WFS1

Wolframin is a protein that in humans is encoded by the WFS1 gene.^[5][6][7]

WFS1
Identifiers
Aliases	WFS1, CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein
External IDs	OMIM: 606201; MGI: 1328355; HomoloGene: 4380; GeneCards: WFS1; OMA:WFS1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.1 Start 6,269,849 bp[1] End 6,303,265 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B3 Start 37,123,448 bp[2] End 37,146,549 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ovary left ovary body of uterus nucleus accumbens stromal cell of endometrium popliteal artery tibial arteries ascending aorta right lung gastric mucosa Top expressed in olfactory tubercle nucleus accumbens Region I of hippocampus proper extraocular muscle digastric muscle thalamic reticular nucleus plantaris muscle aortic valve superior frontal gyrus sternocleidomastoid muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase binding protein binding ubiquitin protein ligase binding calcium-dependent protein binding calmodulin binding proteasome 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 integral component of synaptic vesicle membrane Biological process negative regulation of neuron apoptotic process negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway calcium ion homeostasis glucose homeostasis kidney development protein stabilization nervous system process positive regulation of growth negative regulation of transcription by RNA polymerase II hearing endoplasmic reticulum calcium ion homeostasis protein maturation by protein folding negative regulation of ATF6-mediated unfolded protein response negative regulation of DNA-binding transcription factor activity response to endoplasmic reticulum stress 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 Sources:Amigo / QuickGO
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: 37.12 – 37.15 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7] Wolframin appears to function as a cation-selective ion channel.^[8]

Clinical significance

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 is characterized by non-immune 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.^[7]

Mutations in this gene have also been associated with congenital cataracts.^[9]