Homo sapiens Protein: ATP5E
Summary
InnateDB Protein IDBP-239103.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP5E
Protein Name ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
Synonyms ATPE; MC5DN3;
Species Homo sapiens
Ensembl Protein ENSP00000379023
InnateDB Gene IDBG-83346 (ATP5E)
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. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. 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 (By similarity). {ECO:0000250}.
Subcellular Localization Mitochondrion. Mitochondrion inner membrane.
Disease Associations Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM:614053]: 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:20566710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016887 ATPase activity
GO:0022857 transmembrane transporter activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0046961 proton-transporting ATPase activity, rotational mechanism
Biological Process
GO:0006200 ATP catabolic process
GO:0015986 ATP synthesis coupled 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
Cellular Component
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR006721 ATPase, F1 complex, epsilon subunit, mitochondrial
PFAM PF04627
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P56381
PhosphoSite PhosphoSite-P56381
TrEMBL
UniProt Splice Variant
Entrez Gene 514
UniGene Hs.718571
RefSeq
HUGO HGNC:838
OMIM 606153
CCDS CCDS13476
HPRD 05856
IMGT
EMBL AF052955 AF077045 AK315493 AL109840 BC001690 BC003671 BC105811 BT007293 CH471077
GenPept AAD27778 AAF72736 AAH01690 AAH03671 AAI05812 AAP35957 BAG37877 CAC09372 EAW75445 EAW75446