InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFS7

Summary

InnateDB Protein

IDBP-14303.6

Last Modified

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

Gene Symbol

NDUFS7

Protein Name

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000233627

InnateDB Gene

IDBG-14301 (NDUFS7)

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.

Disease Associations

Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269PubMed:10360771}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:10330338}. 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 21 experimentally validated interaction(s) in this database.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0003954	NADH dehydrogenase activity
GO:0005515	protein binding
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
GO:0046872	metal ion binding
GO:0048038	quinone binding
GO:0051536	iron-sulfur cluster binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0022904	respiratory electron transport chain
GO:0032981	mitochondrial respiratory chain complex I assembly
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005747	mitochondrial respiratory chain complex I
GO:0043005	neuron projection
GO:0043025	neuronal cell body
GO:0097060	synaptic membrane