WFS1 Antibody – Rabbit Polyclonal

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]

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.

Protein type: Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16.1

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; dendrite; integral to endoplasmic reticulum membrane

Molecular Function: calmodulin binding; transcription activator binding; transporter activity; ubiquitin protein ligase binding; calcium-dependent protein binding; ATPase binding

Biological Process: ER-associated protein catabolic process; protein maturation via protein folding; olfactory behavior; protein stabilization; positive regulation of proteolysis; unfolded protein response; negative regulation of transcription factor activity; glucose homeostasis; positive regulation of protein metabolic process; neurological system process; calcium ion homeostasis; endoplasmic reticulum calcium ion homeostasis; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; sensory perception of sound; visual perception; positive regulation of protein ubiquitination; negative regulation of programmed cell death; renal water homeostasis; negative regulation of neuron apoptosis; positive regulation of calcium ion transport; kidney development; positive regulation of growth; ER overload response

Disease: Deafness, Autosomal Dominant 6; Wolfram Syndrome 1; Wolfram-like Syndrome, Autosomal Dominant; Cataract 41; Diabetes Mellitus, Noninsulin-dependent