ATP synthase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ATP5A1gene.
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the same protein have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on mutant mice and five significant abnormalities were observed. No homozygousmutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and decreased body weight, lean body mass and hypoproteinemia was observed in female animals.
Kovalyov LI, Shishkin SS, Efimochkin AS, et al. (1996). "The major protein expression profile and two-dimensional protein database of human heart.". Electrophoresis16 (7): 1160–9. doi:10.1002/elps.11501601192. PMID7498159.
Abrahams JP, Leslie AG, Lutter R, Walker JE (1994). "Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria.". Nature370 (6491): 621–8. doi:10.1038/370621a0. PMID8065448.
Akiyama S, Endo H, Inohara N, et al. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit.". Biochim. Biophys. Acta1219 (1): 129–40. doi:10.1016/0167-4781(94)90255-0. PMID8086450.
Jabs EW, Thomas PJ, Bernstein M, et al. (1994). "Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier.". Hum. Genet.93 (5): 600–2. PMID8168843.
Godbout R, Bisgrove DA, Honoré LH, Day RS (1993). "Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line.". Gene123 (2): 195–201. doi:10.1016/0378-1119(93)90124-L. PMID8428659.
Godbout R, Pandita A, Beatty B, et al. (1997). "Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12→q21.". Cytogenet. Cell Genet.77 (3-4): 253–6. doi:10.1159/000134588. PMID9284928.
Wang ZG, White PS, Ackerman SH (2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria.". J. Biol. Chem.276 (33): 30773–8. doi:10.1074/jbc.M104133200. PMID11410595.
Chang SY, Park SG, Kim S, Kang CY (2002). "Interaction of the C-terminal domain of p43 and the alpha subunit of ATP synthase. Its functional implication in endothelial cell proliferation.". J. Biol. Chem.277 (10): 8388–94. doi:10.1074/jbc.M108792200. PMID11741979.
Sergeant N, Wattez A, Galván-valencia M, et al. (2003). "Association of ATP synthase alpha-chain with neurofibrillary degeneration in Alzheimer's disease.". Neuroscience117 (2): 293–303. doi:10.1016/S0306-4522(02)00747-9. PMID12614671.
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. PMID14702039.
Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.". Nat. Cell Biol.6 (2): 97–105. doi:10.1038/ncb1086. PMID14743216.
Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.". Curr. Biol.14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID15324660.