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WFS1 Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. 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. Note: This description may include information from UniProtKB.
Protein type: Endoplasmic reticulum; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 4p16.1
Cellular Component: dendrite; endoplasmic reticulum; endoplasmic reticulum lumen; endoplasmic reticulum membrane; integral component of endoplasmic reticulum membrane; proteasome complex
Molecular Function: activating transcription factor binding; ATPase binding; calcium-dependent protein binding; calmodulin binding; protein binding; ubiquitin protein ligase binding
Biological Process: calcium ion homeostasis; cellular protein metabolic process; endoplasmic reticulum calcium ion homeostasis; ER overload response; ER-associated protein catabolic process; glucose homeostasis; kidney development; negative regulation of neuron apoptosis; negative regulation of programmed cell death; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; neurological system process; olfactory behavior; pancreas development; positive regulation of adenylate cyclase activity; positive regulation of calcium ion transport; positive regulation of growth; positive regulation of protein metabolic process; positive regulation of protein ubiquitination; post-translational protein modification; protein maturation via protein folding; protein stabilization; renal water homeostasis; sensory perception of sound; visual perception
Disease: Cataract 41; Deafness, Autosomal Dominant 6; Diabetes Mellitus, Noninsulin-dependent; Wolfram Syndrome 1; Wolfram-like Syndrome, Autosomal Dominant
Reference #:  O76024 (UniProtKB)
Alt. Names/Synonyms: FLJ51211; WFRS; WFS; WFS1; Wolfram syndrome 1 (wolframin); Wolframin
Gene Symbols: WFS1
Molecular weight: 100,292 Da
Basal Isoelectric point: 8.34  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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