Entity Details

Primary name ATPD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP30049
EntryNameATPD_HUMAN
FullNameATP synthase subunit delta, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length168
SequenceStatuscomplete
DateCreated1993-04-01
DateModified2021-06-02

Ontological Relatives

GenesATP5F1D

GO terms

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GOName
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0006119 oxidative phosphorylation
GO:0006754 ATP biosynthetic process
GO:0009060 aerobic respiration
GO:0015986 ATP synthesis coupled proton transport
GO:0016887 ATP hydrolysis activity
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0046688 response to copper ion
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR001469 ATP synthase, F1 complex, delta/epsilon subunitFamilyFamily
IPR020546 ATP synthase, F1 complex, delta/epsilon subunit, N-terminalDomainDomain
IPR036771 F0F1 ATP synthase delta/epsilon subunit, N-terminalFamilyHomologous superfamily
IPR036794 ATP synthase delta/epsilon subunit, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618120 OMIMMitochondrial complex V deficiency, nuclear type 5 (MC5DN5)A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00753 IsofluraneDrugbanksmall molecule
DB01189 DesfluraneDrugbanksmall molecule
DB13749 Magnesium gluconateSwissprotsmall molecule