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HUMAN:ATP5E
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | ATP5E | |
Protein Name(s) | ATP synthase subunit epsilon, mitochondrial
ATPase subunit epsilon | |
External Links | ||
UniProt | P56381 | |
EMBL | AF052955 AF077045 AK315493 BT007293 AL109840 CH471077 CH471077 BC001690 BC003671 BC105811 | |
CCDS | CCDS13476.1 | |
RefSeq | NP_008817.1 | |
UniGene | Hs.177530 | |
ProteinModelPortal | P56381 | |
SMR | P56381 | |
BioGrid | 106999 | |
IntAct | P56381 | |
MINT | MINT-3021407 | |
STRING | 9606.ENSP00000243997 | |
PhosphoSite | P56381 | |
MaxQB | P56381 | |
PaxDb | P56381 | |
PRIDE | P56381 | |
DNASU | 514 | |
Ensembl | ENST00000243997 ENST00000395659 ENST00000395663 | |
GeneID | 514 | |
KEGG | hsa:514 | |
UCSC | uc002yal.3 | |
CTD | 514 | |
GeneCards | GC20M057600 | |
HGNC | HGNC:838 | |
HPA | HPA042142 | |
MIM | 606153 614053 | |
neXtProt | NX_P56381 | |
Orphanet | 254913 | |
PharmGKB | PA25128 | |
eggNOG | NOG318665 | |
GeneTree | ENSGT00390000015470 | |
HOGENOM | HOG000214506 | |
HOVERGEN | HBG050611 | |
InParanoid | P56381 | |
KO | K02135 | |
OMA | ANAMKTS | |
OrthoDB | EOG7GQXZP | |
PhylomeDB | P56381 | |
TreeFam | TF300278 | |
Reactome | REACT_6759 | |
ChiTaRS | ATP5E | |
GeneWiki | ATP5E | |
GenomeRNAi | 514 | |
NextBio | 2129 | |
PRO | PR:P56381 | |
Proteomes | UP000005640 | |
Bgee | P56381 | |
CleanEx | HS_ATP5E | |
Genevestigator | P56381 | |
GO | GO:0005759 GO:0005753 GO:0000275 GO:0046933 GO:0046961 GO:0022857 GO:0006200 GO:0044237 GO:0042776 GO:0022904 GO:0044281 | |
Gene3D | 1.10.1620.20 | |
InterPro | IPR006721 | |
Pfam | PF04627 | |
SUPFAM | SSF48690 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
GO:0000275 |
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) |
ECO:0000315 |
C |
In the paragraph labeled "Low content of ATP synthase subunit ε, but increased content of subunit c is present in patient mitochondria". Figure 6 shows the patient mitochondria with accumulated Fo subunit c of ATP synthase. Figure 5 shows a mutated subunit ε is incorporated in the ATP synthase complex. |
complete | |||||
part_of |
GO:0000275 |
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0042776 |
mitochondrial ATP synthesis coupled proton transport |
ECO:0000305 |
curator inference used in manual assertion |
GO:0005753 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0022857 |
transmembrane transporter activity |
ECO:0000305 |
curator inference used in manual assertion |
GO:0005753 |
F |
Seeded From UniProt |
complete | ||
contributes_to |
GO:0016887 |
ATPase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005753 |
mitochondrial proton-transporting ATP synthase complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0016887 |
ATPase activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000278562 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0005743 |
mitochondrial inner membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000278562 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0099132 |
ATP hydrolysis coupled cation transmembrane transport |
ECO:0000366 |
evidence based on logical inference from automatic annotation used in automatic assertion |
GO:0046933 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0000275 |
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0015986 |
ATP synthesis coupled proton transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0046933 |
proton-transporting ATP synthase activity, rotational mechanism |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005753 |
mitochondrial proton-transporting ATP synthase complex |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0042776 |
mitochondrial ATP synthesis coupled proton transport |
Reactome:R-HSA-164834 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0042407 |
cristae formation |
Reactome:R-HSA-8949613 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006754 |
ATP biosynthetic process |
Reactome:R-HSA-164840 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
P |
Seeded From UniProt |
complete | |
part_of |
GO:0005759 |
mitochondrial matrix |
Reactome:R-HSA-8949580 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
involved_in |
GO:0006811 |
ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006754 |
ATP biosynthetic process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005739 |
mitochondrion |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005743 |
mitochondrial inner membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0016787 |
hydrolase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0045261 |
proton-transporting ATP synthase complex, catalytic core F(1) |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Mayr, JA et al. (2010) Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum. Mol. Genet. 19 3430-9 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 Aggeler, R et al. (2002) A functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies. J. Biol. Chem. 277 33906-12 PubMed GONUTS page
- ↑ 3.0 3.1 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Tu, Q et al. (2000) Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif. Biochem. J. 347 Pt 1 17-21 PubMed GONUTS page
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