Entity Details

Primary name ATP5E_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP56381
EntryNameATP5E_HUMAN
FullNameATP synthase subunit epsilon, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length51
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesATP5F1E

GO terms

Show/Hide Table
GOName
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0006754 ATP biosynthetic process
GO:0016787 hydrolase activity
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR006721 ATP synthase, F1 complex, epsilon subunit, mitochondrialFamilyFamily
IPR036742 ATP synthase, F1 complex, epsilon subunit superfamily, mitochondrialFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614053 OMIMMitochondrial complex V deficiency, nuclear type 3 (MC5DN3)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions