• Gene id: 1352

Gene Summary

• Gene Symbol: COX10   Gene   UCSC   Ensembl
• Gene name: COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor
• Alternate names: protoheme IX farnesyltransferase, mitochondrial, COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase, cytochrome c oxidase assembly homolog 10, cytochrome c oxidase assembly protein, cytochrome c oxidase subunit X, heme A: fa,
• Gene location: 17p12 (14069401: 14208678)     Exons: 7     NC_000017.11
• Gene summary(Entrez): 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 mitochond
• OMIM: 602125

Protein Summary

• Protein general information: Q12887  
  • Name: Protoheme IX farnesyltransferase, mitochondrial (EC 2.5.1. ) (Heme O synthase)
  • Length: 443  
  • Mass: 48,910
• Sequence:

  MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPK
  PEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQV
  YDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRP
  LVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGW
  TAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLD
  ITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS

• Structural information:
  • Interpro: IPR006369  IPR016315  IPR000537  IPR030470  
  • Prosite: PS00943
  • CDD: cd13957
  • STRING: ENSP00000261643
• Other Databases: GeneCards:  COX10  Malacards:  COX10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000266	mitochondrial fission	IEA	biological process
GO:0004311	farnesyltranstransferase activity	TAS	molecular function
GO:0005739	mitochondrion	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IC	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0006784	heme a biosynthetic process	IMP	biological process
GO:0008495	protoheme IX farnesyltransferase activity	TAS	molecular function
GO:0008535	respiratory chain complex IV assembly	IMP	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045333	cellular respiration	IGI	biological process
GO:0048034	heme O biosynthetic process	IEA	biological process
GO:0070069	cytochrome complex	IMP	cellular component
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function
GO:0000266	mitochondrial fission	IEA	biological process
GO:0004311	farnesyltranstransferase activity	TAS	molecular function
GO:0004659	prenyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IC	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0006784	heme a biosynthetic process	IEA	biological process
GO:0006784	heme a biosynthetic process	IMP	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0008495	protoheme IX farnesyltransferase activity	IEA	molecular function
GO:0008495	protoheme IX farnesyltransferase activity	TAS	molecular function
GO:0008535	respiratory chain complex IV assembly	IMP	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0017004	cytochrome complex assembly	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0045333	cellular respiration	IGI	biological process
GO:0048034	heme O biosynthetic process	IEA	biological process
GO:0070069	cytochrome complex	IMP	cellular component
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function
GO:0004311	farnesyltranstransferase activity	TAS	molecular function
GO:0005739	mitochondrion	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IC	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0006784	heme a biosynthetic process	IMP	biological process
GO:0008495	protoheme IX farnesyltransferase activity	TAS	molecular function
GO:0008535	respiratory chain complex IV assembly	IMP	biological process
GO:0045333	cellular respiration	IGI	biological process
GO:0070069	cytochrome complex	IMP	cellular component
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 17903301
Mitochondrial diseases	OMIM: 602125
Leigh syndrome	KEGG: H01354
Alzheimer's disease	GAD: 19826901
Non obstructive azoospermia	MIK: 19694371
Male factor infertility	MIK: 19694371
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non-obstructive azoospermia	MIK: 19694371
Spermatogenic defects	MIK: 31037746
Azoospermia	MIK: 26662397
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19694371	Non-obstructive azoospermia			49 (10 fertile, 39 non-obstructive azoospermic testes)	Male infertility
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray