COX18, cytochrome c oxidase assembly factor

COX18
Identifiers
Aliases	COX18, COX18HS, COX18 cytochrome c oxidase assembly factor, cytochrome c oxidase assembly factor, cytochrome c oxidase assembly factor COX18
External IDs	OMIM: 610428; MGI: 2448532; HomoloGene: 14821; GeneCards: COX18; OMA:COX18 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	73,069,755 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	90,371,860 bp
RNA expression pattern
	Top expressed in
	tibia; ; retinal pigment epithelium; ; jejunal mucosa; ; oral cavity; ; skin of arm; ; germinal epithelium; ; myocardium of left ventricle; ; bronchial epithelial cell; ; corpus epididymis; ; palpebral conjunctiva;
	Top expressed in
	renal corpuscle; ; lactiferous gland; ; medullary collecting duct; ; entorhinal cortex; ; Ileal epithelium; ; perirhinal cortex; ; endocardial cushion; ; left lobe of liver; ; secondary oocyte; ; choroid plexus of fourth ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; membrane insertase activity;
Cellular component	integral component of membrane; mitochondrial inner membrane; membrane; mitochondrion; integral component of mitochondrial inner membrane;
Biological process	respiratory chain complex IV assembly; protein insertion into mitochondrial membrane; protein transport; protein insertion into mitochondrial inner membrane from matrix; mitochondrial cytochrome c oxidase assembly; protein insertion into membrane;
	Sources:Amigo / QuickGO
Orthologs
	285521
	231430
	ENSG00000163626
	ENSMUSG00000035505
	Q8N8Q8
	Q8VC74
	NM_001033760; NM_001297732; NM_001297733; NM_001300729; NM_173827
	NM_001033310; NM_001163456
	NP_001284661; NP_001284662; NP_001287658; NP_776188
	NP_001028482; NP_001156928
	Wikidata
View/Edit Human	View/Edit Mouse

COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene. ^[5]

Function

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163626 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035505 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: COX18, cytochrome c oxidase assembly factor". Retrieved 2017-12-11.

Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R, Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S, Salviati L (2005). "hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly". Biochem. Biophys. Res. Commun. 337 (3): 832–9. doi:10.1016/j.bbrc.2005.09.127. hdl:11577/2435124. PMID 16212937.
Sacconi S, Salviati L, Trevisson E (2009). "Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency". J. Hum. Genet. 54 (7): 419–21. doi:10.1038/jhg.2009.36. PMID 19373256.
Karasik D, Hsu YH, Zhou Y, Cupples LA, Kiel DP, Demissie S (2010). "Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study". J. Bone Miner. Res. 25 (7): 1555–63. doi:10.1002/jbmr.38. PMC 3153998. PMID 20200953.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
Zhang X, Yang H, Lee JJ, Kim E, Lippman SM, Khuri FR, Spitz MR, Lotan R, Hong WK, Wu X (2010). "MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer". Carcinogenesis. 31 (12): 2118–23. doi:10.1093/carcin/bgq177. PMC 3105587. PMID 20819778.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163626 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035505 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: COX18, cytochrome c oxidase assembly factor". Retrieved 2017-12-11.

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Function

References

Further reading