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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 | |
| IPI | IPI00215878 | |
| RefSeq | NP_008817.1 | |
| UniGene | Hs.177530 | |
| ProteinModelPortal | P56381 | |
| SMR | P56381 | |
| IntAct | P56381 | |
| STRING | P56381 | |
| PhosphoSite | P56381 | |
| DMDM | 3023354 | |
| PRIDE | P56381 | |
| Ensembl | ENST00000243997 ENST00000395659 ENST00000395663 | |
| GeneID | 514 | |
| KEGG | hsa:514 | |
| UCSC | uc002yal.1 | |
| CTD | 514 | |
| GeneCards | GC20M057600 | |
| H-InvDB | HIX0015959 | |
| HGNC | HGNC:838 | |
| MIM | 606153 614053 | |
| neXtProt | NX_P56381 | |
| Orphanet | 254913 | |
| PharmGKB | PA25128 | |
| eggNOG | prNOG21826 | |
| GeneTree | ENSGT00390000015470 | |
| HOGENOM | HBG126088 | |
| HOVERGEN | HBG050611 | |
| InParanoid | P56381 | |
| OMA | TEFKASA | |
| OrthoDB | EOG43N7FH | |
| PhylomeDB | P56381 | |
| Reactome | REACT_111217 | |
| NextBio | 2129 | |
| ArrayExpress | P56381 | |
| Bgee | P56381 | |
| CleanEx | HS_ATP5E | |
| Genevestigator | P56381 | |
| GermOnline | ENSG00000124172 | |
| GO | GO:0005759 GO:0000275 GO:0046933 GO:0046961 GO:0042776 GO:0022904 | |
| InterPro | IPR006721 | |
| Gene3D | G3DSA:1.10.1620.20 | |
| KO | K02135 | |
| Pfam | PF04627 | |
| SUPFAM | SSF48690 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0000275 |
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005739 |
mitochondrion |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005739 |
mitochondrion |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0173 |
C |
Seeded From UniProt |
|||
| GO:0005739 |
mitochondrion |
IC: Inferred by Curator |
GO:0005753 |
C |
Seeded From UniProt |
|||
| GO:0005743 |
mitochondrial inner membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005743 |
mitochondrial inner membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0168 |
C |
Seeded From UniProt |
|||
| GO:0005753 |
mitochondrial proton-transporting ATP synthase complex |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005753 |
mitochondrial proton-transporting ATP synthase complex |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005759 |
mitochondrial matrix |
Reactome:REACT_190 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005759 |
mitochondrial matrix |
Reactome:REACT_1985 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005759 |
mitochondrial matrix |
Reactome:REACT_991 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0006200 |
ATP catabolic process |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0006754 |
ATP biosynthetic process |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0006810 |
transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0006811 |
ion transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0015986 |
ATP synthesis coupled proton transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0015992 |
proton transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016787 |
hydrolase activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0022857 |
transmembrane transporter activity |
IC: Inferred by Curator |
GO:0005753 |
F |
Seeded From UniProt |
|||
| GO:0022904 |
respiratory electron transport chain |
Reactome:REACT_6305 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0042776 |
mitochondrial ATP synthesis coupled proton transport |
IC: Inferred by Curator |
GO:0005753 |
P |
Seeded From UniProt |
|||
| GO:0042776 |
mitochondrial ATP synthesis coupled proton transport |
Reactome:REACT_6759 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0044281 |
small molecule metabolic process |
Reactome:REACT_111217 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0045261 |
proton-transporting ATP synthase complex, catalytic core F(1) |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0046933 |
hydrogen ion transporting ATP synthase activity, rotational mechanism |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0046961 |
proton-transporting ATPase activity, rotational mechanism |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0016887 |
ATPase activity |
IDA: Inferred from Direct Assay |
|
F |
Seeded From UniProt |
|||
| GO:0000275 |
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) |
IMP: Inferred from Mutant Phenotype |
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 | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 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
- ↑ 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
- ↑ 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
