InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COX15

Summary

InnateDB Protein

IDBP-86105.7

Last Modified

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

Gene Symbol

COX15

Protein Name

COX15 homolog, cytochrome c oxidase assembly protein (yeast)

Synonyms

CEMCOX2;

Species

Homo sapiens

Ensembl Protein

ENSP00000359514

InnateDB Gene

IDBG-86103 (COX15)

Protein Structure

UniProt Annotation

Function

May be involved in the biosynthesis of heme A. {ECO:0000269PubMed:12474143}.

Subcellular Localization

Mitochondrion membrane {ECO:0000269PubMed:9878253}; Multi-pass membrane protein {ECO:0000269PubMed:9878253}.

Disease Associations

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. {ECO:0000269PubMed:12474143, ECO:0000269PubMed:21412973}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:15235026, ECO:0000269PubMed:15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269PubMed:9878253}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	13 [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:0003824	catalytic activity
GO:0004129	cytochrome-c oxidase activity
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors

Biological Process

GO:0006123	mitochondrial electron transport, cytochrome c to oxygen
GO:0006778	porphyrin-containing compound metabolic process
GO:0006783	heme biosynthetic process
GO:0006784	heme a biosynthetic process
GO:0007585	respiratory gaseous exchange
GO:0008535	respiratory chain complex IV assembly
GO:0044281	small molecule metabolic process
GO:0045333	cellular respiration
GO:0055114	oxidation-reduction process
GO:1902600	hydrogen ion transmembrane transport