ATPAF2

ATPAF2
Identifiers
Aliases	ATPAF2, ATP12, ATP12p, MC5DN1, LP3663, ATP synthase mitochondrial F1 complex assembly factor 2
External IDs	OMIM: 608918; MGI: 2180561; HomoloGene: 34602; GeneCards: ATPAF2; OMA:ATPAF2 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	18,039,209 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	60,309,283 bp
RNA expression pattern
	Top expressed in
	right testis; ; left testis; ; muscle of thigh; ; granulocyte; ; apex of heart; ; monocyte; ; right adrenal gland; ; mucosa of transverse colon; ; right lobe of liver; ; right adrenal cortex;
	Top expressed in
	yolk sac; ; brown adipose tissue; ; interventricular septum; ; spermatid; ; spermatocyte; ; seminiferous tubule; ; right kidney; ; muscle of thigh; ; thymus; ; neural layer of retina;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrion; nuclear speck; cytosol;
Biological process	proton-transporting ATP synthase complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	91647
	246782
	ENSG00000171953
	ENSMUSG00000042709
	Q8N5M1
	Q91YY4
	NM_145691
	NM_145427; NM_001364117; NM_001364118
	NP_663729
	NP_663402; NP_001351046; NP_001351047
	Wikidata
View/Edit Human	View/Edit Mouse

ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.^[5]^[6]^[7]

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 the 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.^[7] A mutation in this gene has caused nuclear type 1 Complex V deficiency, characterized by lactic acidosis, encephalopathy, and developmental delays.^[8]^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171953 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042709 – 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.
^ Wang ZG, White PS, Ackerman SH (August 2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". The Journal of Biological Chemistry. 276 (33): 30773–30778. doi:10.1074/jbc.M104133200. PMID 11410595.
^ 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 Research. 12 (5): 713–728. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
^ ^a ^b "Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2". This article incorporates text from this source, which is in the public domain.
^ De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R (February 2004). "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12". Journal of Medical Genetics. 41 (2): 120–124. doi:10.1136/jmg.2003.012047. PMC 1735674. PMID 14757859.
^ Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {608918}: {2017-08-17}: . World Wide Web URL: https://omim.org/

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171953 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042709 – 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.

[pmid11410595-5] Wang ZG, White PS, Ackerman SH (August 2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". The Journal of Biological Chemistry. 276 (33): 30773–30778. doi:10.1074/jbc.M104133200. PMID 11410595.

[pmid11997338-6] 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 Research. 12 (5): 713–728. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.

[entrez-7] "Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2". This article incorporates text from this source, which is in the public domain.

[:0-8] De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R (February 2004). "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12". Journal of Medical Genetics. 41 (2): 120–124. doi:10.1136/jmg.2003.012047. PMC 1735674. PMID 14757859.

[:1-9] Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {608918}: {2017-08-17}: . World Wide Web URL: https://omim.org/

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