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 4A
MC5DN4A
An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity.
None
The disease is caused by variants affecting the gene represented in this entry.
Mitochondrial complex V deficiency, nuclear type 4B
MC5DN4B
An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions.
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
ATP5A, ATP5A1, ATP5AL2, ATPM, ATP5F1A, ATP synthase F1 subunit alpha