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HUMAN:WFS1
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | WFS1 | |
| Protein Name(s) | Wolframin | |
| External Links | ||
| UniProt | O76024 | |
| EMBL | Y18064 AF084481 AK312897 AC116317 CH471131 CH471131 CH471131 BC030130 | |
| IPI | IPI00008711 | |
| RefSeq | NP_001139325.1 NP_005996.2 | |
| UniGene | Hs.518602 Hs.725203 | |
| ProteinModelPortal | O76024 | |
| SMR | O76024 | |
| IntAct | O76024 | |
| MINT | MINT-1418252 | |
| STRING | O76024 | |
| PhosphoSite | O76024 | |
| PRIDE | O76024 | |
| Ensembl | ENST00000226760 | |
| GeneID | 7466 | |
| KEGG | hsa:7466 | |
| UCSC | uc003gix.1 | |
| CTD | 7466 | |
| GeneCards | GC04P006264 | |
| H-InvDB | HIX0004060 | |
| HGNC | HGNC:12762 | |
| HPA | HPA029128 | |
| MIM | 222300 600965 606201 | |
| neXtProt | NX_O76024 | |
| Orphanet | 90635 3463 | |
| PharmGKB | PA37365 | |
| eggNOG | prNOG06865 | |
| GeneTree | ENSGT00390000016928 | |
| HOGENOM | HBG444131 | |
| HOVERGEN | HBG014957 | |
| InParanoid | O76024 | |
| OMA | TIDFFAF | |
| PhylomeDB | O76024 | |
| Reactome | REACT_15380 | |
| NextBio | 29240 | |
| ArrayExpress | O76024 | |
| Bgee | O76024 | |
| CleanEx | HS_WFS1 | |
| Genevestigator | O76024 | |
| GermOnline | ENSG00000109501 | |
| GO | GO:0030425 GO:0030176 GO:0033613 GO:0051117 GO:0005215 GO:0031625 GO:0032469 GO:0030968 GO:0006983 GO:0030433 GO:0042593 GO:0001822 GO:0043524 GO:0043433 GO:0070845 GO:0051928 GO:0045927 GO:0031398 GO:0045862 GO:0022417 GO:0050821 GO:0003091 GO:0007605 GO:0007601 | |
| KO | K14020 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001822 |
kidney development |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0003091 |
renal water homeostasis |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0005215 |
transporter activity |
ISS: Inferred from Sequence or Structural Similarity |
F |
Seeded From UniProt |
||||
| GO:0005783 |
endoplasmic reticulum |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005783 |
endoplasmic reticulum |
ISS: Inferred from Sequence or Structural Similarity |
C |
Seeded From UniProt |
||||
| GO:0005789 |
endoplasmic reticulum membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0097 |
C |
Seeded From UniProt |
|||
| GO:0005789 |
endoplasmic reticulum membrane |
Reactome:REACT_115977 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0006983 |
ER overload response |
IC: Inferred by Curator |
GO:0032469 |
P |
Seeded From UniProt |
|||
| GO:0006983 |
ER overload response |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0006987 |
activation of signaling protein activity involved in unfolded protein response |
Reactome:REACT_18368 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0007601 |
visual perception |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0007601 |
visual perception |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0007605 |
sensory perception of sound |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0022417 |
protein maturation by protein folding |
IC: Inferred by Curator |
GO:0032469 |
P |
Seeded From UniProt |
|||
| GO:0030176 |
integral to endoplasmic reticulum membrane |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0030176 |
integral to endoplasmic reticulum membrane |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0030425 |
dendrite |
ISS: Inferred from Sequence or Structural Similarity |
C |
Seeded From UniProt |
||||
| GO:0030433 |
ER-associated protein catabolic process |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0030968 |
endoplasmic reticulum unfolded protein response |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0030968 |
endoplasmic reticulum unfolded protein response |
Reactome:REACT_18356 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0031398 |
positive regulation of protein ubiquitination |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0031625 |
ubiquitin protein ligase binding |
ISS: Inferred from Sequence or Structural Similarity |
F |
Seeded From UniProt |
||||
| GO:0032469 |
endoplasmic reticulum calcium ion homeostasis |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0033613 |
activating transcription factor binding |
ISS: Inferred from Sequence or Structural Similarity |
F |
Seeded From UniProt |
||||
| GO:0034976 |
response to endoplasmic reticulum stress |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0042593 |
glucose homeostasis |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0042981 |
regulation of apoptosis |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0043066 |
negative regulation of apoptosis |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0043069 |
negative regulation of programmed cell death |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0043433 |
negative regulation of sequence-specific DNA binding transcription factor activity |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0043524 |
negative regulation of neuron apoptosis |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0043524 |
negative regulation of neuron apoptosis |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0045862 |
positive regulation of proteolysis |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0045927 |
positive regulation of growth |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0050821 |
protein stabilization |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0050877 |
neurological system process |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0051117 |
ATPase binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0051247 |
positive regulation of protein metabolic process |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0051928 |
positive regulation of calcium ion transport |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0055074 |
calcium ion homeostasis |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0070845 |
polyubiquitinated misfolded protein transport |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
| |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Strom TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7: 2021-8 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 Takei D et al. (2006) WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett 580: 5635-40 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 Zatyka M et al. (2008) Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum Mol Genet 17: 190-200 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 Inoue H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20: 143-8 PubMed GONUTS page
- ↑ Fukuoka H et al. (2007) Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 52: 510-5 PubMed GONUTS page
- ↑ 6.0 6.1 Takeda K et al. (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 10: 477-84 PubMed GONUTS page
- ↑ 7.0 7.1 Osman AA et al. (2003) Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem 278: 52755-62 PubMed GONUTS page
- ↑ Ueda K et al. (2005) Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur J Endocrinol 153: 167-76 PubMed GONUTS page
- ↑ Philbrook C et al. (2005) Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp Gerontol 40: 671-8 PubMed GONUTS page
