Entrez gene ID | | 53827 |
Official gene symbol | | FXYD5 |
Full name | | FXYD domain containing ion transport regulator 5 |
Aliases | | ,DYSAD,HSPC113,IWU1,KCT1,OIT2,PRO6241,RIC, |
Gene summary | | This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] |
Location | | Chromosome: 19 Locus: 19q12-q13.1 |
Gene position | | 35645625 - 35660788 Map Viewer |
Gene orientation | | plus |
Gene size | | 15164 bp |
Gene sequence |
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OMIM ID | | 606669 |
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