ATP1A3
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ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[1][2]
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.[2]
Mutations in ATP1A3 are often seen in rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.
Research in 2009 with mice carrying a similar gene proved that mutations in this gene can be the cause of epilepsy. By manipulating genetically the offspring of such mice, researchers could correct for the mutated ATP1A3 gene, avoiding epilepsy in these offspring mice[3].
References
- ^ Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain 130 (Pt 3): 828–35. doi:10.1093/brain/awl340. PMID 17282997.
- ^ a b "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=478.
- ^ "Mutation I810N in the α3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS". http://www.pnas.org/content/early/2009/07/30/0904817106. Retrieved 4-Aug-2009.
External links
Further reading
- Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase". Prog. Nucleic Acid Res. Mol. Biol.. Progress in Nucleic Acid Research and Molecular Biology 38: 37–89. doi:10.1016/S0079-6603(08)60708-4. ISBN 978-0-12-540038-1. PMID 2158121.
- Sverdlov ED, Monastyrskaia GS, Broude NE et al (1988). "The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII [The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII]". Doklady Akademii Nauk SSSR 297 (6): 1488–94. PMID 2834163.
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE et al (1988). "Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein". FEBS Lett. 233 (1): 87–94. doi:10.1016/0014-5793(88)81361-9. PMID 2838329.
- Yang-Feng TL, Schneider JW, Lindgren V et al (1988). "Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes". Genomics 2 (2): 128–38. doi:10.1016/0888-7543(88)90094-8. PMID 2842249.
- Sverdlov ED, Broude NE, Sverdlov VE et al (1987). "Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism". FEBS Lett. 221 (1): 129–33. doi:10.1016/0014-5793(87)80366-6. PMID 2887455.
- Harley HG, Brook JD, Jackson CL et al (1989). "Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus". Genomics 3 (4): 380–4. doi:10.1016/0888-7543(88)90131-0. PMID 2907504.
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE et al (1987). "The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit". FEBS Lett. 213 (1): 73–80. doi:10.1016/0014-5793(87)81467-9. PMID 3030810.
- Shull MM, Lingrel JB (1987). "Multiple genes encode the human Na+,K+-ATPase catalytic subunit". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4039–43. doi:10.1073/pnas.84.12.4039. PMC 305017. PMID 3035563. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=305017.
- Sverdlov ED, Monastyrskaya GS, Broude NE et al (1987). "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit". FEBS Lett. 217 (2): 275–8. doi:10.1016/0014-5793(87)80677-4. PMID 3036582.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Kramer PL, Mineta M, Klein C et al (1999). "Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13". Ann. Neurol. 46 (2): 176–82. doi:10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2. PMID 10443882.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Esplin MS, Fausett MB, Faux DS, Graves SW (2003). "Changes in the isoforms of the sodium pump in the placenta and myometrium of women in labor". Am. J. Obstet. Gynecol. 188 (3): 759–64. doi:10.1067/mob.2003.166. PMID 12634653.
- Ota T, Suzuki Y, Nishikawa T et al (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- de Carvalho Aguiar P (2004). "Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism". Neuron 43 (2): 169–75. doi:10.1016/j.neuron.2004.06.028. PMID 15260953.
- Benfante R, Antonini RA, Vaccari M et al (2005). "The expression of the human neuronal α3 Na+,K+-ATPase subunit gene is regulated by the activity of the Sp1 and NF-Y transcription factors". Biochem. J. 386 (Pt 1): 63–72. doi:10.1042/BJ20041294. PMC 1134767. PMID 15462673. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1134767.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Lim J, Hao T, Shaw C et al (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
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