BC030130
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
100,292 Da
NCBI Official Full Name
Homo sapiens Wolfram syndrome 1 (wolframin), mRNA
NCBI Official Synonym Full Names
wolframin ER transmembrane glycoprotein
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: Membrane protein, multi-pass; Membrane protein, integral; Endoplasmic reticulum
Chromosomal Location of Human Ortholog: 4p16.1
Cellular Component: dendrite; endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane
Molecular Function: ATPase binding; protein binding; ubiquitin protein ligase binding
Biological Process: calcium ion homeostasis; 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; positive regulation of calcium ion transport; positive regulation of growth; positive regulation of protein metabolic process; positive regulation of protein ubiquitination; 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
Research Articles on WFS1
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Pathways associated with WFS1 cdna clone
Diseases associated with WFS1 cdna clone
Organs/Tissues associated with WFS1 cdna clone
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