FXYD1

FXYD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JO1
Identifiers
Aliases	FXYD1 , PLM, FXYD domain containing ion transport regulator 1
External IDs	OMIM: 602359 MGI: 1889273 HomoloGene: 3691 GeneCards: FXYD1
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.12 Start 35,138,824 bp [1] End 35,143,109 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B1 Start 30,751,103 bp [2] End 30,756,624 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve gastrocnemius muscle skeletal muscle tissue right coronary artery left ventricle putamen popliteal artery caudate nucleus right lobe of liver nucleus accumbens Top expressed in ankle triceps brachii muscle temporal muscle right ventricle digastric muscle interventricular septum sternocleidomastoid muscle soleus muscle plantaris muscle extensor digitorum longus muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium channel regulator activity transmembrane transporter binding ion channel activity chloride channel activity ion channel regulator activity Cellular component integral component of membrane membrane integral component of plasma membrane sodium:potassium-exchanging ATPase complex sarcolemma T-tubule intercalated disc plasma membrane caveola apical plasma membrane Biological process muscle contraction regulation of heart contraction positive regulation of sodium ion export across plasma membrane ion transport regulation of sodium ion transmembrane transporter activity regulation of cardiac muscle cell membrane potential chloride transmembrane transport negative regulation of protein glutathionylation potassium ion transport sodium ion transport chloride transport ion transmembrane transport regulation of ion transport regulation of cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5348 56188 Ensembl ENSG00000266964 ENSMUSG00000036570 UniProt O00168 Q9Z239 RefSeq (mRNA) NM_021902 NM_001278717 NM_001278718 NM_005031 NM_019503 NM_052991 NM_052992 NM_194321 RefSeq (protein) NP_001265646 NP_001265647 NP_005022 NP_068702 NP_062376 NP_443717 NP_443718 NP_919302 Location (UCSC) Chr 19: 35.14 – 35.14 Mb Chr 7: 30.75 – 30.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phospholemman (PLM) is a protein that in humans is encoded by the FXYD1 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000266964 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036570 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Chen LS, Lo CF, Numann R, Cuddy M (Jul 1997). "Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1". Genomics. 41 (3): 435–43. doi:10.1006/geno.1997.4665. PMID   9169143.
6. "Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)".

Further reading

• Walaas SI, Czernik AJ, Olstad OK, et al. (1995). "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. doi:10.1042/bj3040635. PMC   1137538 . PMID   7999001.
• Neumann J, Maas R, Bokník P, et al. (1999). "Pharmacological characterization of protein phosphatase activities in preparations from failing human hearts". J. Pharmacol. Exp. Ther. 289 (1): 188–93. PMID   10087003.
• Mounsey JP, John JE, Helmke SM, et al. (2000). "Phospholemman is a substrate for myotonic dystrophy protein kinase". J. Biol. Chem. 275 (30): 23362–7. doi: 10.1074/jbc.M000899200 . PMID   10811636.
• Sweadner KJ, Rael E (2001). "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.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Crowell KJ, Franzin CM, Koltay A, et al. (2003). "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. doi:10.1016/S1570-9639(02)00473-9. PMC   2917601 . PMID   12535606.
• Fuller W, Eaton P, Bell JR, Shattock MJ (2004). "Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase". FASEB J. 18 (1): 197–9. doi: 10.1096/fj.03-0213fje . PMID   14597563. S2CID   41768501.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Franzin CM, Yu J, Thai K, et al. (2006). "Correlation of gene and protein structures in the FXYD family proteins". J. Mol. Biol. 354 (4): 743–50. doi:10.1016/j.jmb.2005.10.018. PMC   2907130 . PMID   16288923.
• Wang J, Zhang XQ, Ahlers BA, et al. (2006). "Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger". J. Biol. Chem. 281 (42): 32004–14. doi: 10.1074/jbc.M606876200 . PMC   1613256 . PMID   16921169.
• Deng V, Matagne V, Banine F, et al. (2007). "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. doi: 10.1093/hmg/ddm007 . PMID   17309881.