1. Gene
  2. FXYD5 - FXYD domain containing ion transport regulator 5 Gene

FXYD5 - FXYD domain containing ion transport regulator 5 Gene

Homo sapiens

Also known as RIC; IWU1; KCT1; OIT2; DYSAD; HSPC113; PRO6241

Gene ID: 53827 | Gene type: protein coding

About FXYD5

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,154,735-35,169,881 (from NCBI)

This gene has 13 transcripts (splice variants), 30 orthologues and 6 paralogues. Broad expression in spleen (RPKM 43.4), bone marrow (RPKM 43.0) and 24 other tissues.

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., [email protected]., Sep 2009]

FXYD5 Products(5)

mRNA Protein Name
NM_001164605.2 NP_001158077.1 FXYD domain-containing ion transport regulator 5 isoform 1 precursor
NM_001320912.2 NP_001307841.1 FXYD domain-containing ion transport regulator 5 isoform 2 precursor
NM_001320913.2 NP_001307842.1 FXYD domain-containing ion transport regulator 5 isoform 3 precursor
NM_014164.6 NP_054883.3 FXYD domain-containing ion transport regulator 5 isoform 1 precursor
NM_144779.3 NP_659003.1 FXYD domain-containing ion transport regulator 5 isoform 1 precursor

FXYD5 Protein Structure

ATP1G1_PLM_MAT8

ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (130 - 167)

  • 0
  • 100
  • 178 a.a.
Protein Preferred Names Protein Names

FXYD domain-containing ion transport regulator 5

dysadherin

Related Diseases

Diseases Alias
Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor

Craniopharyngioma, Adamantinomatous

Adamantinomatous Craniopharyngioma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus FXYD5 VGNC VGNC:29158
Macaca mulatta FXYD5 VGNC VGNC:82147
Canis familiaris FXYD5 VGNC VGNC:41023
Rattus norvegicus FXYD5 RGD RGD:620827
Mus musculus FXYD5 MGD MGI:1201785