ATPAF1
Identifiers
Aliases	ATPAF1, ATP11, ATP11p, ATP synthase mitochondrial F1 complex assembly factor 1
External IDs	OMIM: 608917 MGI: 2180560 HomoloGene: 41492 GeneCards: ATPAF1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p33 Start 46,632,737 bp[1] End 46,673,867 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1 Start 115,642,009 bp[2] End 115,679,852 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vastus lateralis muscle right ventricle gastrocnemius muscle caudate nucleus sperm prefrontal cortex nucleus accumbens putamen left adrenal gland deltoid muscle Top expressed in facial motor nucleus anterior horn of spinal cord medial geniculate nucleus substantia nigra spermatid superior frontal gyrus lateral geniculate nucleus vastus lateralis muscle pontine nuclei triceps brachii muscle More reference expression data BioGPS 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 Species Human Mouse Entrez 64756 230649 Ensembl ENSG00000123472 ENSMUSG00000028710 UniProt Q5TC12 Q811I0 RefSeq (mRNA) NM_022745 NM_001042546 NM_001243728 NM_001256418 NM_001394565 NM_181040 NM_001369233 RefSeq (protein) NP_001036011 NP_001230657 NP_001243347 NP_073582 NP_001356162 NP_851383 Location (UCSC) Chr 1: 46.63 – 46.67 Mb Chr 4: 115.64 – 115.68 Mb PubMed search [3] [4]
Wikidata
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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]