Homo sapiens Protein: ATP5A1
Summary
InnateDB Protein IDBP-2904.6
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 ENSP00000282050
InnateDB Gene IDBG-2902 (ATP5A1)
Protein Structure
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.
Experimentally validated
Total 98 [view]
Protein-Protein 98 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
GO:0016887 ATPase activity
GO:0022857 transmembrane transporter activity
GO:0042288 MHC class I protein binding
GO:0044822 poly(A) RNA binding
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0046961 proton-transporting ATPase activity, rotational mechanism
Biological Process
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006200 ATP catabolic process
GO:0006629 lipid metabolic process
GO:0006754 ATP biosynthetic process
GO:0009790 embryo development
GO:0015986 ATP synthesis coupled proton transport
GO:0015991 ATP hydrolysis coupled proton transport
GO:0015992 proton transport
GO:0022904 respiratory electron transport chain
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0046034 ATP metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0005886 plasma membrane
GO:0008180 COP9 signalosome
GO:0016020 membrane
GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain
GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1)
GO:0070062 extracellular vesicular exosome
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
PFAM PF00006
PF00306
PF02874
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_001001937
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