InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: WFS1

Summary

InnateDB Gene

IDBG-643358.3

Last Modified

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

Gene Symbol

WFS1

Gene Name

Uncharacterized protein

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000046671

Encoded Proteins

IDBP-695917

Wolfram syndrome 1 (wolframin)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000109501:
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:104673701-104696495

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000066249

ENSBTAP00000056322

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Predicted by orthology
Total	8 [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:0007601	visual perception
GO:0007605	sensory perception of sound
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: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