InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COX10

Summary

InnateDB Protein

IDBP-31347.6

Last Modified

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

Gene Symbol

COX10

Protein Name

COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000261643

InnateDB Gene

IDBG-31345 (COX10)

Protein Structure

UniProt Annotation

Function

Converts protoheme IX and farnesyl diphosphate to heme O. {ECO:0000250}.

Subcellular Localization

Mitochondrion membrane; Multi-pass membrane protein.

Disease Associations

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269PubMed:10767350, ECO:0000269PubMed:12928484}. 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. 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 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004129	cytochrome-c oxidase activity
GO:0004311	farnesyltranstransferase activity
GO:0004659	prenyltransferase activity
GO:0008495	protoheme IX farnesyltransferase activity

Biological Process

GO:0000266	mitochondrial fission
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:0007005	mitochondrion organization
GO:0008535	respiratory chain complex IV assembly
GO:0009060	aerobic respiration
GO:0017004	cytochrome complex assembly
GO:0044281	small molecule metabolic process
GO:0045333	cellular respiration
GO:0048034	heme O biosynthetic process
GO:1902600	hydrogen ion transmembrane transport