ATPAF1

ATPAF1
Identifiers
Aliases	ATPAF1, ATP11, ATP11p, ATP synthase mitochondrial F1 complex assembly factor 1
External IDs	OMIM: 608917; MGI: 2180560; HomoloGene: 41492; GeneCards: ATPAF1; OMA:ATPAF1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	46,673,867 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	115,679,852 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; cardiac muscle tissue of right atrium; ; vastus lateralis muscle; ; right adrenal cortex; ; right ventricle; ; apex of heart; ; right auricle; ; gastrocnemius muscle; ; muscle of thigh; ; caudate nucleus;
	Top expressed in
	facial motor nucleus; ; muscle of thigh; ; anterior horn of spinal cord; ; right kidney; ; medial geniculate nucleus; ; substantia nigra; ; spermatid; ; superior frontal gyrus; ; tail of embryo; ; lateral geniculate nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrion;
Biological process	mitochondrial proton-transporting ATP synthase complex assembly; protein-containing complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	64756
	230649
	ENSG00000123472
	ENSMUSG00000028710
	Q5TC12
	Q811I0
	NM_022745; NM_001042546; NM_001243728; NM_001256418; NM_001394565
	NM_181040; NM_001369233
	NP_001036011; NP_001230657; NP_001243347; NP_073582
	NP_001356162; NP_851383
	Wikidata
View/Edit Human	View/Edit Mouse

ATP synthase mitochondrial F1 complex assembly factor 1, also known as ATP11 homolog, is a protein that in humans is encoded by the ATPAF1 gene.^[5]^[6]

Function

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified, but the biological validity of some of these variants has not been determined.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000123472 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028710 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: ATP synthase mitochondrial F1 complex assembly factor 1".
^ Wang ZG, White PS, Ackerman SH (August 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.

External links

Human ATPAF1 genome location and ATPAF1 gene details page in the UCSC Genome Browser.

Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ackerman SH (2002). "Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria". Biochim. Biophys. Acta. 1555 (1–3): 101–5. doi:10.1016/S0005-2728(02)00262-1. PMID 12206899.
Picková A, Paul J, Petruzzella V, Houstek J (2003). "Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues". FEBS Lett. 551 (1–3): 42–6. doi:10.1016/S0014-5793(03)00890-1. PMID 12965202.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000123472 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028710 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ATP synthase mitochondrial F1 complex assembly factor 1".

[pmid11410595-6] Wang ZG, White PS, Ackerman SH (August 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.

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Function

References

External links

Further reading