ATPAF2

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. [provided by RefSeq, Jul 2008]

Description

ATP synthase mitochondrial F1 complex assembly factor 2

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (17977409 - 18039209)

Ensembl ID

ENSG00000171953  (ver. 103.38)

Orthologs

Mouse Atpaf2: ENSMUSG00000042709

UniProt

Q8N5M1

neXtProt

NX_Q8N5M1

Human splice variants
Mouse splice variants

Protein structure