InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFS2

Summary

InnateDB Protein

IDBP-104228.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDUFS2

Protein Name

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

Synonyms

CI-49;

Species

Homo sapiens

Ensembl Protein

ENSP00000356972

InnateDB Gene

IDBG-104226 (NDUFS2)

Protein Structure

UniProt Annotation

Function

Core 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}.

Subcellular Localization

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Disease Associations

Mitochondrial 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:0000269PubMed:11220739}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003954	NADH dehydrogenase activity
GO:0005515	protein binding
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0009055	electron carrier activity
GO:0016651	oxidoreductase activity, acting on NAD(P)H
GO:0046872	metal ion binding
GO:0048038	quinone binding
GO:0051287	NAD binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0006979	response to oxidative stress
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process