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Protein

Wolframin

Gene

WFS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • ATPase binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • calcium ion homeostasis Source: BHF-UCL
  • endoplasmic reticulum calcium ion homeostasis Source: BHF-UCL
  • ER-associated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
  • ER overload response Source: BHF-UCL
  • glucose homeostasis Source: BHF-UCL
  • IRE1-mediated unfolded protein response Source: Reactome
  • kidney development Source: BHF-UCL
  • negative regulation of ATF6-mediated unfolded protein response Source: ParkinsonsUK-UCL
  • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Source: Ensembl
  • negative regulation of neuron apoptotic process Source: BHF-UCL
  • negative regulation of programmed cell death Source: BHF-UCL
  • negative regulation of sequence-specific DNA binding transcription factor activity Source: ParkinsonsUK-UCL
  • negative regulation of transcription from RNA polymerase II promoter Source: ParkinsonsUK-UCL
  • negative regulation of type B pancreatic cell apoptotic process Source: BHF-UCL
  • neurological system process Source: BHF-UCL
  • olfactory behavior Source: Ensembl
  • pancreas development Source: Ensembl
  • positive regulation of adenylate cyclase activity Source: Ensembl
  • positive regulation of calcium ion transport Source: BHF-UCL
  • positive regulation of growth Source: BHF-UCL
  • positive regulation of protein metabolic process Source: BHF-UCL
  • positive regulation of protein ubiquitination Source: ParkinsonsUK-UCL
  • protein maturation by protein folding Source: BHF-UCL
  • protein stabilization Source: ParkinsonsUK-UCL
  • renal water homeostasis Source: BHF-UCL
  • response to endoplasmic reticulum stress Source: BHF-UCL
  • sensory perception of sound Source: BHF-UCL
  • visual perception Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109501-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Wolframin
Gene namesi
Name:WFS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:12762. WFS1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Topological domaini653 – 869LumenalSequence analysisAdd BLAST217
Transmembranei870 – 890HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • dendrite Source: BHF-UCL
  • endoplasmic reticulum Source: BHF-UCL
  • endoplasmic reticulum membrane Source: ParkinsonsUK-UCL
  • integral component of endoplasmic reticulum membrane Source: BHF-UCL
  • proteasome complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Wolfram syndrome 1 (WFS1)8 Publications
The disease is caused by mutations 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.
See also OMIM:222300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01130558A → V in WFS1. 1 PublicationCorresponds to variant rs369671890dbSNPEnsembl.1
Natural variantiVAR_029499110Y → N in WFS1. 1 Publication1
Natural variantiVAR_011306126A → T in WFS1. 1 PublicationCorresponds to variant rs145639028dbSNPEnsembl.1
Natural variantiVAR_014034133A → T in WFS1. 1 PublicationCorresponds to variant rs372249044dbSNPEnsembl.1
Natural variantiVAR_009109169E → K in WFS1. Corresponds to variant rs148953711dbSNPEnsembl.1
Natural variantiVAR_009110292P → S in WFS1. Corresponds to variant rs746923441dbSNPEnsembl.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 rs147974629dbSNPEnsembl.1
Natural variantiVAR_011308443S → I in WFS1. 1 Publication1
Natural variantiVAR_029502457R → S in WFS1. 1 PublicationCorresponds to variant rs113446173dbSNPEnsembl.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 rs28937892dbSNPEnsembl.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 rs199946797dbSNPEnsembl.1
Natural variantiVAR_009115567 – 568Missing in WFS1. 2
Natural variantiVAR_029505629R → W in WFS1. 1 PublicationCorresponds to variant rs71530910dbSNPEnsembl.1
Natural variantiVAR_014038669Y → C in WFS1. 1 Publication1
Natural variantiVAR_009116690C → R in WFS1. Corresponds to variant rs754373473dbSNPEnsembl.1
Natural variantiVAR_005844695G → V in WFS1. 1 PublicationCorresponds to variant rs28937891dbSNPEnsembl.1
Natural variantiVAR_009117700W → C in WFS1. 1
Natural variantiVAR_005845724P → L in WFS1. 1 PublicationCorresponds to variant rs28937890dbSNPEnsembl.1
Natural variantiVAR_009118736G → S in WFS1. 1 PublicationCorresponds to variant rs71532864dbSNPEnsembl.1
Natural variantiVAR_011313780G → R in WFS1. 1 Publication1
Natural variantiVAR_011314818R → C in WFS1. 1 PublicationCorresponds to variant rs35932623dbSNPEnsembl.1
Natural variantiVAR_009119885P → L in WFS1; mild form. Corresponds to variant rs372855769dbSNPEnsembl.1
Deafness, autosomal dominant, 6 (DFNA6)8 Publications
The disease is caused by mutations 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.
See also OMIM:600965
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074210171D → N in DFNA6. 1 PublicationCorresponds to variant rs758281375dbSNPEnsembl.1
Natural variantiVAR_032963634K → T in DFNA6. 1 PublicationCorresponds to variant rs104893882dbSNPEnsembl.1
Natural variantiVAR_074211669Y → H in DFNA6. 1 Publication1
Natural variantiVAR_074212685R → P in DFNA6. 1 PublicationCorresponds to variant rs142668478dbSNPEnsembl.1
Natural variantiVAR_074213696H → Y in DFNA6. 1 Publication1
Natural variantiVAR_032964699T → M in DFNA6. 1 PublicationCorresponds to variant rs28937894dbSNPEnsembl.1
Natural variantiVAR_074214703R → H in DFNA6. 1 Publication1
Natural variantiVAR_032965716A → T in DFNA6. 2 PublicationsCorresponds to variant rs28937893dbSNPEnsembl.1
Natural variantiVAR_032966779V → M in DFNA6. 1 PublicationCorresponds to variant rs141328044dbSNPEnsembl.1
Natural variantiVAR_032967829L → P in DFNA6. 1 PublicationCorresponds to variant rs104893883dbSNPEnsembl.1
Natural variantiVAR_032968831G → D in DFNA6. 1 PublicationCorresponds to variant rs28937895dbSNPEnsembl.1
Natural variantiVAR_068347859R → Q in DFNA6. 1 PublicationCorresponds to variant rs121912618dbSNPEnsembl.1
Wolfram-like syndrome autosomal dominant (WFSL)3 Publications
The disease is caused by mutations 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.
See also OMIM:614296
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011310684A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 PublicationsCorresponds to variant rs387906930dbSNPEnsembl.1
Natural variantiVAR_068344780G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 PublicationCorresponds to variant rs387906931dbSNPEnsembl.1
Natural variantiVAR_068345797D → Y in WFSL. 1 Publication1
Natural variantiVAR_068346836K → N in WFSL. 1 Publication1
Natural variantiVAR_032969864E → K in WFSL. 1 PublicationCorresponds to variant rs74315205dbSNPEnsembl.1
Cataract 41 (CTRCT41)1 Publication
The disease is caused by mutations 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.
See also OMIM:116400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070935462E → G in CTRCT41. 1 PublicationCorresponds to variant rs398123066dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi7466.
MalaCardsiWFS1.
MIMi116400. phenotype.
222300. phenotype.
600965. phenotype.
614296. phenotype.
OpenTargetsiENSG00000109501.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
1215. Autosomal dominant optic atrophy plus syndrome.
98991. Nuclear cataract.
3463. Wolfram syndrome.
PharmGKBiPA37365.

Polymorphism and mutation databases

BioMutaiWFS1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000659631 – 890WolframinAdd BLAST890

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei30Phosphothreonine; by FAM20C1 Publication1
Modified residuei32Phosphoserine; by FAM20CCombined sources1 Publication1
Modified residuei157PhosphoserineBy similarity1
Glycosylationi661N-linked (GlcNAc...)Curated1
Glycosylationi746N-linked (GlcNAc...)Curated1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO76024.
MaxQBiO76024.
PaxDbiO76024.
PeptideAtlasiO76024.
PRIDEiO76024.

PTM databases

iPTMnetiO76024.
PhosphoSitePlusiO76024.
SwissPalmiO76024.

Expressioni

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

BgeeiENSG00000109501.
CleanExiHS_WFS1.
ExpressionAtlasiO76024. baseline and differential.
GenevisibleiO76024. HS.

Organism-specific databases

HPAiHPA029128.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542742EBI-720609,EBI-710997

GO - Molecular functioni

  • ATPase binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi113304. 13 interactors.
IntActiO76024. 7 interactors.
MINTiMINT-1418252.
STRINGi9606.ENSP00000226760.

Structurei

3D structure databases

ProteinModelPortaliO76024.
SMRiO76024.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi190 – 193Poly-Lys4
Compositional biasi877 – 886Poly-Phe10

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IDYG. Eukaryota.
ENOG4111MAM. LUCA.
GeneTreeiENSGT00390000016928.
HOGENOMiHOG000132944.
HOVERGENiHBG014957.
InParanoidiO76024.
KOiK14020.
OMAiVNFGWNH.
OrthoDBiEOG091G01MI.
PhylomeDBiO76024.
TreeFamiTF326849.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR011990. TPR-like_helical_dom.
IPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view]
PANTHERiPTHR13098. PTHR13098. 1 hit.
PRINTSiPR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.

Sequencei

Sequence statusi: Complete.

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
Checksum:i4D7F27C547004EC6
GO

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 rs34653805dbSNPEnsembl.1
Natural variantiVAR_01130558A → V in WFS1. 1 PublicationCorresponds to variant rs369671890dbSNPEnsembl.1
Natural variantiVAR_032962107G → R.1 Publication1
Natural variantiVAR_029499110Y → N in WFS1. 1 Publication1
Natural variantiVAR_011306126A → T in WFS1. 1 PublicationCorresponds to variant rs145639028dbSNPEnsembl.1
Natural variantiVAR_014034133A → T in WFS1. 1 PublicationCorresponds to variant rs372249044dbSNPEnsembl.1
Natural variantiVAR_009109169E → K in WFS1. Corresponds to variant rs148953711dbSNPEnsembl.1
Natural variantiVAR_074210171D → N in DFNA6. 1 PublicationCorresponds to variant rs758281375dbSNPEnsembl.1
Natural variantiVAR_014995193K → Q.Corresponds to variant rs41264699dbSNPEnsembl.1
Natural variantiVAR_009110292P → S in WFS1. Corresponds to variant rs746923441dbSNPEnsembl.1
Natural variantiVAR_009111296I → S in WFS1. 1
Natural variantiVAR_029500326A → V.1 PublicationCorresponds to variant rs369795224dbSNPEnsembl.1
Natural variantiVAR_005840333V → I.9 PublicationsCorresponds to variant rs1801212dbSNPEnsembl.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 rs147974629dbSNPEnsembl.1
Natural variantiVAR_011308443S → I in WFS1. 1 Publication1
Natural variantiVAR_005841456R → H.4 PublicationsCorresponds to variant rs1801208dbSNPEnsembl.1
Natural variantiVAR_029502457R → S in WFS1. 1 PublicationCorresponds to variant rs113446173dbSNPEnsembl.1
Natural variantiVAR_014035461 – 463Missing in WFS1. 1 Publication3
Natural variantiVAR_070935462E → G in CTRCT41. 1 PublicationCorresponds to variant rs398123066dbSNPEnsembl.1
Natural variantiVAR_029503468Missing in WFS1. 1 Publication1
Natural variantiVAR_005842504P → L in WFS1. 3 PublicationsCorresponds to variant rs28937892dbSNPEnsembl.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 rs199946797dbSNPEnsembl.1
Natural variantiVAR_010602559A → T.1 PublicationCorresponds to variant rs55814513dbSNPEnsembl.1
Natural variantiVAR_009115567 – 568Missing in WFS1. 2
Natural variantiVAR_010603576G → S.2 PublicationsCorresponds to variant rs1805069dbSNPEnsembl.1
Natural variantiVAR_024554602A → V.Corresponds to variant rs2230720dbSNPEnsembl.1
Natural variantiVAR_005843611R → H.10 PublicationsCorresponds to variant rs734312dbSNPEnsembl.1
Natural variantiVAR_029505629R → W in WFS1. 1 PublicationCorresponds to variant rs71530910dbSNPEnsembl.1
Natural variantiVAR_032963634K → T in DFNA6. 1 PublicationCorresponds to variant rs104893882dbSNPEnsembl.1
Natural variantiVAR_014037653R → C in a patient with type 2 diabetes. 1 PublicationCorresponds to variant rs201064551dbSNPEnsembl.1
Natural variantiVAR_014038669Y → C in WFS1. 1 Publication1
Natural variantiVAR_074211669Y → H in DFNA6. 1 Publication1
Natural variantiVAR_011309674G → R.1 PublicationCorresponds to variant rs200672755dbSNPEnsembl.1
Natural variantiVAR_011310684A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 PublicationsCorresponds to variant rs387906930dbSNPEnsembl.1
Natural variantiVAR_074212685R → P in DFNA6. 1 PublicationCorresponds to variant rs142668478dbSNPEnsembl.1
Natural variantiVAR_009116690C → R in WFS1. Corresponds to variant rs754373473dbSNPEnsembl.1
Natural variantiVAR_005844695G → V in WFS1. 1 PublicationCorresponds to variant rs28937891dbSNPEnsembl.1
Natural variantiVAR_074213696H → Y in DFNA6. 1 Publication1
Natural variantiVAR_032964699T → M in DFNA6. 1 PublicationCorresponds to variant rs28937894dbSNPEnsembl.1
Natural variantiVAR_009117700W → C in WFS1. 1
Natural variantiVAR_074214703R → H in DFNA6. 1 Publication1
Natural variantiVAR_011311708R → C.1 PublicationCorresponds to variant rs200099217dbSNPEnsembl.1
Natural variantiVAR_032965716A → T in DFNA6. 2 PublicationsCorresponds to variant rs28937893dbSNPEnsembl.1
Natural variantiVAR_010604720I → V.2 PublicationsCorresponds to variant rs1805070dbSNPEnsembl.1
Natural variantiVAR_005845724P → L in WFS1. 1 PublicationCorresponds to variant rs28937890dbSNPEnsembl.1
Natural variantiVAR_009118736G → S in WFS1. 1 PublicationCorresponds to variant rs71532864dbSNPEnsembl.1
Natural variantiVAR_011312737E → K.2 PublicationsCorresponds to variant rs147834269dbSNPEnsembl.1
Natural variantiVAR_032966779V → M in DFNA6. 1 PublicationCorresponds to variant rs141328044dbSNPEnsembl.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 rs387906931dbSNPEnsembl.1
Natural variantiVAR_068345797D → Y in WFSL. 1 Publication1
Natural variantiVAR_029506802I → V.1 PublicationCorresponds to variant rs746922325dbSNPEnsembl.1
Natural variantiVAR_011314818R → C in WFS1. 1 PublicationCorresponds to variant rs35932623dbSNPEnsembl.1
Natural variantiVAR_032967829L → P in DFNA6. 1 PublicationCorresponds to variant rs104893883dbSNPEnsembl.1
Natural variantiVAR_032968831G → D in DFNA6. 1 PublicationCorresponds to variant rs28937895dbSNPEnsembl.1
Natural variantiVAR_068346836K → N in WFSL. 1 Publication1
Natural variantiVAR_068347859R → Q in DFNA6. 1 PublicationCorresponds to variant rs121912618dbSNPEnsembl.1
Natural variantiVAR_032969864E → K in WFSL. 1 PublicationCorresponds to variant rs74315205dbSNPEnsembl.1
Natural variantiVAR_014996871V → M.2 PublicationsCorresponds to variant rs71532874dbSNPEnsembl.1
Natural variantiVAR_009119885P → L in WFS1; mild form. Corresponds to variant rs372855769dbSNPEnsembl.1

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.
UniGeneiHs.518602.
Hs.727283.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.518602.
Hs.727283.

3D structure databases

ProteinModelPortaliO76024.
SMRiO76024.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113304. 13 interactors.
IntActiO76024. 7 interactors.
MINTiMINT-1418252.
STRINGi9606.ENSP00000226760.

Protein family/group databases

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

PTM databases

iPTMnetiO76024.
PhosphoSitePlusiO76024.
SwissPalmiO76024.

Polymorphism and mutation databases

BioMutaiWFS1.

Proteomic databases

EPDiO76024.
MaxQBiO76024.
PaxDbiO76024.
PeptideAtlasiO76024.
PRIDEiO76024.

Protocols and materials databases

DNASUi7466.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7466.
DisGeNETi7466.
GeneCardsiWFS1.
GeneReviewsiWFS1.
H-InvDBHIX0004060.
HGNCiHGNC:12762. WFS1.
HPAiHPA029128.
MalaCardsiWFS1.
MIMi116400. phenotype.
222300. phenotype.
600965. phenotype.
606201. gene.
614296. phenotype.
neXtProtiNX_O76024.
OpenTargetsiENSG00000109501.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
1215. Autosomal dominant optic atrophy plus syndrome.
98991. Nuclear cataract.
3463. Wolfram syndrome.
PharmGKBiPA37365.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDYG. Eukaryota.
ENOG4111MAM. LUCA.
GeneTreeiENSGT00390000016928.
HOGENOMiHOG000132944.
HOVERGENiHBG014957.
InParanoidiO76024.
KOiK14020.
OMAiVNFGWNH.
OrthoDBiEOG091G01MI.
PhylomeDBiO76024.
TreeFamiTF326849.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109501-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.

Miscellaneous databases

GeneWikiiWFS1.
GenomeRNAii7466.
PROiO76024.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109501.
CleanExiHS_WFS1.
ExpressionAtlasiO76024. baseline and differential.
GenevisibleiO76024. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR011990. TPR-like_helical_dom.
IPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view]
PANTHERiPTHR13098. PTHR13098. 1 hit.
PRINTSiPR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.
ProtoNetiSearch...

Entry informationi

Entry nameiWFS1_HUMAN
AccessioniPrimary (citable) accession number: O76024
Secondary accession number(s): B2R797
, D3DVT1, Q8N6I3, Q9UNW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 165 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.