ATP synthase, H+ transporting, mitochondrial F1 complex, alpha 1

From Wikipedia, the free encyclopedia
  (Redirected from ATP5A1)
Jump to: navigation, search
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Protein ATP5A1 PDB 1bmf.png
PDB rendering based on 1bmf.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols ATP5A1 ; ATP5A; ATP5AL2; ATPM; HEL-S-123m; MC5DN4; MOM2; OMR; ORM; hATP1
External IDs OMIM164360 MGI88115 HomoloGene2985 IUPHAR: 796 GeneCards: ATP5A1 Gene
Species Human Mouse
Entrez 498 11946
Ensembl ENSG00000152234 ENSMUSG00000025428
UniProt P25705 Q03265
RefSeq (mRNA) NM_001001935 NM_007505
RefSeq (protein) NP_001001935 NP_031531
Location (UCSC) Chr 18:
43.66 – 43.68 Mb
Chr 18:
77.77 – 77.78 Mb
PubMed search [1] [2]

ATP synthase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ATP5A1 gene.[1][2]

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.[2]

Model organisms[edit]

Model organisms have been used in the study of ATP5A1 function. A conditional knockout mouse line, called Atp5a1tm1a(EUCOMM)Wtsi[9][10] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty two tests were carried out on mutant mice and five significant abnormalities were observed.[7] No homozygous mutant 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.[7]


  1. ^ Kataoka H, Biswas C (Sep 1991). "Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase". Biochim Biophys Acta 1089 (3): 393–5. doi:10.1016/0167-4781(91)90183-m. PMID 1830491. 
  2. ^ a b "Entrez Gene: ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle". 
  3. ^ "Body weight data for Atp5a1". Wellcome Trust Sanger Institute. 
  4. ^ "DEXA data for Atp5a1". Wellcome Trust Sanger Institute. 
  5. ^ "Clinical chemistry data for Atp5a1". Wellcome Trust Sanger Institute. 
  6. ^ "Citrobacter infection data for Atp5a1". Wellcome Trust Sanger Institute. 
  7. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  8. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ^ "International Knockout Mouse Consortium". 
  10. ^ "Mouse Genome Informatics". 
  11. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  12. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  13. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  14. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]