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

Pathology

• defects in WFS1 are the cause of
  • Wolfram syndrome
  • autosomal dominant nonsyndromic sensorineural deafness 14

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

More general terms

• membrane protein
• phosphoprotein

Additional terms

• Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7466
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7466
• OMIM: https://mirror.omim.org/entry/222300
• OMIM: https://mirror.omim.org/entry/600965
• OMIM: https://mirror.omim.org/entry/606201
• UniProt: http://www.uniprot.org/uniprot/O76024.html