WFS1

WFS1
Identifiers
Aliases	WFS1, CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein
External IDs	MGI: 1328355 HomoloGene: 4380 GeneCards: WFS1
Gene ontology Molecular function • ATPase binding • activating transcription factor binding • protein binding • ubiquitin protein ligase binding • calcium-dependent protein binding • calmodulin binding Cellular component • integral component of membrane • endoplasmic reticulum membrane • membrane • integral component of endoplasmic reticulum membrane • dendrite • endoplasmic reticulum • proteasome complex • endoplasmic reticulum lumen Biological process • negative regulation of neuron apoptotic process • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway • positive regulation of adenylate cyclase activity • calcium ion homeostasis • glucose homeostasis • kidney development • protein stabilization • nervous system process • positive regulation of growth • negative regulation of transcription from RNA polymerase II promoter • sensory perception of sound • endoplasmic reticulum calcium ion homeostasis • protein maturation by protein folding • negative regulation of ATF6-mediated unfolded protein response • negative regulation of sequence-specific DNA binding transcription factor activity • response to endoplasmic reticulum stress • positive regulation of protein metabolic process • ER overload response • IRE1-mediated unfolded protein response • ubiquitin-dependent ERAD pathway • renal water homeostasis • negative regulation of programmed cell death • positive regulation of protein ubiquitination • negative regulation of type B pancreatic cell apoptotic process • visual perception • positive regulation of calcium ion transport • pancreas development • endoplasmic reticulum unfolded protein response • olfactory behavior • post-translational protein modification • cellular protein metabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7466	22393
Ensembl	ENSG00000109501	ENSMUSG00000039474
UniProt	O76024	P56695
RefSeq (mRNA)	NM_006005 NM_001145853	NM_011716
RefSeq (protein)	NP_001139325 NP_005996	NP_035846
Location (UCSC)	Chr 4: 6.27 – 6.3 Mb	Chr 5: 36.97 – 36.99 Mb
PubMed search

7466

22393

ENSG00000109501

ENSMUSG00000039474

O76024

P56695

NM_006005
NM_001145853

NM_011716

NP_001139325
NP_005996

NP_035846

Wolframin is a protein that in humans is encoded by the WFS1 gene.

Wolframin is a transmembrane protein. Wolframin appears to function as a cation-selective ion channel.

Mutations in this gene are associated with an autosomal recessive syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.

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