
LENVGQVNEH DGGAQPGPVP KSLQKQRRML ERLVSSESKN YIALDDFVEI
260 270 280 290 300
TKKYAKGVIP SSLFLQDDED DDELAGKSPE DLPLRLKVVK YPLHAIMEIK
310 320 330 340 350
EYLIDMASRA GMHWLSTIIP THHINALIFF FIVSNLTIDF FAFFIPLVIF
360 370 380 390 400
YLSFISMVIC TLKVFQDSKA WENFRTLTDL LLRFEPNLDV EQAEVNFGWN
410 420 430 440 450
HLEPYAHFLL SVFFVIFSFP IASKDCIPCS ELAVITGFFT VTSYLSLSTH
460 470 480 490 500
AEPYTRRALA TEVTAGLLSL LPSMPLNWPY LKVLGQTFIT VPVGHLVVLN
510 520 530 540 550
VSVPCLLYVY LLYLFFRMAQ LRNFKGTYCY LVPYLVCFMW CELSVVILLE
560 570 580 590 600
STGLGLLRAS IGYFLFLFAL PILVAGLALV GVLQFARWFT SLELTKIAVT
610 620 630 640 650
VAVCSVPLLL RWWTKASFSV VGMVKSLTRS SMVKLILVWL TAIVLFCWFY
660 670 680 690 700
VYRSEGMKVY NSTLTWQQYG ALCGPRAWKE TNMARTQILC SHLEGHRVTW
710 720 730 740 750
TGRFKYVRVT DIDNSAESAI NMLPFFIGDW MRCLYGEAYP ACSPGNTSTA
760 770 780 790 800
EEELCRLKLL AKHPCHIKKF DRYKFEITVG MPFSSGADGS RSREEDDVTK
810 820 830 840 850
DIVLRASSEF KSVLLSLRQG SLIEFSTILE GRLGSKWPVF ELKAISCLNC
860 870 880 890
MAQLSPTRRH VKIEHDWRST VHGAVKFAFD FFFFPFLSAA
Length:890
Mass (Da):100,292
Last modified:January 11, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4D7F27C547004EC6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A669KAX3A0A669KAX3_HUMAN
Wolframin
WFS1
902Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9G5H0Y9G5_HUMAN
Wolframin
WFS1
807Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KBF0A0A669KBF0_HUMAN
Wolframin
WFS1
427Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KB26A0A669KB26_HUMAN
Wolframin
WFS1
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03279116P → L. Corresponds to variant dbSNP:rs34653805Ensembl.1
Natural variantiVAR_01130558A → V in WFS1. 1 PublicationCorresponds to variant dbSNP:rs369671890EnsemblClinVar.1
Natural variantiVAR_032962107G → R1 Publication1
Natural variantiVAR_029499110Y → N in WFS1. 1 Publication1
Natural variantiVAR_011306126A → T in WFS1. 1 PublicationCorresponds to variant dbSNP:rs145639028EnsemblClinVar.1
Natural variantiVAR_014034133A → T in WFS1. 1 PublicationCorresponds to variant dbSNP:rs372249044Ensembl.1
Natural variantiVAR_009109169E → K in WFS1. Corresponds to variant dbSNP:rs148953711EnsemblClinVar.1
Natural variantiVAR_074210171D → N in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs758281375Ensembl.1
Natural variantiVAR_014995193K → Q. Corresponds to variant dbSNP:rs41264699EnsemblClinVar.1
Natural variantiVAR_009110292P → S in WFS1. Corresponds to variant dbSNP:rs746923441Ensembl.1
Natural variantiVAR_009111296I → S in WFS1. 1
Natural variantiVAR_029500326A → V1 PublicationCorresponds to variant dbSNP:rs369795224EnsemblClinVar.1
Natural variantiVAR_005840333V → I9 PublicationsCorresponds to variant dbSNP:rs1801212EnsemblClinVar.1
Natural variantiVAR_011307350Missing in WFS1. 1 Publication1
Natural variantiVAR_009112354Missing in WFS1. 1 Publication1
Natural variantiVAR_029501414Missing in WFS1. 1 Publication1
Natural variantiVAR_009113415Missing in WFS1; greatly reduces protein expression compared to wild-type. 2 Publications1
Natural variantiVAR_009114437G → R in WFS1. Corresponds to variant dbSNP:rs147974629Ensembl.1
Natural variantiVAR_011308443S → I in WFS1. 1 Publication1
Natural variantiVAR_005841456R → H4 PublicationsCorresponds to variant dbSNP:rs1801208EnsemblClinVar.1
Natural variantiVAR_029502457R → S in WFS1. 1 PublicationCorresponds to variant dbSNP:rs113446173EnsemblClinVar.1
Natural variantiVAR_014035461 – 463Missing in WFS1. 1 Publication3
Natural variantiVAR_070935462E → G in CTRCT41. 1 PublicationCorresponds to variant dbSNP:rs398123066EnsemblClinVar.1
Natural variantiVAR_029503468Missing in WFS1. 1 Publication1
Natural variantiVAR_005842504P → L in WFS1. 3 PublicationsCorresponds to variant dbSNP:rs28937892EnsemblClinVar.1
Natural variantiVAR_014036508 – 512Missing in WFS1. 1 Publication5
Natural variantiVAR_029504540Missing in WFS1. 1 Publication1
Natural variantiVAR_068343558R → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs199946797EnsemblClinVar.1
Natural variantiVAR_010602559A → T1 PublicationCorresponds to variant dbSNP:rs55814513EnsemblClinVar.1
Natural variantiVAR_009115567 – 568Missing in WFS1. 2
Natural variantiVAR_010603576G → S2 PublicationsCorresponds to variant dbSNP:rs1805069EnsemblClinVar.1
Natural variantiVAR_024554602A → V. Corresponds to variant dbSNP:rs2230720EnsemblClinVar.1
Natural variantiVAR_005843611R → H10 PublicationsCorresponds to variant dbSNP:rs734312EnsemblClinVar.1
Natural variantiVAR_029505629R → W in WFS1. 1 PublicationCorresponds to variant dbSNP:rs71530910Ensembl.1
Natural variantiVAR_032963634K → T in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs104893882EnsemblClinVar.1
Natural variantiVAR_014037653R → C in DFNA6; also found in a patient with type 2 diabetes; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs201064551EnsemblClinVar.1
Natural variantiVAR_014038669Y → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs1402999203Ensembl.1
Natural variantiVAR_074211669Y → H in DFNA6. 1 Publication1
Natural variantiVAR_011309674G → R1 PublicationCorresponds to variant dbSNP:rs200672755EnsemblClinVar.1
Natural variantiVAR_080401680Missing in DFNA6; unknown pathological significance. 1 Publication1
Natural variantiVAR_011310684A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs387906930EnsemblClinVar.1
Natural variantiVAR_074212685R → P in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs142668478EnsemblClinVar.1
Natural variantiVAR_009116690C → R in WFS1. Corresponds to variant dbSNP:rs754373473Ensembl.1
Natural variantiVAR_005844695G → V in WFS1. 1 PublicationCorresponds to variant dbSNP:rs28937891EnsemblClinVar.1
Natural variantiVAR_074213696H → Y in DFNA6. 1 Publication1
Natural variantiVAR_032964699T → M in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs28937894EnsemblClinVar.1
Natural variantiVAR_009117700W → C in WFS1. 1
Natural variantiVAR_074214703R → H in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs1323852277Ensembl.1
Natural variantiVAR_011311708R → C1 PublicationCorresponds to variant dbSNP:rs200099217EnsemblClinVar.1
Natural variantiVAR_032965716A → T in DFNA6. 2 PublicationsCorresponds to variant dbSNP:rs28937893EnsemblClinVar.1
Natural variantiVAR_010604720I → V2 PublicationsCorresponds to variant dbSNP:rs1805070EnsemblClinVar.1
Natural variantiVAR_005845724P → L in WFS1. 1 PublicationCorresponds to variant dbSNP:rs28937890Ensembl.1
Natural variantiVAR_009118736G → S in WFS1. 1 PublicationCorresponds to variant dbSNP:rs71532864Ensembl.1
Natural variantiVAR_011312737E → K3 PublicationsCorresponds to variant dbSNP:rs147834269EnsemblClinVar.1
Natural variantiVAR_032966779V → M in DFNA6; benign variant. 1 PublicationCorresponds to variant dbSNP:rs141328044EnsemblClinVar.1
Natural variantiVAR_011313780G → R in WFS1. 1 Publication1
Natural variantiVAR_068344780G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906931EnsemblClinVar.1
Natural variantiVAR_068345797D → Y in WFSL. 1 Publication1
Natural variantiVAR_029506802I → V1 PublicationCorresponds to variant dbSNP:rs746922325Ensembl.1
Natural variantiVAR_011314818R → C in WFS1. 1 PublicationCorresponds to variant dbSNP:rs35932623EnsemblClinVar.1
Natural variantiVAR_032967829L → P in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs104893883EnsemblClinVar.1
Natural variantiVAR_032968831G → D in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs28937895EnsemblClinVar.1
Natural variantiVAR_068346836K → N in WFSL. 1 PublicationCorresponds to variant dbSNP:rs876657675EnsemblClinVar.1
Natural variantiVAR_068347859R → Q in DFNA6. 1 PublicationCorresponds to variant dbSNP:rs121912618EnsemblClinVar.1
Natural variantiVAR_032969864E → K in WFSL. 1 PublicationCorresponds to variant dbSNP:rs74315205EnsemblClinVar.1
Natural variantiVAR_014996871V → M2 PublicationsCorresponds to variant dbSNP:rs71532874EnsemblClinVar.1
Natural variantiVAR_009119885P → L in WFS1; mild form. Corresponds to variant dbSNP:rs372855769Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y18064 mRNA Translation: CAA77022.1
AF084481 mRNA Translation: AAC64943.1
AK312897 mRNA Translation: BAG35744.1
AC116317 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82396.1
CH471131 Genomic DNA Translation: EAW82397.1
CH471131 Genomic DNA Translation: EAW82398.1
BC030130 mRNA Translation: AAH30130.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3386.1

NCBI Reference Sequences

More...
RefSeqi
NP_001139325.1, NM_001145853.1
NP_005996.2, NM_006005.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000226760; ENSP00000226760; ENSG00000109501
ENST00000503569; ENSP00000423337; ENSG00000109501

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7466

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7466

UCSC genome browser

More...
UCSCi
uc003gix.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18064 mRNA Translation: CAA77022.1
AF084481 mRNA Translation: AAC64943.1
AK312897 mRNA Translation: BAG35744.1
AC116317 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82396.1
CH471131 Genomic DNA Translation: EAW82397.1
CH471131 Genomic DNA Translation: EAW82398.1
BC030130 mRNA Translation: AAH30130.1
CCDSiCCDS3386.1
RefSeqiNP_001139325.1, NM_001145853.1
NP_005996.2, NM_006005.3

3D structure databases

SMRiO76024
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi113304, 46 interactors
ELMiO76024
IntActiO76024, 479 interactors
MINTiO76024
STRINGi9606.ENSP00000226760

Protein family/group databases

TCDBi8.A.57.1.1, the wofram syndrom or wolframin (wolframin) family

PTM databases

GlyConnecti1903, 4 N-Linked glycans (2 sites)
GlyGeniO76024, 2 sites
iPTMnetiO76024
PhosphoSitePlusiO76024
SwissPalmiO76024

Genetic variation databases

BioMutaiWFS1

Proteomic databases

EPDiO76024
jPOSTiO76024
MassIVEiO76024
MaxQBiO76024
PaxDbiO76024
PeptideAtlasiO76024
PRIDEiO76024
ProteomicsDBi50349

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22653, 166 antibodies

The DNASU plasmid repository

More...
DNASUi
7466

Genome annotation databases

EnsembliENST00000226760; ENSP00000226760; ENSG00000109501
ENST00000503569; ENSP00000423337; ENSG00000109501
GeneIDi7466
KEGGihsa:7466
UCSCiuc003gix.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7466
DisGeNETi7466

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WFS1
GeneReviewsiWFS1
HGNCiHGNC:12762, WFS1
HPAiENSG00000109501, Low tissue specificity
MalaCardsiWFS1
MIMi116400, phenotype
222300, phenotype
600965, phenotype
606201, gene
614296, phenotype
neXtProtiNX_O76024
OpenTargetsiENSG00000109501
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
98991, Early-onset nuclear cataract
3463, Wolfram syndrome
411590, Wolfram-like syndrome
PharmGKBiPA37365
VEuPathDBiHostDB:ENSG00000109501.13

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QSC1, Eukaryota
GeneTreeiENSGT00390000016928
HOGENOMiCLU_014606_0_0_1
InParanoidiO76024
OMAiVLQFARW
OrthoDBi962936at2759
PhylomeDBiO76024
TreeFamiTF326849

Enzyme and pathway databases

PathwayCommonsiO76024
ReactomeiR-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275, Post-translational protein phosphorylation
SIGNORiO76024

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
7466, 2 hits in 870 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
WFS1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
WFS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7466
PharosiO76024, Tbio

Protein Ontology

More...
PROi
PR:O76024
RNActiO76024, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109501, Expressed in nucleus accumbens and 235 other tissues
ExpressionAtlasiO76024, baseline and differential
GenevisibleiO76024, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR011990, TPR-like_helical_dom_sf
IPR026208, Wolframin
IPR026209, Wolframin_fam
PANTHERiPTHR13098, PTHR13098, 1 hit
PRINTSiPR02060, WOLFFAMILY
PR02061, WOLFRAMIN

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWFS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O76024
Secondary accession number(s): B2R797
, D3DVT1, Q8N6I3, Q9UNW6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 11, 2011
Last modified: February 10, 2021
This is version 200 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again