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O76024

- WFS1_HUMAN

UniProt

O76024 - WFS1_HUMAN

Protein

Wolframin

Gene

WFS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    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

    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

    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.
    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.
    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 nonsyndromic sensorineural deafness type DFNA.
    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

    ArrayExpressiO76024.
    BgeeiO76024.
    CleanExiHS_WFS1.
    GenevestigatoriO76024.

    Organism-specific databases

    HPAiHPA029128.

    Interactioni

    Protein-protein interaction databases

    BioGridi113304. 8 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.
    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

    « Hide

    MDSNTAPLGP SCPQPPPAPQ PQARSRLNAT ASLEQERSER PRAPGPQAGP    50
    GPGVRDAAAP AEPQAQHTRS RERADGTGPT KGDMEIPFEE VLERAKAGDP 100
    KAQTEVGKHY LQLAGDTDEE LNSCTAVDWL VLAAKQGRRE AVKLLRRCLA 150
    DRRGITSENE REVRQLSSET DLERAVRKAA LVMYWKLNPK KKKQVAVAEL 200
    LENVGQVNEH DGGAQPGPVP KSLQKQRRML ERLVSSESKN YIALDDFVEI 250
    TKKYAKGVIP SSLFLQDDED DDELAGKSPE DLPLRLKVVK YPLHAIMEIK 300
    EYLIDMASRA GMHWLSTIIP THHINALIFF FIVSNLTIDF FAFFIPLVIF 350
    YLSFISMVIC TLKVFQDSKA WENFRTLTDL LLRFEPNLDV EQAEVNFGWN 400
    HLEPYAHFLL SVFFVIFSFP IASKDCIPCS ELAVITGFFT VTSYLSLSTH 450
    AEPYTRRALA TEVTAGLLSL LPSMPLNWPY LKVLGQTFIT VPVGHLVVLN 500
    VSVPCLLYVY LLYLFFRMAQ LRNFKGTYCY LVPYLVCFMW CELSVVILLE 550
    STGLGLLRAS IGYFLFLFAL PILVAGLALV GVLQFARWFT SLELTKIAVT 600
    VAVCSVPLLL RWWTKASFSV VGMVKSLTRS SMVKLILVWL TAIVLFCWFY 650
    VYRSEGMKVY NSTLTWQQYG ALCGPRAWKE TNMARTQILC SHLEGHRVTW 700
    TGRFKYVRVT DIDNSAESAI NMLPFFIGDW MRCLYGEAYP ACSPGNTSTA 750
    EEELCRLKLL AKHPCHIKKF DRYKFEITVG MPFSSGADGS RSREEDDVTK 800
    DIVLRASSEF KSVLLSLRQG SLIEFSTILE GRLGSKWPVF ELKAISCLNC 850
    MAQLSPTRRH VKIEHDWRST VHGAVKFAFD FFFFPFLSAA 890
    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.
    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.
    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. 8 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 nonsyndromic sensorineural deafness type DFNA.
    98991. Nuclear cataract.
    3463. Wolfram syndrome.
    PharmGKBi PA37365.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82472.
    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

    ArrayExpressi O76024.
    Bgeei O76024.
    CleanExi HS_WFS1.
    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

    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 1, 2014
    This is version 146 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