ATP1A2
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ATP1A2
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 gene.[1]
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Contents
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Function
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 2 subunit.[1]
Clinical significance
Mutations in the ATP1A2 gene has been implicated in the familial form of alternating hemiplegia of childhood.[2][3][4]
References
- ^ a b "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=477.
- ^ Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (December 2003). "Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait". Dev Med Child Neurol 45 (12): 833–6. doi:10.1017/S0012162203001543. PMID 14667076. http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0012-1622&date=2003&volume=45&issue=12&spage=833.
- ^ Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Ann. Neurol. 55 (6): 884–7. doi:10.1002/ana.20134. PMID 15174025.
- ^ Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". J. Med. Genet. 41 (8): 621–8. doi:10.1136/jmg.2003.017863. PMC 1735877. PMID 15286158. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735877.
Further reading
- Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase.". Prog. Nucleic Acid Res. Mol. Biol. 38: 37–89. doi:10.1016/S0079-6603(08)60708-4. PMID 2158121.
- Dunbar LA, Caplan MJ (2001). "Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases.". J. Biol. Chem. 276 (32): 29617–20. doi:10.1074/jbc.R100023200. PMID 11404365.
- Shull MM, Pugh DG, Lingrel JB (1989). "Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.". J. Biol. Chem. 264 (29): 17532–43. PMID 2477373.
- Sverdlov ED, Bessarab DA, Malyshev IV, et al. (1989). "Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene.". FEBS Lett. 244 (2): 481–3. doi:10.1016/0014-5793(89)80588-5. PMID 2537767.
- 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.
- 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.
- Zahler R, Gilmore-Hebert M, Baldwin JC, et al. (1993). "Expression of alpha isoforms of the Na,K-ATPase in human heart.". Biochim. Biophys. Acta 1149 (2): 189–94. doi:10.1016/0005-2736(93)90200-J. PMID 8391840.
- Stengelin MK, Hoffman JF (1997). "Na,K-ATPase subunit isoforms in human reticulocytes: evidence from reverse transcription-PCR for the presence of alpha1, alpha3, beta2, beta3, and gamma.". Proc. Natl. Acad. Sci. U.S.A. 94 (11): 5943–8. doi:10.1073/pnas.94.11.5943. PMC 20886. PMID 9159180. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=20886.
- 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.
- Ducros A, Joutel A, Vahedi K, et al. (1998). "Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity.". Ann. Neurol. 42 (6): 885–90. doi:10.1002/ana.410420610. PMID 9403481.
- Terwindt GM, Ophoff RA, Lindhout D, et al. (1998). "Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.". Epilepsia 38 (8): 915–21. doi:10.1111/j.1528-1157.1997.tb01257.x. PMID 9579893.
- Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
- Katzmarzyk PT, Rankinen T, Pérusse L, et al. (1999). "Linkage and association of the sodium potassium-adenosine triphosphatase alpha2 and beta1 genes with respiratory quotient and resting metabolic rate in the Québec Family Study.". J. Clin. Endocrinol. Metab. 84 (6): 2093–7. doi:10.1210/jc.84.6.2093. PMID 10372716.
- Rankinen T, Pérusse L, Borecki I, et al. (2000). "The Na(+)-K(+)-ATPase alpha2 gene and trainability of cardiorespiratory endurance: the HERITAGE family study.". J. Appl. Physiol. 88 (1): 346–51. PMID 10642400.
- 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.
- Ukkola O, Joanisse DR, Tremblay A, Bouchard C (2003). "Na+-K+-ATPase alpha 2-gene and skeletal muscle characteristics in response to long-term overfeeding.". J. Appl. Physiol. 94 (5): 1870–4. doi:10.1152/japplphysiol.00942.2002. PMID 12496141.
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