ATPAF2

From Wikipedia, the free encyclopedia

ATP synthase mitochondrial F1 complex assembly factor 2

Identifiers

ATPAF2; ATP12; ATP12p; LP3663; MGC29736

External IDs

OMIM: 608918 MGI: 2180561 HomoloGene: 34602

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• mitochondrion
Biological Process:	• protein folding • F-type ATPase complex assembly

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_145691 (mRNA)
NP_663729 (protein)

NM_145427 (mRNA)
NP_663402 (protein)

Location

Chr 17: 17.86 - 17.88 Mb

Chr 11: 60.22 - 60.23 Mb

Pubmed search

[1]

[2]

ATP synthase mitochondrial F1 complex assembly factor 2, also known as ATPAF2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2.

[edit] Further reading

Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
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. PMID 11410595.
Bi W, Yan J, Stankiewicz P, et al. (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. PMID 11997338.
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. PMID 12477932.
De Meirleir L, Seneca S, Lissens W, et al. (2004). "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.". J. Med. Genet. 41 (2): 120–4. PMID 14757859.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.