Homo sapiens Gene: ATP5A1
Summary
InnateDB Gene IDBG-2902.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP5A1
Gene 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 Gene ENSG00000152234
Encoded Proteins
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:46080248-46104334
Strand Reverse strand
Band q21.1
Transcripts
ENST00000282050 ENSP00000282050
ENST00000398752 ENSP00000381736
ENST00000590665 ENSP00000467037
ENST00000590324 ENSP00000465259
ENST00000591981 ENSP00000465805
ENST00000591267
ENST00000593152 ENSP00000465477
ENST00000590156 ENSP00000466309
ENST00000589869 ENSP00000465497
ENST00000586523
ENST00000590448
ENST00000588390
ENST00000592989 ENSP00000467830
ENST00000590406 ENSP00000468458
ENST00000589611
ENST00000592364 ENSP00000468618
ENST00000587902
ENST00000589252 ENSP00000466975
ENST00000586592 ENSP00000466275
ENST00000585650 ENSP00000467983
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
Formation of ATP by chemiosmotic coupling pathway
Metabolism of proteins pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
Mitochondrial protein import pathway
KEGG
Oxidative phosphorylation pathway
Alzheimer's disease pathway
Parkinson's disease pathway
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.298280 Hs.629138 Hs.707421
RefSeq NM_001001935 NM_001001937 NM_001257334 NM_001257335 NM_004046
HUGO
OMIM
CCDS CCDS11927 CCDS58620 CCDS59315
HPRD 01258
IMGT
EMBL
GenPept
RNA Seq Atlas