Homo sapiens Protein: ATP5A1 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Protein | IDBP-232177.5 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | ATP5A1 | ||||||||||||||||||||||||||
Protein Name | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | ||||||||||||||||||||||||||
Synonyms | ATP5A; ATP5AL2; ATPM; hATP1; HEL-S-123m; MC5DN4; MOM2; OMR; ORM; | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Protein | ENSP00000381736 | ||||||||||||||||||||||||||
InnateDB Gene | IDBG-2902 (ATP5A1) | ||||||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||||||
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). {ECO:0000250}. | ||||||||||||||||||||||||||
Subcellular Localization | Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Colocalizes with HRG on the cell surface of T-cells. | ||||||||||||||||||||||||||
Disease Associations | Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM:615228]: 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. {ECO:0000269PubMed:23599390}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||
Tissue Specificity | Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord. {ECO:0000269PubMed:8428659}. | ||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 98 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||
InterPro |
IPR000194
ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain IPR000793 ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal IPR004100 ATPase, F1 complex alpha/beta subunit, N-terminal domain IPR005294 ATPase, F1 complex, alpha subunit IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00006
PF00306 PF02874 |
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PRINTS | |||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||
SMART | |||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | P25705 | ||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P25705 | ||||||||||||||||||||||||||
TrEMBL | V9HW26 | ||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 498 | ||||||||||||||||||||||||||
UniGene | Hs.707421 | ||||||||||||||||||||||||||
RefSeq | NP_004037 | ||||||||||||||||||||||||||
HUGO | HGNC:823 | ||||||||||||||||||||||||||
OMIM | 164360 | ||||||||||||||||||||||||||
CCDS | CCDS11927 | ||||||||||||||||||||||||||
HPRD | 01258 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AC012569 AK092735 AK289457 AK294804 AK302272 BC003119 BC007299 BC008028 BC011384 BC016046 BC019310 BC039135 BC064562 BC067385 BT007209 CH471088 D14710 D28126 FJ224309 X59066 X65460 | ||||||||||||||||||||||||||
GenPept | AAH03119 AAH07299 AAH08028 AAH11384 AAH16046 AAH19310 AAH39135 AAH64562 AAH67385 AAP35873 ACI46001 BAA03531 BAA05672 BAF82146 BAG52604 BAG57924 BAG63618 CAA41789 CAA46452 EAX01471 | ||||||||||||||||||||||||||