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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
  • 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

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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei314 – 33421HelicalSequence analysisAdd
BLAST
Transmembranei340 – 36021HelicalSequence analysisAdd
BLAST
Transmembranei402 – 42221HelicalSequence analysisAdd
BLAST
Transmembranei427 – 44721HelicalSequence analysisAdd
BLAST
Transmembranei465 – 48521HelicalSequence analysisAdd
BLAST
Transmembranei496 – 51621HelicalSequence analysisAdd
BLAST
Transmembranei529 – 54921HelicalSequence analysisAdd
BLAST
Transmembranei563 – 58321HelicalSequence analysisAdd
BLAST
Transmembranei589 – 60921HelicalSequence analysisAdd
BLAST
Transmembranei632 – 65221HelicalSequence analysisAdd
BLAST
Topological domaini653 – 869217LumenalSequence analysisAdd
BLAST
Transmembranei870 – 89021HelicalSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581A → V in WFS1. 1 Publication
Corresponds to variant rs369671890 [ dbSNP | Ensembl ].
VAR_011305
Natural varianti110 – 1101Y → N in WFS1. 1 Publication
VAR_029499
Natural varianti126 – 1261A → T in WFS1. 1 Publication
Corresponds to variant rs145639028 [ dbSNP | Ensembl ].
VAR_011306
Natural varianti133 – 1331A → T in WFS1. 1 Publication
Corresponds to variant rs372249044 [ dbSNP | Ensembl ].
VAR_014034
Natural varianti169 – 1691E → K in WFS1.
Corresponds to variant rs148953711 [ dbSNP | Ensembl ].
VAR_009109
Natural varianti292 – 2921P → S in WFS1.
Corresponds to variant rs746923441 [ dbSNP | Ensembl ].
VAR_009110
Natural varianti296 – 2961I → S in WFS1.
VAR_009111
Natural varianti350 – 3501Missing in WFS1. 1 Publication
VAR_011307
Natural varianti354 – 3541Missing in WFS1. 1 Publication
VAR_009112
Natural varianti414 – 4141Missing in WFS1. 1 Publication
VAR_029501
Natural varianti415 – 4151Missing in WFS1; greatly reduces protein expression compared to wild-type. 2 Publications
VAR_009113
Natural varianti437 – 4371G → R in WFS1.
Corresponds to variant rs147974629 [ dbSNP | Ensembl ].
VAR_009114
Natural varianti443 – 4431S → I in WFS1. 1 Publication
VAR_011308
Natural varianti457 – 4571R → S in WFS1. 1 Publication
Corresponds to variant rs113446173 [ dbSNP | Ensembl ].
VAR_029502
Natural varianti461 – 4633Missing in WFS1. 1 Publication
VAR_014035
Natural varianti468 – 4681Missing in WFS1. 1 Publication
VAR_029503
Natural varianti504 – 5041P → L in WFS1. 3 Publications
Corresponds to variant rs28937892 [ dbSNP | Ensembl ].
VAR_005842
Natural varianti508 – 5125Missing in WFS1. 1 Publication
VAR_014036
Natural varianti540 – 5401Missing in WFS1. 1 Publication
VAR_029504
Natural varianti558 – 5581R → C in WFS1. 1 Publication
Corresponds to variant rs199946797 [ dbSNP | Ensembl ].
VAR_068343
Natural varianti567 – 5682Missing in WFS1.
VAR_009115
Natural varianti629 – 6291R → W in WFS1. 1 Publication
Corresponds to variant rs71530910 [ dbSNP | Ensembl ].
VAR_029505
Natural varianti669 – 6691Y → C in WFS1. 1 Publication
VAR_014038
Natural varianti690 – 6901C → R in WFS1.
Corresponds to variant rs754373473 [ dbSNP | Ensembl ].
VAR_009116
Natural varianti695 – 6951G → V in WFS1. 1 Publication
Corresponds to variant rs28937891 [ dbSNP | Ensembl ].
VAR_005844
Natural varianti700 – 7001W → C in WFS1.
VAR_009117
Natural varianti724 – 7241P → L in WFS1. 1 Publication
Corresponds to variant rs28937890 [ dbSNP | Ensembl ].
VAR_005845
Natural varianti736 – 7361G → S in WFS1. 1 Publication
Corresponds to variant rs71532864 [ dbSNP | Ensembl ].
VAR_009118
Natural varianti780 – 7801G → R in WFS1. 1 Publication
VAR_011313
Natural varianti818 – 8181R → C in WFS1. 1 Publication
Corresponds to variant rs35932623 [ dbSNP | Ensembl ].
VAR_011314
Natural varianti885 – 8851P → L in WFS1; mild form.
Corresponds to variant rs372855769 [ dbSNP | Ensembl ].
VAR_009119
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1711D → N in DFNA6. 1 Publication
Corresponds to variant rs758281375 [ dbSNP | Ensembl ].
VAR_074210
Natural varianti634 – 6341K → T in DFNA6. 1 Publication
Corresponds to variant rs104893882 [ dbSNP | Ensembl ].
VAR_032963
Natural varianti669 – 6691Y → H in DFNA6. 1 Publication
VAR_074211
Natural varianti685 – 6851R → P in DFNA6. 1 Publication
Corresponds to variant rs142668478 [ dbSNP | Ensembl ].
VAR_074212
Natural varianti696 – 6961H → Y in DFNA6. 1 Publication
VAR_074213
Natural varianti699 – 6991T → M in DFNA6. 1 Publication
Corresponds to variant rs28937894 [ dbSNP | Ensembl ].
VAR_032964
Natural varianti703 – 7031R → H in DFNA6. 1 Publication
VAR_074214
Natural varianti716 – 7161A → T in DFNA6. 2 Publications
Corresponds to variant rs28937893 [ dbSNP | Ensembl ].
VAR_032965
Natural varianti779 – 7791V → M in DFNA6. 1 Publication
Corresponds to variant rs141328044 [ dbSNP | Ensembl ].
VAR_032966
Natural varianti829 – 8291L → P in DFNA6. 1 Publication
Corresponds to variant rs104893883 [ dbSNP | Ensembl ].
VAR_032967
Natural varianti831 – 8311G → D in DFNA6. 1 Publication
Corresponds to variant rs28937895 [ dbSNP | Ensembl ].
VAR_032968
Natural varianti859 – 8591R → Q in DFNA6. 1 Publication
Corresponds to variant rs121912618 [ dbSNP | Ensembl ].
VAR_068347
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti684 – 6841A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 Publications
Corresponds to variant rs387906930 [ dbSNP | Ensembl ].
VAR_011310
Natural varianti780 – 7801G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 Publication
Corresponds to variant rs387906931 [ dbSNP | Ensembl ].
VAR_068344
Natural varianti797 – 7971D → Y in WFSL. 1 Publication
VAR_068345
Natural varianti836 – 8361K → N in WFSL. 1 Publication
VAR_068346
Natural varianti864 – 8641E → K in WFSL. 1 Publication
Corresponds to variant rs74315205 [ dbSNP | Ensembl ].
VAR_032969
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti462 – 4621E → G in CTRCT41. 1 Publication
Corresponds to variant rs398123066 [ dbSNP | Ensembl ].
VAR_070935

Keywords - Diseasei

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

Organism-specific databases

MalaCardsiWFS1.
MIMi116400. phenotype.
222300. phenotype.
600965. phenotype.
614296. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 890890WolframinPRO_0000065963Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources
Modified residuei30 – 301Phosphothreonine; by FAM20C1 Publication
Modified residuei32 – 321Phosphoserine; by FAM20CCombined sources1 Publication
Modified residuei157 – 1571PhosphoserineBy similarity
Glycosylationi661 – 6611N-linked (GlcNAc...)Curated
Glycosylationi746 – 7461N-linked (GlcNAc...)Curated

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO76024.
MaxQBiO76024.
PaxDbiO76024.
PeptideAtlasiO76024.
PRIDEiO76024.

PTM databases

iPTMnetiO76024.
PhosphoSiteiO76024.
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 interactions.
IntActiO76024. 6 interactions.
MINTiMINT-1418252.
STRINGi9606.ENSP00000226760.

Structurei

3D structure databases

ProteinModelPortaliO76024.
SMRiO76024. Positions 82-163.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi190 – 1934Poly-Lys
Compositional biasi877 – 88610Poly-Phe

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR026208. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161P → L.
Corresponds to variant rs34653805 [ dbSNP | Ensembl ].
VAR_032791
Natural varianti58 – 581A → V in WFS1. 1 Publication
Corresponds to variant rs369671890 [ dbSNP | Ensembl ].
VAR_011305
Natural varianti107 – 1071G → R.1 Publication
VAR_032962
Natural varianti110 – 1101Y → N in WFS1. 1 Publication
VAR_029499
Natural varianti126 – 1261A → T in WFS1. 1 Publication
Corresponds to variant rs145639028 [ dbSNP | Ensembl ].
VAR_011306
Natural varianti133 – 1331A → T in WFS1. 1 Publication
Corresponds to variant rs372249044 [ dbSNP | Ensembl ].
VAR_014034
Natural varianti169 – 1691E → K in WFS1.
Corresponds to variant rs148953711 [ dbSNP | Ensembl ].
VAR_009109
Natural varianti171 – 1711D → N in DFNA6. 1 Publication
Corresponds to variant rs758281375 [ dbSNP | Ensembl ].
VAR_074210
Natural varianti193 – 1931K → Q.
Corresponds to variant rs41264699 [ dbSNP | Ensembl ].
VAR_014995
Natural varianti292 – 2921P → S in WFS1.
Corresponds to variant rs746923441 [ dbSNP | Ensembl ].
VAR_009110
Natural varianti296 – 2961I → S in WFS1.
VAR_009111
Natural varianti326 – 3261A → V.1 Publication
Corresponds to variant rs369795224 [ dbSNP | Ensembl ].
VAR_029500
Natural varianti333 – 3331V → I.9 Publications
Corresponds to variant rs1801212 [ dbSNP | Ensembl ].
VAR_005840
Natural varianti350 – 3501Missing in WFS1. 1 Publication
VAR_011307
Natural varianti354 – 3541Missing in WFS1. 1 Publication
VAR_009112
Natural varianti414 – 4141Missing in WFS1. 1 Publication
VAR_029501
Natural varianti415 – 4151Missing in WFS1; greatly reduces protein expression compared to wild-type. 2 Publications
VAR_009113
Natural varianti437 – 4371G → R in WFS1.
Corresponds to variant rs147974629 [ dbSNP | Ensembl ].
VAR_009114
Natural varianti443 – 4431S → I in WFS1. 1 Publication
VAR_011308
Natural varianti456 – 4561R → H.4 Publications
Corresponds to variant rs1801208 [ dbSNP | Ensembl ].
VAR_005841
Natural varianti457 – 4571R → S in WFS1. 1 Publication
Corresponds to variant rs113446173 [ dbSNP | Ensembl ].
VAR_029502
Natural varianti461 – 4633Missing in WFS1. 1 Publication
VAR_014035
Natural varianti462 – 4621E → G in CTRCT41. 1 Publication
Corresponds to variant rs398123066 [ dbSNP | Ensembl ].
VAR_070935
Natural varianti468 – 4681Missing in WFS1. 1 Publication
VAR_029503
Natural varianti504 – 5041P → L in WFS1. 3 Publications
Corresponds to variant rs28937892 [ dbSNP | Ensembl ].
VAR_005842
Natural varianti508 – 5125Missing in WFS1. 1 Publication
VAR_014036
Natural varianti540 – 5401Missing in WFS1. 1 Publication
VAR_029504
Natural varianti558 – 5581R → C in WFS1. 1 Publication
Corresponds to variant rs199946797 [ dbSNP | Ensembl ].
VAR_068343
Natural varianti559 – 5591A → T.1 Publication
Corresponds to variant rs55814513 [ dbSNP | Ensembl ].
VAR_010602
Natural varianti567 – 5682Missing in WFS1.
VAR_009115
Natural varianti576 – 5761G → S.2 Publications
Corresponds to variant rs1805069 [ dbSNP | Ensembl ].
VAR_010603
Natural varianti602 – 6021A → V.
Corresponds to variant rs2230720 [ dbSNP | Ensembl ].
VAR_024554
Natural varianti611 – 6111R → H.10 Publications
Corresponds to variant rs734312 [ dbSNP | Ensembl ].
VAR_005843
Natural varianti629 – 6291R → W in WFS1. 1 Publication
Corresponds to variant rs71530910 [ dbSNP | Ensembl ].
VAR_029505
Natural varianti634 – 6341K → T in DFNA6. 1 Publication
Corresponds to variant rs104893882 [ dbSNP | Ensembl ].
VAR_032963
Natural varianti653 – 6531R → C in a patient with type 2 diabetes. 1 Publication
Corresponds to variant rs201064551 [ dbSNP | Ensembl ].
VAR_014037
Natural varianti669 – 6691Y → C in WFS1. 1 Publication
VAR_014038
Natural varianti669 – 6691Y → H in DFNA6. 1 Publication
VAR_074211
Natural varianti674 – 6741G → R.1 Publication
Corresponds to variant rs200672755 [ dbSNP | Ensembl ].
VAR_011309
Natural varianti684 – 6841A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 Publications
Corresponds to variant rs387906930 [ dbSNP | Ensembl ].
VAR_011310
Natural varianti685 – 6851R → P in DFNA6. 1 Publication
Corresponds to variant rs142668478 [ dbSNP | Ensembl ].
VAR_074212
Natural varianti690 – 6901C → R in WFS1.
Corresponds to variant rs754373473 [ dbSNP | Ensembl ].
VAR_009116
Natural varianti695 – 6951G → V in WFS1. 1 Publication
Corresponds to variant rs28937891 [ dbSNP | Ensembl ].
VAR_005844
Natural varianti696 – 6961H → Y in DFNA6. 1 Publication
VAR_074213
Natural varianti699 – 6991T → M in DFNA6. 1 Publication
Corresponds to variant rs28937894 [ dbSNP | Ensembl ].
VAR_032964
Natural varianti700 – 7001W → C in WFS1.
VAR_009117
Natural varianti703 – 7031R → H in DFNA6. 1 Publication
VAR_074214
Natural varianti708 – 7081R → C.1 Publication
Corresponds to variant rs200099217 [ dbSNP | Ensembl ].
VAR_011311
Natural varianti716 – 7161A → T in DFNA6. 2 Publications
Corresponds to variant rs28937893 [ dbSNP | Ensembl ].
VAR_032965
Natural varianti720 – 7201I → V.2 Publications
Corresponds to variant rs1805070 [ dbSNP | Ensembl ].
VAR_010604
Natural varianti724 – 7241P → L in WFS1. 1 Publication
Corresponds to variant rs28937890 [ dbSNP | Ensembl ].
VAR_005845
Natural varianti736 – 7361G → S in WFS1. 1 Publication
Corresponds to variant rs71532864 [ dbSNP | Ensembl ].
VAR_009118
Natural varianti737 – 7371E → K.2 Publications
Corresponds to variant rs147834269 [ dbSNP | Ensembl ].
VAR_011312
Natural varianti779 – 7791V → M in DFNA6. 1 Publication
Corresponds to variant rs141328044 [ dbSNP | Ensembl ].
VAR_032966
Natural varianti780 – 7801G → R in WFS1. 1 Publication
VAR_011313
Natural varianti780 – 7801G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 Publication
Corresponds to variant rs387906931 [ dbSNP | Ensembl ].
VAR_068344
Natural varianti797 – 7971D → Y in WFSL. 1 Publication
VAR_068345
Natural varianti802 – 8021I → V.1 Publication
Corresponds to variant rs746922325 [ dbSNP | Ensembl ].
VAR_029506
Natural varianti818 – 8181R → C in WFS1. 1 Publication
Corresponds to variant rs35932623 [ dbSNP | Ensembl ].
VAR_011314
Natural varianti829 – 8291L → P in DFNA6. 1 Publication
Corresponds to variant rs104893883 [ dbSNP | Ensembl ].
VAR_032967
Natural varianti831 – 8311G → D in DFNA6. 1 Publication
Corresponds to variant rs28937895 [ dbSNP | Ensembl ].
VAR_032968
Natural varianti836 – 8361K → N in WFSL. 1 Publication
VAR_068346
Natural varianti859 – 8591R → Q in DFNA6. 1 Publication
Corresponds to variant rs121912618 [ dbSNP | Ensembl ].
VAR_068347
Natural varianti864 – 8641E → K in WFSL. 1 Publication
Corresponds to variant rs74315205 [ dbSNP | Ensembl ].
VAR_032969
Natural varianti871 – 8711V → M.2 Publications
Corresponds to variant rs71532874 [ dbSNP | Ensembl ].
VAR_014996
Natural varianti885 – 8851P → L in WFS1; mild form.
Corresponds to variant rs372855769 [ dbSNP | Ensembl ].
VAR_009119

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

Web resourcesi

WFS1 gene mutation and polymorphism database

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. Positions 82-163.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113304. 13 interactions.
IntActiO76024. 6 interactions.
MINTiMINT-1418252.
STRINGi9606.ENSP00000226760.

Protein family/group databases

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

PTM databases

iPTMnetiO76024.
PhosphoSiteiO76024.
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.
GeneCardsiWFS1.
GeneReviewsiWFS1.
H-InvDBHIX0004060.
HGNCiHGNC:12762. WFS1.
HPAiHPA029128.
MalaCardsiWFS1.
MIMi116400. phenotype.
222300. phenotype.
600965. phenotype.
606201. gene.
614296. phenotype.
neXtProtiNX_O76024.
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

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

InterProiIPR026208. 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: September 7, 2016
This is version 162 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.