InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFA4

Summary

InnateDB Protein

IDBP-8602.6

Last Modified

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

Gene Symbol

NDUFA4

Protein Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa

Synonyms

CI-9k; CI-MLRQ; MLRQ;

Species

Homo sapiens

Ensembl Protein

ENSP00000339720

InnateDB Gene

IDBG-8600 (NDUFA4)

Protein Structure

UniProt Annotation

Function

Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance. {ECO:0000269PubMed:22902835}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:23746447}; Peripheral membrane protein {ECO:0000269PubMed:23746447}; Matrix side {ECO:0000269PubMed:23746447}.

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:23746447}. 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 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004129	cytochrome-c oxidase activity
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0032403	protein complex binding

Biological Process

GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:1902600	hydrogen ion transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005747	mitochondrial respiratory chain complex I
GO:0005751	mitochondrial respiratory chain complex IV
GO:0070062	extracellular vesicular exosome