InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WFS1

Summary

InnateDB Protein

IDBP-474228.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

WFS1

Protein Name

Wolfram syndrome 1 (wolframin)

Synonyms

CTRCT41; WFRS; WFS; WFSL;

Species

Homo sapiens

Ensembl Protein

ENSP00000423337

InnateDB Gene

IDBG-8903 (WFS1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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.

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.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0031625	ubiquitin protein ligase binding
GO:0033613	activating transcription factor binding
GO:0051117	ATPase binding

Biological Process

GO:0001822	kidney development
GO:0003091	renal water homeostasis
GO:0006983	ER overload response
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0022417	protein maturation by protein folding
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0031398	positive regulation of protein ubiquitination
GO:0032469	endoplasmic reticulum calcium ion homeostasis
GO:0034976	response to endoplasmic reticulum stress
GO:0042593	glucose homeostasis
GO:0043069	negative regulation of programmed cell death
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043524	negative regulation of neuron apoptotic process
GO:0044267	cellular protein metabolic process
GO:0045862	positive regulation of proteolysis
GO:0045927	positive regulation of growth
GO:0050821	protein stabilization
GO:0050877	neurological system process
GO:0051247	positive regulation of protein metabolic process
GO:0051928	positive regulation of calcium ion transport
GO:0055074	calcium ion homeostasis
GO:0070845	polyubiquitinated misfolded protein transport
GO:1902236	negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:2000675	negative regulation of type B pancreatic cell apoptotic process

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0030425	dendrite