| 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-s (By similarity). |
| Tissue Specificity: |
Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord. |
| Involvement in Disease: |
Combined oxidative phosphorylation deficiency 22: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
Mitochondrial complex V deficiency, nuclear 4: 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. |
| Sequence Similarities: |
Belongs to the ATPase alpha/beta chains family. |
| Post-Translational Modification: |
The N-terminus is blocked. |
| Cellular Location: |
Mitochondrion inner membrane. Cell membrane.
Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951). |
| Database Links: |
Entrez Gene: 498?HumanEntrez Gene: 11946?MouseEntrez Gene: 65262?RatOmim: 164360?HumanSwissProt: P25705?HumanSwissProt: Q03265?MouseSwissProt: P15999?RatUnigene: 298280?HumanUnigene: 276137?MouseUnigene: 474505?MouseUnigene: 40255?Rat |
| Synonyms: |
ATP synthase alpha chain, mitochondrial AntibodyATP synthase subunit alpha AntibodyATP synthase subunit alpha mitochondrial AntibodyATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle AntibodyATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, 1 AntibodyATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle AntibodyATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2 AntibodyATP sythase (F1 ATPase) alpha subunit AntibodyATP5A AntibodyAtp5a1 AntibodyATP5AL2 AntibodyATPA_HUMAN AntibodyATPM AntibodyEpididymis secretory sperm binding protein Li 123m AntibodyhATP1 AntibodyHEL-S-123m AntibodyMC5DN4 Antibodymitochondrial AntibodyMitochondrial ATP synthetase AntibodyMitochondrial ATP synthetase oligomycin resistant AntibodyModifier of Min 2 mouse homolog AntibodyModifier of Min 2, mouse, homolog of AntibodyMOM2 AntibodyOMR AntibodyORM AntibodyOTTHUMP00000163475 Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
