ATPAF2

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

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)[1] Band 17p11.2 Start 17,977,409 bp[1] End 18,039,209 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B2 Start 60,291,452 bp[2] End 60,309,283 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 91647 246782 Ensembl ENSG00000171953 ENSMUSG00000042709 UniProt Q8N5M1 Q91YY4 RefSeq (mRNA) NM_145691 NM_145427 NM_001364117 NM_001364118 RefSeq (protein) NP_663729 NP_663402 NP_001351046 NP_001351047 Location (UCSC) Chr 17: 17.98 – 18.04 Mb Chr 11: 60.29 – 60.31 Mb PubMed search [3] [4]
Wikidata
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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]

Structure

The ATPAF2 gene is located on the p arm of chromosome 17 in position 11.2 and spans 24,110 base pairs.^[7] The gene produces a 32.8 kDa protein composed of 289 amino acids.^[10][11] This gene has at least 8 exons and is located within the Smith-Magenis syndrome region on chromosome 17.^[7]

Function

The ATPAF2 gene encodes an essential housekeeping protein, an assembly factor for the F1 component of 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.^[5][7]

Clinical significance

In the only report of a mutation in the ATPAF2 gene, the resulting phenotype was nuclear type 1 Complex V deficiency inherited in an autosomal recessive manner. A homozygous 280T-A transversion caused a W94R amino acid substitution adjacent to a highly conserved glutamine. Symptoms included elevated blood, CSF, and urine lactate levels, developmental delays with failure to thrive and seizures, and a degenerative encephalopathy with cortical and subcortical atrophy.^[8][9]

Interactions

The encoded protein interacts with ATP5F1A and FMC1, along with many other proteins.^[5][12][13]