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HUMAN:ATP5E

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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)

PMID:20566710[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
CACAO 3740

part_of

GO:0000275

mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)

PMID:20566710[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

PMID:12110673[2]

ECO:0000305

curator inference used in manual assertion

GO:0005753

P

Seeded From UniProt

complete

enables

GO:0022857

transmembrane transporter activity

PMID:12110673[2]

ECO:0000305

curator inference used in manual assertion

GO:0005753

F

Seeded From UniProt

complete

contributes_to

GO:0016887

ATPase activity

PMID:12110673[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005753

mitochondrial proton-transporting ATP synthase complex

PMID:12110673[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

contributes_to

GO:0016887

ATPase activity

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000278562
RGD:621374
SGD:S000006192
UniProtKB:P56381

F

Seeded From UniProt

complete

part_of

GO:0005743

mitochondrial inner membrane

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000278562
RGD:621374

C

Seeded From UniProt

complete

involved_in

GO:0099132

ATP hydrolysis coupled cation transmembrane transport

GO_REF:0000108

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)

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR006721
InterPro:IPR036742

C

Seeded From UniProt

complete

involved_in

GO:0015986

ATP synthesis coupled proton transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR006721
InterPro:IPR036742

P

Seeded From UniProt

complete

enables

GO:0046933

proton-transporting ATP synthase activity, rotational mechanism

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR006721
InterPro:IPR036742

F

Seeded From UniProt

complete

part_of

GO:0005753

mitochondrial proton-transporting ATP synthase complex

PMID:10727396[4]

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
Reactome:R-HSA-164832

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
Reactome:R-HSA-164840
Reactome:R-HSA-164834
Reactome:R-HSA-164832

ECO:0000304

author statement supported by traceable reference used in manual assertion




C

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

involved_in

GO:0006754

ATP biosynthetic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0066

P

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0496
UniProtKB-SubCell:SL-0173

C

Seeded From UniProt

complete

part_of

GO:0005743

mitochondrial inner membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0999
UniProtKB-SubCell:SL-0168

C

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0045261

proton-transporting ATP synthase complex, catalytic core F(1)

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0139

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 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. 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. 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
  4. 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