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Protein

Wolframin

Gene

Wfs1

Organism
Mus musculus (Mouse)
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.By similarity

GO - Molecular functioni

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

GO - Biological processi

  • calcium ion homeostasis Source: BHF-UCL
  • endoplasmic reticulum calcium ion homeostasis Source: BHF-UCL
  • endoplasmic reticulum unfolded protein response Source: BHF-UCL
  • ER-associated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
  • glucose homeostasis Source: BHF-UCL
  • kidney development Source: BHF-UCL
  • negative regulation of ATF6-mediated unfolded protein response Source: MGI
  • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Source: BHF-UCL
  • 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: MGI
  • negative regulation of transcription from RNA polymerase II promoter Source: MGI
  • 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: CACAO
  • 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 stabilization Source: ParkinsonsUK-UCL
  • regulation of cell cycle Source: BHF-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...

Names & Taxonomyi

Protein namesi
Recommended name:
Wolframin
Gene namesi
Name:Wfs1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:1328355. 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

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 890890WolframinPRO_0000065964Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Modified residuei30 – 301PhosphothreonineBy similarity
Modified residuei32 – 321PhosphoserineCombined sources
Modified residuei158 – 1581PhosphoserineCombined sources
Glycosylationi663 – 6631N-linked (GlcNAc...)1 Publication
Glycosylationi748 – 7481N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP56695.
PaxDbiP56695.
PRIDEiP56695.

PTM databases

iPTMnetiP56695.
PhosphoSiteiP56695.

Expressioni

Tissue specificityi

Highly expressed in the developing lens.1 Publication

Gene expression databases

BgeeiP56695.
CleanExiMM_WFS1.
ExpressionAtlasiP56695. baseline and differential.
GenevisibleiP56695. MM.

Interactioni

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi204558. 1 interaction.
STRINGi10090.ENSMUSP00000048053.

Structurei

3D structure databases

ProteinModelPortaliP56695.
SMRiP56695. Positions 121-157.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi13 – 219Poly-Pro
Compositional biasi191 – 1944Poly-Lys
Compositional biasi877 – 88610Poly-Phe

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IDYG. Eukaryota.
ENOG4111MAM. LUCA.
HOGENOMiHOG000132944.
HOVERGENiHBG014957.
InParanoidiP56695.
KOiK14020.
OMAiGWNHLEP.
OrthoDBiEOG7F24S4.
PhylomeDBiP56695.
TreeFamiTF326849.

Family and domain databases

InterProiIPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view]
PANTHERiPTHR13098. PTHR13098. 1 hit.
PRINTSiPR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.

Sequencei

Sequence statusi: Complete.

P56695-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNSGTPPPSP SGPPPPPAPQ PQARARLNAT ASLEQDKIEP PRAPRPQADP
60 70 80 90 100
SAGRSAGEAA APEPRAPQTG SREETDRAGP MKADVEIPFE EVLEKAKAGD
110 120 130 140 150
PKAQTEVGKH YLRLANDADE ELNSCSAVAW LILAAKQGRR EAVKLLRRCL
160 170 180 190 200
ADRKGITSEN EAEVKQLSSE TDLERAVRKA ALVMYWKLNP KKKKQVAVSE
210 220 230 240 250
LLENVGQVNE QDGGAQPGPV PKSLQKQRRM LERLVSSESK NYIALDDFVE
260 270 280 290 300
LTKKYAKGII PTNLFLQDED EDEDELAGKS PEDLPLRQKV VKYPLHAIME
310 320 330 340 350
IKEYLIDVAS KAGMHWLSTI VPTHHINALI FFFIISNLTI DFFAFFIPLV
360 370 380 390 400
VFYLSFVSMV ICTLKVFQDS KAWENFRTLT DLLLRFEPNL DVEQAEVNFG
410 420 430 440 450
WNHLEPYIHF LLSVVFVIFS FPLASKDCIP CSELAVISTF FTVTSYMSLS
460 470 480 490 500
SSAEPYTRRA LVTEVAAGLL SLLPTVPVDW RFLKVLGQTF FTVPVGHFII
510 520 530 540 550
LNVSLPCLLY VYLFYLFFRM AQLRNFKGTY CYLVPYLVCF MWCELSVVIL
560 570 580 590 600
LQSTGLGLVR ASIGYFLFLF ALPILVAGLA LMGTVQFARW FLSLDLTKIM
610 620 630 640 650
VTTVICGVPL LFRWWTKANF SVMGMVKSLT KSSMVKLILV WLTAILLFCW
660 670 680 690 700
FYVYRSEGMK VYNSTLTWQQ YGFLCGPRAW KETNMARTQI LCSHLEGHRV
710 720 730 740 750
TWTGRFKYVR VTEIDNSAES AINMLPFFLG DWMRCLYGEA YPSCSSGNTS
760 770 780 790 800
TAEEELCRLK QLAKHPCHIK KFDRYKFEIT VGMPFGTNGN RGHEEDDITK
810 820 830 840 850
DIVLRASSEF KDVLLNLRQG SLIEFSTILE GRLGSKWPVF ELKAISCLNC
860 870 880 890
MTQLSPARRH VKIEQDWRST VHGALKFAFD FFFFPFLSAA
Length:890
Mass (Da):100,579
Last modified:July 15, 1999 - v1
Checksum:iCB6C6CA16171A942
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti215 – 2151A → V in AAC64944 (PubMed:9771706).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011971 mRNA. Translation: CAA09892.1.
AF084482 mRNA. Translation: AAC64944.1.
CCDSiCCDS19245.1.
RefSeqiNP_035846.1. NM_011716.2.
UniGeneiMm.20916.

Genome annotation databases

EnsembliENSMUST00000043964; ENSMUSP00000048053; ENSMUSG00000039474.
GeneIDi22393.
KEGGimmu:22393.
UCSCiuc008xff.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011971 mRNA. Translation: CAA09892.1.
AF084482 mRNA. Translation: AAC64944.1.
CCDSiCCDS19245.1.
RefSeqiNP_035846.1. NM_011716.2.
UniGeneiMm.20916.

3D structure databases

ProteinModelPortaliP56695.
SMRiP56695. Positions 121-157.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi204558. 1 interaction.
STRINGi10090.ENSMUSP00000048053.

PTM databases

iPTMnetiP56695.
PhosphoSiteiP56695.

Proteomic databases

EPDiP56695.
PaxDbiP56695.
PRIDEiP56695.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000043964; ENSMUSP00000048053; ENSMUSG00000039474.
GeneIDi22393.
KEGGimmu:22393.
UCSCiuc008xff.1. mouse.

Organism-specific databases

CTDi7466.
MGIiMGI:1328355. Wfs1.

Phylogenomic databases

eggNOGiENOG410IDYG. Eukaryota.
ENOG4111MAM. LUCA.
HOGENOMiHOG000132944.
HOVERGENiHBG014957.
InParanoidiP56695.
KOiK14020.
OMAiGWNHLEP.
OrthoDBiEOG7F24S4.
PhylomeDBiP56695.
TreeFamiTF326849.

Miscellaneous databases

ChiTaRSiWfs1. mouse.
PROiP56695.
SOURCEiSearch...

Gene expression databases

BgeeiP56695.
CleanExiMM_WFS1.
ExpressionAtlasiP56695. baseline and differential.
GenevisibleiP56695. MM.

Family and domain databases

InterProiIPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view]
PANTHERiPTHR13098. PTHR13098. 1 hit.
PRINTSiPR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.
ProtoNetiSearch...

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].
  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].
    Tissue: Insulinoma.
  3. "Endoplasmic reticulum stress and N-glycosylation modulate expression of WFS1 protein."
    Yamaguchi S., Ishihara H., Tamura A., Yamada T., Takahashi R., Takei D., Katagiri H., Oka Y.
    Biochem. Biophys. Res. Commun. 325:250-256(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-663 AND ASN-748.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-32 AND SER-158, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Brain, Brown adipose tissue, Heart, Kidney and Pancreas.
  5. "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: TISSUE SPECIFICITY.

Entry informationi

Entry nameiWFS1_MOUSE
AccessioniPrimary (citable) accession number: P56695
Secondary accession number(s): Q9Z276
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: June 8, 2016
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) 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.