ATP5F1A

Function

Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159).

Involvement in disease

Combined oxidative phosphorylation deficiency 22

COXPD22

A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.

None

The disease is caused by variants affecting the gene represented in this entry.

Mitochondrial complex V deficiency, nuclear type 4

MC5DN4

A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

The N-terminus is blocked.

Acetylated on lysine residues. BLOC1S1 is required for acetylation.

Sequence similarities

Belongs to the ATPase alpha/beta chains family.

Tissue specificity

Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.

Cellular localization

• Mitochondrion
• Mitochondrion inner membrane
• Peripheral membrane protein
• Matrix side
• Cell membrane
• Peripheral membrane protein
• Extracellular side
• Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951).

Alternative names

• ATP synthase F1 subunit alpha
• ATP5A
• ATP5F1A
• ATP5A1
• ATP5AL2
• ATPM

Database links

• entrezGene:498
• omim:164360
• swissprot:P25705

Target type

Proteins

Molecular weight

59751Da