Biology:FXYD1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Phospholemman (PLM) is a protein that in humans is encoded by the FXYD1 gene.

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 is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature.

Further reading

• "Protein kinase C and cyclic AMP-dependent protein kinase phosphorylate phospholemman, an insulin and adrenaline-regulated membrane phosphoprotein, at specific sites in the carboxy terminal domain.". Biochem. J. 304 (2): 635–40. 1995. doi:10.1042/bj3040635. PMID 7999001. 
• "Pharmacological characterization of protein phosphatase activities in preparations from failing human hearts.". J. Pharmacol. Exp. Ther. 289 (1): 188–93. 1999. PMID 10087003. 
• "Phospholemman is a substrate for myotonic dystrophy protein kinase.". J. Biol. Chem. 275 (30): 23362–7. 2000. doi:10.1074/jbc.M000899200. PMID 10811636. 
• "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression.". Genomics 68 (1): 41–56. 2001. doi:10.1006/geno.2000.6274. PMID 10950925. 
• "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers.". Biochim. Biophys. Acta 1645 (1): 15–21. 2003. doi:10.1016/S1570-9639(02)00473-9. PMID 12535606. 
• "Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase.". FASEB J. 18 (1): 197–9. 2004. doi:10.1096/fj.03-0213fje. PMID 14597563. http://www.fasebj.org/content/18/1/197.full. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R. 
• "Correlation of gene and protein structures in the FXYD family proteins.". J. Mol. Biol. 354 (4): 743–50. 2006. doi:10.1016/j.jmb.2005.10.018. PMID 16288923. 
• "Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger.". J. Biol. Chem. 281 (42): 32004–14. 2006. doi:10.1074/jbc.M606876200. PMID 16921169. 
• "FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.". Hum. Mol. Genet. 16 (6): 640–50. 2007. doi:10.1093/hmg/ddm007. PMID 17309881.