EAW82398.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
100,292 Da
NCBI Official Full Name
Wolfram syndrome 1 (wolframin), isoform CRA_a
NCBI Official Synonym Full Names
Wolfram syndrome 1 (wolframin)
NCBI Protein Information
wolframin
UniProt Protein Name
Wolframin
UniProt Entry Name
WFS1_HUMAN
NCBI Summary for WFS1
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]
UniProt Comments for WFS1
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, integral; Membrane protein, multi-pass
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; protein stabilization; olfactory behavior; 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; sensory perception of sound; cellular protein metabolic process; visual perception; positive regulation of protein ubiquitination; negative regulation of programmed cell death; renal water homeostasis; negative regulation of neuron apoptosis; kidney development; positive regulation of calcium ion transport; 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
Research Articles on WFS1
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Products associated with WFS1 clia kit
Pathways associated with WFS1 clia kit
Diseases associated with WFS1 clia kit
Organs/Tissues associated with WFS1 clia kit
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