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MGP002063

UniProt Annotations

Entry Information
Gene NameNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Protein EntryNDUS2_HUMAN
UniProt IDO75306
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75306-1; Sequence=Displayed; Name=2; IsoId=O75306-2; Sequence=VSP_046466; Note=No experimental confirmation available.;
Catalytic ActivityNADH + acceptor = NAD(+) + reduced acceptor.
Catalytic ActivityNADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
CofactorName=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
DiseaseMitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269|PubMed:11220739}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCore subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). {ECO:0000250}.
InteractionO75489:NDUFS3; NbExp=5; IntAct=EBI-1224806, EBI-1224896;
SimilarityBelongs to the complex I 49 kDa subunit family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SubunitComplex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3 and NDUFAF7. {ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:19463981, ECO:0000269|PubMed:20406883}.
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