InnateDB Protein
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IDBP-474228.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WFS1
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Protein Name
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Wolfram syndrome 1 (wolframin)
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Synonyms
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CTRCT41; WFRS; WFS; WFSL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000423337
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InnateDB Gene
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IDBG-8903 (WFS1)
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Protein Structure
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Function |
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. {ECO:0000269PubMed:16989814}.
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Subcellular Localization |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
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Disease Associations |
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. {ECO:0000269PubMed:10521293, ECO:0000269PubMed:11161832, ECO:0000269PubMed:11295831, ECO:0000269PubMed:15605410, ECO:0000269PubMed:21538838, ECO:0000269PubMed:22226368, ECO:0000269PubMed:9771706, ECO:0000269PubMed:9817917}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:11709537, ECO:0000269PubMed:11709538, ECO:0000269PubMed:12181639, ECO:0000269PubMed:18688868}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:16648378, ECO:0000269PubMed:20069065, ECO:0000269PubMed:21538838}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:23531866}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0001822
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kidney development
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GO:0003091
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renal water homeostasis
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GO:0006983
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ER overload response
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GO:0006987
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activation of signaling protein activity involved in unfolded protein response
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GO:0007601
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visual perception
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GO:0007605
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sensory perception of sound
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GO:0022417
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protein maturation by protein folding
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GO:0030433
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ER-associated ubiquitin-dependent protein catabolic process
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GO:0030968
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endoplasmic reticulum unfolded protein response
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GO:0031398
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positive regulation of protein ubiquitination
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GO:0032469
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endoplasmic reticulum calcium ion homeostasis
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GO:0034976
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response to endoplasmic reticulum stress
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GO:0042593
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glucose homeostasis
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GO:0043069
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negative regulation of programmed cell death
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GO:0043433
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negative regulation of sequence-specific DNA binding transcription factor activity
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GO:0043524
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negative regulation of neuron apoptotic process
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GO:0044267
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cellular protein metabolic process
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GO:0045862
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positive regulation of proteolysis
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GO:0045927
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positive regulation of growth
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GO:0050821
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protein stabilization
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GO:0050877
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neurological system process
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GO:0051247
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positive regulation of protein metabolic process
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GO:0051928
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positive regulation of calcium ion transport
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GO:0055074
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calcium ion homeostasis
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GO:0070845
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polyubiquitinated misfolded protein transport
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GO:1902236
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negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
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GO:2000675
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negative regulation of type B pancreatic cell apoptotic process
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O76024
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PhosphoSite |
PhosphoSite-O76024
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TrEMBL |
B4DJ99
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UniProt Splice Variant |
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Entrez Gene |
7466
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UniGene |
Hs.727283
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RefSeq |
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HUGO |
HGNC:12762
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OMIM |
606201
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CCDS |
CCDS3386
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HPRD |
05864
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IMGT |
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EMBL |
AC116317
AF084481
AK295986
AK312897
BC030130
CH471131
Y18064
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GenPept |
AAC64943
AAH30130
BAG35744
BAG58761
CAA77022
EAW82396
EAW82397
EAW82398
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