Recombinant Human Wolframin (WFS1)

Uniprot Id

O76024

Target Species

Human

Target Name

WFS1

Target Full Name

Wolframin

Target Function

Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism.

Target Involvement

Wolfram syndrome 1 (WFS1); Deafness, autosomal dominant, 6 (DFNA6); Wolfram-like syndrome autosomal dominant (WFSL); Cataract 41 (CTRCT41)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle.

Target Tissue Specificity

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.

Target Research Area

Cancer

Target Synonyms

WFS1; Wolframin

Target Background

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.