Homo sapiens Gene: COX10
Summary
InnateDB Gene IDBG-31345.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COX10
Gene Name cytochrome c oxidase assembly homolog 10 (yeast)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000006695
Encoded Proteins
COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:14069496-14208677
Strand Forward strand
Band p12
Transcripts
ENST00000261643 ENSP00000261643
ENST00000429152 ENSP00000397750
ENST00000580561 ENSP00000462190
ENST00000581931 ENSP00000462512
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
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
KEGG
Oxidative phosphorylation pathway
Porphyrin and chlorophyll metabolism pathway
INOH
PID NCI
Cross-References
SwissProt Q12887
TrEMBL B4DFR1 H7C101 J3KRW4 J3KSJ3
UniProt Splice Variant
Entrez Gene 1352
UniGene Hs.462278 Hs.640551
RefSeq NM_001303
HUGO HGNC:2260
OMIM 602125
CCDS CCDS11166
HPRD
IMGT
EMBL AC005224 AC005389 AK294213 AK312718 BC000060 BC006394 BT006985 U09466 U82004 U82005 U82006 U82007 U82008 U82009 U82010
GenPept AAA21148 AAC51330 AAH00060 AAH06394 AAP35631 BAG35592 BAG57522
RNA Seq Atlas 1352