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This article is an orphan, as few or no other articles link to it. Please introduce links to this page from related articles; suggestions may be available. (February 2009) edit FXYD domain containing ion transport regulator 3 Identifiers Symbols FXYD3; MAT8; MGC111076; PLML External IDs OMIM: 604996 MGI: 107497 HomoloGene: 121956 GeneCards: FXYD3 Gene Gene Ontology Molecular function • ion channel activity • chloride channel activity • ATPase binding Cellular component • endoplasmic reticulum membrane • microsome • integral to plasma membrane • membrane • chloride channel complex Biological process • ion transport • chloride transport • regulation of catalytic activity Sources: Amigo / QuickGO 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 ^ 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.  ^ 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.  ^ 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 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. 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. PMC 2917601. PMID 12535606.  Grzmil M, Voigt S, Thelen P, et al. (2004). "Up-regulated expression of the MAT-8 gene in prostate cancer and its siRNA-mediated inhibition of expression induces a decrease in proliferation of human prostate carcinoma cells". Int. J. Oncol. 24 (1): 97–105. PMID 14654946.  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.  Kayed H, Kleeff J, Kolb A, et al. (2005). "FXYD3 is overexpressed in pancreatic ductal adenocarcinoma and influences pancreatic cancer cell growth". Int. J. Cancer 118 (1): 43–54. doi:10.1002/ijc.21257. PMID 16003754.  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.  Bibert S, Roy S, Schaer D, et al. (2007). "Structural and functional properties of two human FXYD3 (Mat-8) isoforms". J. Biol. Chem. 281 (51): 39142–51. doi:10.1074/jbc.M605221200. PMID 17077088.  Arimochi J, Ohashi-Kobayashi A, Maeda M (2007). "Interaction of Mat-8 (FXYD-3) with Na+/K+-ATPase in colorectal cancer cells". Biol. Pharm. Bull. 30 (4): 648–54. doi:10.1248/bpb.30.648. PMID 17409496.  This article on a gene on chromosome 19 is a stub. You can help Wikipedia by expanding it.v · d · e