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Wolframin (WFS1)
Function:
- role in the regulation of cellular Ca+2 homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca+2 store
Compartment:
- endoplasmic reticulum membrane
- multi-pass membrane protein
Expression:
- highly expressed in heart followed by brain, placenta, lung & pancreas
- weakly expressed in liver, kidney & skeletal muscle
- also expressed in islet & beta-cell insulinoma cell line
Polymorphism:
- Arg-456-His, Arg-611-His & Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another & associated with type 1 diabetes in Japanese
Pathology:
- defects in WFS1 are the cause of
a) Wolfram syndrome
b) autosomal dominant nonsyndromic sensorineural deafness 14
Related
Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD)
General
membrane protein
phosphoprotein
Properties
SIZE: entity length = 890 aa
MW = 100 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: Ser phosphorylation site {S32}
lysine-rich region {190-193}
MOTIF: lysine residue (SEVERAL)
transmembrane domain {314-334}
transmembrane domain {340-360}
transmembrane domain {402-422}
transmembrane domain {427-447}
transmembrane domain {465-485}
transmembrane domain {496-516}
transmembrane domain {529-549}
transmembrane domain {563-583}
transmembrane domain {589-609}
transmembrane domain {632-652}
transmembrane domain {870-890}
Database Correlations
OMIM correlations
MORBIDMAP 606201
UniProt O76024
Entrez Gene 7466
Kegg hsa:7466
References
- UniProt :accession O76024
- WFS1 gene mutation & polymorphism database
http://www.khri.med.umich.edu/research/lesperance_lab/low_freq.php
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/WFS1