Entity Details

Primary name NDUA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15239
EntryNameNDUA1_HUMAN
FullNameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
TaxID9606
Evidenceevidence at protein level
Length70
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesNDUFA1

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0032981 mitochondrial respiratory chain complex I assembly

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR017384 NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex subunit 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
301020 OMIMMitochondrial complex I deficiency, nuclear type 12 (MC1DN12)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule

Interactions

4 interactions