InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFS4

Summary

InnateDB Protein

IDBP-20551.4

Last Modified

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

Gene Symbol

NDUFS4

Protein Name

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)

Synonyms

AQDQ; CI-18;

Species

Homo sapiens

Ensembl Protein

ENSP00000296684

InnateDB Gene

IDBG-20547 (NDUFS4)

Protein Structure

UniProt Annotation

Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

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. 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 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	24 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0016651	oxidoreductase activity, acting on NAD(P)H

Biological Process

GO:0001932	regulation of protein phosphorylation
GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0007420	brain development
GO:0019933	cAMP-mediated signaling
GO:0022900	electron transport chain
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:0045333	cellular respiration
GO:0048146	positive regulation of fibroblast proliferation
GO:0051591	response to cAMP
GO:0072593	reactive oxygen species metabolic process