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Ask your administrator if you think this is wrong. ======= WFS1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: WFS1 * **<color #00a2e8>Official Name</color>**: wolframin ER transmembrane glycoprotein * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7466|7466]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O76024|O76024]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=WFS1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20WFS1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606201|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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:0000269|PubMed:16989814}. <button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |negative regulation of ATF6-mediated unfolded protein response| |regulation of ATF6-mediated unfolded protein response| |negative regulation of type B pancreatic cell apoptotic process| |regulation of type B pancreatic cell apoptotic process| |protein maturation by protein folding| |olfactory behavior| |negative regulation of endoplasmic reticulum unfolded protein response| |ER overload response| |proteasome binding| |chemosensory behavior| |negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway| |endoplasmic reticulum calcium ion homeostasis| |regulation of endoplasmic reticulum unfolded protein response| |regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway| |activating transcription factor binding| |integral component of synaptic vesicle membrane| |renal water homeostasis| |ER-nucleus signaling pathway| |negative regulation of epithelial cell apoptotic process| |negative regulation of response to endoplasmic reticulum stress| |IRE1-mediated unfolded protein response| |calcium-dependent protein binding| |multicellular organismal water homeostasis| |ubiquitin-dependent ERAD pathway| |pancreas development| |water homeostasis| |regulation of epithelial cell apoptotic process| |ATPase binding| |regulation of response to endoplasmic reticulum stress| |ERAD pathway| |negative regulation of intrinsic apoptotic signaling pathway| |endoplasmic reticulum unfolded protein response| |integral component of endoplasmic reticulum membrane| |renal system process| |positive regulation of protein ubiquitination| |positive regulation of calcium ion transport| |cellular response to unfolded protein| |positive regulation of protein modification by small protein conjugation or removal| |negative regulation of neuron apoptotic process| |sensory perception of sound| |cellular response to topologically incorrect protein| |regulation of intrinsic apoptotic signaling pathway| |negative regulation of DNA-binding transcription factor activity| |response to unfolded protein| |sensory perception of mechanical stimulus| |protein stabilization| |glucose homeostasis| |carbohydrate homeostasis| |response to topologically incorrect protein| |regulation of protein ubiquitination| |calmodulin binding| |regulation of neuron apoptotic process| |negative regulation of neuron death| |cellular response to biotic stimulus| |visual perception| |sensory perception of light stimulus| |protein maturation| |negative regulation of apoptotic signaling pathway| |regulation of protein modification by small protein conjugation or removal| |protein folding| |regulation of calcium ion transport| |response to endoplasmic reticulum stress| |positive regulation of growth| |kidney development| |positive regulation of ion transport| |renal system development| |regulation of protein stability| |ubiquitin protein ligase binding| |endoplasmic reticulum lumen| |regulation of neuron death| |urogenital system development| |proteasome-mediated ubiquitin-dependent protein catabolic process| |multicellular organismal homeostasis| |proteasomal protein catabolic process| |post-translational protein modification| |regulation of metal ion transport| |regulation of apoptotic signaling pathway| |dendrite| |regulation of DNA-binding transcription factor activity| |cellular calcium ion homeostasis| |calcium ion homeostasis| |cellular divalent inorganic cation homeostasis| |divalent inorganic cation homeostasis| |regulation of body fluid levels| |negative regulation of intracellular signal transduction| |ubiquitin-dependent protein catabolic process| |modification-dependent protein catabolic process| |modification-dependent macromolecule catabolic process| |cellular metal ion homeostasis| |behavior| |proteolysis involved in cellular protein catabolic process| |cellular protein catabolic process| |metal ion homeostasis| |cellular cation homeostasis| |cellular ion homeostasis| |regulation of growth| |protein catabolic process| |regulation of ion transport| |cation homeostasis| |inorganic ion homeostasis| |regulation of cellular response to stress| |cellular chemical homeostasis| |ion homeostasis| |negative regulation of transcription by RNA polymerase II| |negative regulation of apoptotic process| |cellular homeostasis| |cellular macromolecule catabolic process| |negative regulation of programmed cell death| |endoplasmic reticulum membrane| |sensory perception| |positive regulation of transport| |negative regulation of cell death| |response to organonitrogen compound| |endoplasmic reticulum| |macromolecule catabolic process| |organonitrogen compound catabolic process| |response to nitrogen compound| |chemical homeostasis| |negative regulation of molecular function| |negative regulation of transcription, DNA-templated| |positive regulation of protein modification process| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of signal transduction| |proteolysis| |response to biotic stimulus| |negative regulation of RNA metabolic process| |negative regulation of cell communication| |negative regulation of signaling| |nervous system process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |regulation of response to stress| |negative regulation of cellular biosynthetic process| |regulation of apoptotic process| |negative regulation of biosynthetic process| |regulation of programmed cell death| |positive regulation of cellular protein metabolic process| |negative regulation of response to stimulus| |homeostatic process| |regulation of cell death| |cellular response to stress| |positive regulation of protein metabolic process| |negative regulation of gene expression| |organic substance catabolic process| |cellular catabolic process| |regulation of intracellular signal transduction| |regulation of protein modification process| |regulation of transport| |system process| |gene expression| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|-1.96| |[[:results:exp442|Ibrutinib 10μM R08 exp442]]|-1.76| |[[:results:exp152|SGC2043 10μM R03 exp152]]|-1.76| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 18985 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.12 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='WFS1 Expression in NALM6 Cells: 4.12'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:37by 127.0.0.1