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O76024

- WFS1_HUMAN

UniProt

O76024 - WFS1_HUMAN

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Protein

Wolframin

Gene

WFS1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. activating transcription factor binding Source: BHF-UCL
  2. ATPase binding Source: BHF-UCL
  3. transporter activity Source: BHF-UCL
  4. ubiquitin protein ligase binding Source: BHF-UCL

GO - Biological processi

  1. activation of signaling protein activity involved in unfolded protein response Source: Reactome
  2. calcium ion homeostasis Source: BHF-UCL
  3. cellular protein metabolic process Source: Reactome
  4. endoplasmic reticulum calcium ion homeostasis Source: BHF-UCL
  5. endoplasmic reticulum unfolded protein response Source: BHF-UCL
  6. ER-associated ubiquitin-dependent protein catabolic process Source: BHF-UCL
  7. ER overload response Source: BHF-UCL
  8. glucose homeostasis Source: BHF-UCL
  9. kidney development Source: BHF-UCL
  10. negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Source: BHF-UCL
  11. negative regulation of neuron apoptotic process Source: BHF-UCL
  12. negative regulation of programmed cell death Source: BHF-UCL
  13. negative regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  14. negative regulation of type B pancreatic cell apoptotic process Source: BHF-UCL
  15. neurological system process Source: BHF-UCL
  16. olfactory behavior Source: Ensembl
  17. polyubiquitinated misfolded protein transport Source: BHF-UCL
  18. positive regulation of calcium ion transport Source: BHF-UCL
  19. positive regulation of growth Source: BHF-UCL
  20. positive regulation of protein metabolic process Source: BHF-UCL
  21. positive regulation of protein ubiquitination Source: BHF-UCL
  22. positive regulation of proteolysis Source: BHF-UCL
  23. protein maturation by protein folding Source: BHF-UCL
  24. protein stabilization Source: BHF-UCL
  25. renal water homeostasis Source: BHF-UCL
  26. response to endoplasmic reticulum stress Source: BHF-UCL
  27. sensory perception of sound Source: BHF-UCL
  28. visual perception Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_18273. XBP1(S) activates chaperone genes.

Names & Taxonomyi

Protein namesi
Recommended name:
Wolframin
Gene namesi
Name:WFS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:12762. WFS1.

Subcellular locationi

GO - Cellular componenti

  1. dendrite Source: BHF-UCL
  2. endoplasmic reticulum Source: BHF-UCL
  3. endoplasmic reticulum membrane Source: Reactome
  4. integral component of endoplasmic reticulum membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581A → V in WFS1. 1 Publication
VAR_011305
Natural varianti110 – 1101Y → N in WFS1. 1 Publication
VAR_029499
Natural varianti126 – 1261A → T in WFS1. 1 Publication
VAR_011306
Natural varianti133 – 1331A → T in WFS1. 1 Publication
VAR_014034
Natural varianti169 – 1691E → K in WFS1.
VAR_009109
Natural varianti292 – 2921P → S in WFS1.
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.
VAR_009114
Natural varianti443 – 4431S → I in WFS1. 1 Publication
VAR_011308
Natural varianti457 – 4571R → S in WFS1. 1 Publication
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
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.
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
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.
VAR_009119
Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti634 – 6341K → T in DFNA6. 1 Publication
VAR_032963
Natural varianti699 – 6991T → M in DFNA6. 1 Publication
Corresponds to variant rs28937894 [ dbSNP | Ensembl ].
VAR_032964
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
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
VAR_068347
Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti684 – 6841A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 Publications
VAR_011310
Natural varianti780 – 7801G → S in WFSL; mildly decreases protein expression compared to wild-type. 1 Publication
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
VAR_032969
Cataract 41 (CTRCT41) [MIM:116400]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti462 – 4621E → G in CTRCT41. 1 Publication
VAR_070935

Keywords - Diseasei

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

Organism-specific databases

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.

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-acetylmethionine1 Publication
Glycosylationi661 – 6611N-linked (GlcNAc...)Curated
Glycosylationi746 – 7461N-linked (GlcNAc...)Curated

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiO76024.
PaxDbiO76024.
PRIDEiO76024.

PTM databases

PhosphoSiteiO76024.

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

BgeeiO76024.
CleanExiHS_WFS1.
ExpressionAtlasiO76024. baseline and differential.
GenevestigatoriO76024.

Organism-specific databases

HPAiHPA029128.

Interactioni

Protein-protein interaction databases

BioGridi113304. 10 interactions.
IntActiO76024. 3 interactions.
MINTiMINT-1418252.
STRINGi9606.ENSP00000226760.

Structurei

3D structure databases

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

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini653 – 869217LumenalSequence AnalysisAdd
BLAST

Transmembrane

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
Transmembranei870 – 89021HelicalSequence AnalysisAdd
BLAST

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

eggNOGiNOG82472.
GeneTreeiENSGT00390000016928.
HOGENOMiHOG000132944.
HOVERGENiHBG014957.
InParanoidiO76024.
KOiK14020.
OMAiGWNHLEP.
OrthoDBiEOG7F24S4.
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

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        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
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
VAR_011306
Natural varianti133 – 1331A → T in WFS1. 1 Publication
VAR_014034
Natural varianti169 – 1691E → K in WFS1.
VAR_009109
Natural varianti193 – 1931K → Q.
Corresponds to variant rs41264699 [ dbSNP | Ensembl ].
VAR_014995
Natural varianti292 – 2921P → S in WFS1.
VAR_009110
Natural varianti296 – 2961I → S in WFS1.
VAR_009111
Natural varianti326 – 3261A → V.1 Publication
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.
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
VAR_029502
Natural varianti461 – 4633Missing in WFS1. 1 Publication
VAR_014035
Natural varianti462 – 4621E → G in CTRCT41. 1 Publication
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
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
VAR_032963
Natural varianti653 – 6531R → C in a patient with type 2 diabetes. 1 Publication
VAR_014037
Natural varianti669 – 6691Y → C in WFS1. 1 Publication
VAR_014038
Natural varianti674 – 6741G → R.1 Publication
VAR_011309
Natural varianti684 – 6841A → V in WFSL; greatly reduces protein expression compared to wild-type. 2 Publications
VAR_011310
Natural varianti690 – 6901C → R in WFS1.
VAR_009116
Natural varianti695 – 6951G → V in WFS1. 1 Publication
Corresponds to variant rs28937891 [ dbSNP | Ensembl ].
VAR_005844
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 varianti708 – 7081R → C.1 Publication
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
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
VAR_068344
Natural varianti797 – 7971D → Y in WFSL. 1 Publication
VAR_068345
Natural varianti802 – 8021I → V.1 Publication
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
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
VAR_068347
Natural varianti864 – 8641E → K in WFSL. 1 Publication
VAR_032969
Natural varianti871 – 8711V → M.2 Publications
Corresponds to variant rs71532874 [ dbSNP | Ensembl ].
VAR_014996
Natural varianti885 – 8851P → L in WFS1; mild form.
VAR_009119

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3386.1.
RefSeqi NP_001139325.1. NM_001145853.1.
NP_005996.2. NM_006005.3.
UniGenei Hs.518602.
Hs.727283.

3D structure databases

ProteinModelPortali O76024.
SMRi O76024. Positions 82-163.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113304. 10 interactions.
IntActi O76024. 3 interactions.
MINTi MINT-1418252.
STRINGi 9606.ENSP00000226760.

PTM databases

PhosphoSitei O76024.

Proteomic databases

MaxQBi O76024.
PaxDbi O76024.
PRIDEi O76024.

Protocols and materials databases

DNASUi 7466.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000226760 ; ENSP00000226760 ; ENSG00000109501 .
ENST00000503569 ; ENSP00000423337 ; ENSG00000109501 .
GeneIDi 7466.
KEGGi hsa:7466.
UCSCi uc003gix.3. human.

Organism-specific databases

CTDi 7466.
GeneCardsi GC04P006271.
GeneReviewsi WFS1.
H-InvDB HIX0004060.
HGNCi HGNC:12762. WFS1.
HPAi HPA029128.
MIMi 116400. phenotype.
222300. phenotype.
600965. phenotype.
606201. gene.
614296. phenotype.
neXtProti NX_O76024.
Orphaneti 90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
1215. Autosomal dominant optic atrophy plus syndrome.
98991. Nuclear cataract.
3463. Wolfram syndrome.
PharmGKBi PA37365.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82472.
GeneTreei ENSGT00390000016928.
HOGENOMi HOG000132944.
HOVERGENi HBG014957.
InParanoidi O76024.
KOi K14020.
OMAi GWNHLEP.
OrthoDBi EOG7F24S4.
PhylomeDBi O76024.
TreeFami TF326849.

Enzyme and pathway databases

Reactomei REACT_18273. XBP1(S) activates chaperone genes.

Miscellaneous databases

GeneWikii WFS1.
GenomeRNAii 7466.
NextBioi 29240.
PROi O76024.
SOURCEi Search...

Gene expression databases

Bgeei O76024.
CleanExi HS_WFS1.
ExpressionAtlasi O76024. baseline and differential.
Genevestigatori O76024.

Family and domain databases

InterProi IPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view ]
PANTHERi PTHR13098. PTHR13098. 1 hit.
PRINTSi PR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein."
    Strom T.M., Hoertnagel K., Hofmann S., Gekeler F., Scharfe C., Rabl W., Gerbitz K.-D., Meitinger T.
    Hum. Mol. Genet. 7:2021-2028(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WFS1 461-THR--VAL-463 DEL; ILE-333 AND CYS-669.
    Tissue: Brain.
  2. "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome)."
    Inoue H., Tanizawa Y., Wasson J., Behn P., Kalidas K., Bernal-Mizrachi E., Mueckler M., Marshall H., Donis-Keller H., Crock P., Rogers D., Mikuni M., Kumashiro H., Higashi K., Sobue G., Oka Y., Permutt M.A.
    Nat. Genet. 20:143-148(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WFS1 LEU-504; 508-TYR--LEU-512 DEL; VAL-695 AND LEU-724, VARIANTS ILE-333; HIS-456 AND HIS-611.
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-333.
    Tissue: Amygdala.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT HIS-611.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  7. "WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum."
    Takei D., Ishihara H., Yamaguchi S., Yamada T., Tamura A., Katagiri H., Maruyama Y., Oka Y.
    FEBS Lett. 580:5635-5640(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."
    Khanim F., Kirk J., Latif F., Barrett T.G.
    Hum. Mutat. 17:357-367(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1."
    Hardy C., Khanim F., Torres R., Scott-Brown M., Seller A., Poulton J., Collier D., Kirk J., Polymeropoulos M., Latif F., Barrett T.
    Am. J. Hum. Genet. 65:1279-1290(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WFS1, VARIANTS ILE-333 AND HIS-611.
  12. "A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases."
    Furlong R.A., Ho L.W., Rubinsztein J.S., Michael A., Walsh C., Paykel E.S., Rubinsztein D.C.
    Neurosci. Lett. 277:123-126(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-559 AND HIS-611.
  13. "Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis."
    Awata T., Inoue K., Kurihara S., Ohkubo T., Inoue I., Abe T., Takino H., Kanazawa Y., Katayama S.
    Biochem. Biophys. Res. Commun. 268:612-616(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HIS-456; SER-576; HIS-611; CYS-653 AND VAL-720.
  14. "WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder."
    Ohtsuki T., Ishiguro H., Yoshikawa T., Arinami T.
    J. Affect. Disord. 58:11-17(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HIS-456; SER-576; HIS-611; VAL-720 AND LYS-737.
  15. Cited for: VARIANTS DFNA6 MET-699; THR-716; MET-779; PRO-829 AND ASP-831, VARIANT ILE-333.
  16. "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1."
    Young T.-L., Ives E., Lynch E., Person R., Snook S., MacLaren L., Cater T., Griffin A., Fernandez B., Lee M.K., King M.-C.
    Hum. Mol. Genet. 10:2509-2514(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA6 THR-716, VARIANTS ARG-107; ILE-333; HIS-611 AND MET-871.
  17. "Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."
    Tessa A., Carbone I., Matteoli M.C., Bruno C., Patrono C., Patera I.P., De Luca F., Lorini R., Santorelli F.M.
    Hum. Mutat. 17:348-349(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WFS1 ILE-443, VARIANTS ILE-333; HIS-611; VAL-684 AND CYS-708.
  18. "Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family."
    Komatsu K., Nakamura N., Ghadami M., Matsumoto N., Kishino T., Ohta T., Niikawa N., Yoshiura K.
    J. Hum. Genet. 47:395-399(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA6 THR-634.
  19. "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."
    Gomez-Zaera M., Strom T.M., Rodriguez B., Estivill X., Meitinger T., Nunes V.
    Mol. Genet. Metab. 72:72-81(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WFS1 VAL-58; THR-126; PHE-350 DEL; PHE-354 DEL; LEU-504; ARG-780 AND CYS-818, VARIANTS ARG-674 AND LYS-737.
  20. "Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene."
    Giuliano F., Bannwarth S., Monnot S., Cano A., Chabrol B., Vialettes B., Delobel B., Paquis-Flucklinger V.
    Hum. Mutat. 25:99-100(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WFS1 ASN-110; THR-133; PHE-414 DEL; VAL-415 DEL; SER-457; LEU-468 DEL; LEU-504; TRP-540 DEL; TRP-629 AND SER-736, VARIANTS VAL-326; ILE-333; HIS-456; HIS-611; VAL-802 AND MET-871.
  21. "Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene."
    Eiberg H., Hansen L., Kjer B., Hansen T., Pedersen O., Bille M., Rosenberg T., Tranebjaerg L.
    J. Med. Genet. 43:435-440(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WFSL LYS-864.
  22. "Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1."
    Hildebrand M.S., Sorensen J.L., Jensen M., Kimberling W.J., Smith R.J.
    Am. J. Med. Genet. A 146:2258-2265(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA6 GLN-859, VARIANTS ILE-333 AND HIS-611.
  23. "Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1."
    Hogewind B.F., Pennings R.J., Hol F.A., Kunst H.P., Hoefsloot E.H., Cruysberg J.R., Cremers C.W.
    Mol. Vis. 16:26-35(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WFSL ASN-836.
  24. Cited for: VARIANTS WFSL VAL-684; SER-780 AND TYR-797, VARIANT WFS1 VAL-415 DEL, CHARACTERIZATION OF VARIANTS WFSL VAL-684 AND SER-780, CHARACTERIZATION OF VARIANT WFS1 VAL-415 DEL.
  25. "Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease."
    Lieber D.S., Vafai S.B., Horton L.C., Slate N.G., Liu S., Borowsky M.L., Calvo S.E., Schmahmann J.D., Mootha V.K.
    BMC Med. Genet. 13:3-3(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WFS1 CYS-558.
  26. "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans."
    Berry V., Gregory-Evans C., Emmett W., Waseem N., Raby J., Prescott D., Moore A.T., Bhattacharya S.S.
    Eur. J. Hum. Genet. 21:1356-1360(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT41 GLY-462.

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: October 29, 2014
This is version 147 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

External Data

Dasty 3