ATP synthase subunit a

Details

Name
ATP synthase subunit a
Synonyms
  • ATP6
  • ATPASE6
  • F-ATPase protein 6
  • MTATP6
Gene Name
MT-ATP6
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049741|ATP synthase subunit a
MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTM
HNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSK
IKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLA
MSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT
Number of residues
226
Molecular Weight
24816.865
Theoretical pI
Not Available
GO Classification
Functions
hydrogen ion transmembrane transporter activity / transmembrane transporter activity
Processes
aging / ATP biosynthetic process / mitochondrial ATP synthesis coupled proton transport / response to hyperoxia
Components
extracellular exosome / integral component of membrane / mitochondrial inner membrane / mitochondrial proton-transporting ATP synthase complex / proton-transporting ATP synthase complex, coupling factor F(o)
General Function
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
Specific Function
Hydrogen ion transmembrane transporter activity
Pfam Domain Function
Transmembrane Regions
6-26 68-88 97-117 138-158 164-184 189-209
Cellular Location
Mitochondrion inner membrane
Gene sequence
>lcl|BSEQ0049742|ATP synthase subunit a (MT-ATP6)
ATGAACGAAAATCTGTTCGCTTCATTCATTGCCCCCACAATCCTAGGCCTACCCGCCGCA
GTACTGATCATTCTATTTCCCCCTCTATTGATCCCCACCTCCAAATATCTCATCAACAAC
CGACTAATCACCACCCAACAATGACTAATCAAACTAACCTCAAAACAAATGATAACCATA
CACAACACTAAAGGACGAACCTGATCTCTTATACTAGTATCCTTAATCATTTTTATTGCC
ACAACTAACCTCCTCGGACTCCTGCCTCACTCATTTACACCAACCACCCAACTATCTATA
AACCTAGCCATGGCCATCCCCTTATGAGCGGGCACAGTGATTATAGGCTTTCGCTCTAAG
ATTAAAAATGCCCTAGCCCACTTCTTACCACAAGGCACACCTACACCCCTTATCCCCATA
CTAGTTATTATCGAAACCATCAGCCTACTCATTCAACCAATAGCCCTGGCCGTACGCCTA
ACCGCTAACATTACTGCAGGCCACCTACTCATGCACCTAATTGGAAGCGCCACCCTAGCA
ATATCAACCATTAACCTTCCCTCTACACTTATCATCTTCACAATTCTAATTCTACTGACT
ATCCTAGAAATCGCTGTCGCCTTAATCCAAGCCTACGTTTTCACACTTCTAGTAAGCCTC
TACCTGCACGACAACACATAA
Chromosome Location
Not Available
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDP00846
UniProtKB Entry NameATP6_HUMAN
HGNC IDHGNC:7414
General References
  1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. [PubMed:7219534]
  2. Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6. [PubMed:7530363]
  3. Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. [PubMed:11130070]
  4. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM: Major genomic mitochondrial lineages delineate early human expansions. BMC Genet. 2001;2:13. Epub 2001 Aug 13. [PubMed:11553319]
  5. Silva WA Jr, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixao BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paco-Larson ML, Petzl-Erler ML, Valente V, Santos SE, Zago MA: Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet. 2002 Jul;71(1):187-92. Epub 2002 May 17. [PubMed:12022039]
  6. Maca-Meyer N, Gonzalez AM, Pestano J, Flores C, Larruga JM, Cabrera VM: Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. BMC Genet. 2003 Oct 16;4:15. [PubMed:14563219]
  7. Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. [PubMed:12840039]
  8. Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. [PubMed:12949126]
  9. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC: Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):171-6. Epub 2002 Dec 30. [PubMed:12509511]
  10. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP: Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet. 2003 Sep;73(3):671-6. Epub 2003 Jul 17. [PubMed:12870132]
  11. Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogvali EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet. 2004 Nov;75(5):910-8. Epub 2004 Sep 20. [PubMed:15382008]
  12. Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP: Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet. 2004 Dec;75(6):966-78. Epub 2004 Oct 1. [PubMed:15467980]
  13. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. [PubMed:14760490]
  14. Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC: Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet. 2005 Jan;69(Pt 1):67-89. [PubMed:15638829]
  15. Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH: Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet A. 2007 Apr 15;143A(8):808-16. [PubMed:17352390]
  16. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  17. Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F: Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30. [PubMed:25037980]
  18. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [PubMed:25944712]
  19. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427-30. [PubMed:3201231]
  20. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428-33. [PubMed:2137962]
  21. Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. [PubMed:1757091]
  22. de Vries DD, van Engelen BG, Gabreels FJ, Ruitenbeek W, van Oost BA: A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol. 1993 Sep;34(3):410-2. [PubMed:8395787]
  23. Lamminen T, Majander A, Juvonen V, Wikstrom M, Aula P, Nikoskelainen E, Savontous ML: A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1995 May;56(5):1238-40. [PubMed:7726182]
  24. Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995 Sep;38(3):468-72. [PubMed:7668837]
  25. Campos Y, Martin MA, Rubio JC, Solana LG, Garcia-Benayas C, Terradas JL, Arenas J: Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology. 1997 Aug;49(2):595-7. [PubMed:9270604]
  26. Takahashi S, Makita Y, Oki J, Miyamoto A, Yanagawa J, Naito E, Goto Y, Okuno A: De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. Am J Hum Genet. 1998 Mar;62(3):717-9. [PubMed:9556461]
  27. Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis. 1998 Feb;21(1):2-8. [PubMed:9501263]
  28. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA: Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 1998 Feb 15;26(4):967-73. [PubMed:9461455]
  29. Rantamaki MT, Soini HK, Finnila SM, Majamaa K, Udd B: Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol. 2005 Aug;58(2):337-40. [PubMed:16049925]
  30. Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF: Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J Med Genet. 2007 Dec;44(12):797-9. [PubMed:18055910]
  31. Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ: Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009 May;46(5):308-14. doi: 10.1136/jmg.2008.063149. Epub 2009 Feb 2. [PubMed:19188198]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00783Estradiolapproved, investigational, vet_approvedunknownDetails
DB13952Estradiol acetateapproved, investigational, vet_approvedunknownDetails
DB13953Estradiol benzoateapproved, investigational, vet_approvedunknownDetails
DB13954Estradiol cypionateapproved, investigational, vet_approvedunknownDetails
DB13955Estradiol dienanthateapproved, investigational, vet_approvedunknownDetails
DB13956Estradiol valerateapproved, investigational, vet_approvedunknownDetails