Entity Details

Primary name NDUAA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95299
EntryNameNDUAA_HUMAN
FullNameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length355
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesNDUFA10

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005759 mitochondrial matrix
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0032981 mitochondrial respiratory chain complex I assembly

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR015828 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrialFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR031314 Deoxynucleoside kinase domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618243 OMIMMitochondrial complex I deficiency, nuclear type 22 (MC1DN22)A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
NDUAA_HUMANPCNA_HUMANUniProt26030842 details
NDUAA_HUMANRAB8A_HUMANBioGRID, IntAct27173435 unassigned1312 details