Entity Details

Primary name NDUS7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75251
EntryNameNDUS7_HUMAN
FullNameNADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length213
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesNDUFS7

GO terms

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GOName
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:0009060 aerobic respiration
GO:0015990 electron transport coupled proton transport
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0046872 metal ion binding
GO:0048038 quinone binding
GO:0051539 4 iron, 4 sulfur cluster binding

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR006137 NADH:ubiquinone oxidoreductase-like, 20kDa subunitDomainDomain
IPR006138 NADH-ubiquinone oxidoreductase, 20 Kd subunitFamilyFamily

Diseases

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Disease IDSourceNameDescription
618224 OMIMMitochondrial complex I deficiency, nuclear type 3 (MC1DN3)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. MC1DN3 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
DB00997 DoxorubicinDrugbanksmall molecule

Interactions

5 interactions