InnateDB Protein
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IDBP-239105.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATP5E
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Protein Name
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ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
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Synonyms
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ATPE; MC5DN3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379019
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InnateDB Gene
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IDBG-83346 (ATP5E)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion. Mitochondrion inner membrane.
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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.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0016887
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ATPase activity
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GO:0022857
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transmembrane transporter activity
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GO:0046933
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proton-transporting ATP synthase activity, rotational mechanism
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GO:0046961
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proton-transporting ATPase activity, rotational mechanism
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Biological Process |
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Cellular Component |
GO:0000275
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mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
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GO:0005753
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mitochondrial proton-transporting ATP synthase complex
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GO:0005759
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mitochondrial matrix
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PDB ID |
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InterPro |
IPR006721
ATPase, F1 complex, epsilon subunit, mitochondrial
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PFAM |
PF04627
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P56381
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PhosphoSite |
PhosphoSite-P56381
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
514
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UniGene |
Hs.718571
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RefSeq |
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HUGO |
HGNC:838
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OMIM |
606153
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CCDS |
CCDS13476
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HPRD |
05856
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IMGT |
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EMBL |
AF052955
AF077045
AK315493
AL109840
BC001690
BC003671
BC105811
BT007293
CH471077
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GenPept |
AAD27778
AAF72736
AAH01690
AAH03671
AAI05812
AAP35957
BAG37877
CAC09372
EAW75445
EAW75446
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