FXYD3

FXYD domain containing ion transport regulator 3
Identifiers
Symbols FXYD3; MAT8; MGC111076; PLML
External IDs OMIM604996 MGI107497 HomoloGene121956 GeneCards: FXYD3 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 5349 17178
Ensembl ENSG00000089356 ENSMUSG00000057092
UniProt Q14802 Q3TLM3
RefSeq (mRNA) NM_001136007.1 NM_008557
RefSeq (protein) NP_001129479.1 NP_032583
Location (UCSC) Chr 19:
35.61 – 35.62 Mb
Chr 7:
30.78 – 30.79 Mb
PubMed search [1] [2]

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.[1][2][3]

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. The protein encoded by this gene may function as a chloride channel or as a chloride channel regulator. Two transcript variants encode two different isoforms of the protein; in addition, transcripts utilizing alternative polyA signals have been described in the literature.[3]

References

  1. ^ Morrison BW, Moorman JR, Kowdley GC, Kobayashi YM, Jones LR, Leder P (Mar 1995). "Mat-8, a novel phospholemman-like protein expressed in human breast tumors, induces a chloride conductance in Xenopus oocytes". J Biol Chem 270 (5): 2176–82. doi:10.1074/jbc.270.5.2176. PMID 7836447. 
  2. ^ Sweadner KJ, Rael E (Sep 2000). "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression". Genomics 68 (1): 41–56. doi:10.1006/geno.2000.6274. PMID 10950925. 
  3. ^ a b "Entrez Gene: FXYD3 FXYD domain containing ion transport regulator 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5349. 

Further reading