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ATP synthase mitochondrial F1 complex assembly factor 2
Symbols ATPAF2 ; ATP12; ATP12p; MC5DN1
External IDs OMIM608918 MGI2180561 HomoloGene34602 GeneCards: ATPAF2 Gene
RNA expression pattern
PBB GE ATPAF2 213057 at tn.png
More reference expression data
Species Human Mouse
Entrez 91647 246782
Ensembl ENSG00000171953 ENSMUSG00000042709
UniProt Q8N5M1 Q91YY4
RefSeq (mRNA) NM_145691 NM_145427
RefSeq (protein) NP_663729 NP_663402
Location (UCSC) Chr 17:
17.98 – 18.04 Mb
Chr 11:
60.4 – 60.42 Mb
PubMed search [1] [2]

ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.[1][2][3] This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.[3]

Model organisms[edit]

Model organisms have been used in the study of ATPAF2 function. A conditional knockout mouse line, called Atpaf2tm1a(KOMP)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 six tests were carried out on mutant mice and three 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; males had abnormal vertebrae morphology.[7]


  1. ^ Wang ZG, White PS, Ackerman SH (Aug 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. PMID 11410595. 
  2. ^ Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse". Genome Res 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338. 
  3. ^ a b "Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2". 
  4. ^ "Radiography data for Atpaf2". Wellcome Trust Sanger Institute. 
  5. ^ "Salmonella infection data for Atpaf2". Wellcome Trust Sanger Institute. 
  6. ^ "Citrobacter infection data for Atpaf2". 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]