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) [1] Band 4q13.3 Start 73,052,362 bp [1] End 73,069,755 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 E1 Start 90,362,583 bp [2] End 90,371,860 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 285521 231430 Ensembl ENSG00000163626 ENSMUSG00000035505 UniProt Q8N8Q8 Q8VC74 RefSeq (mRNA) NM_001033760 NM_001297732 NM_001297733 NM_001300729 NM_173827 NM_001033310 NM_001163456 RefSeq (protein) NP_001284661 NP_001284662 NP_001287658 NP_776188 NP_001028482 NP_001156928 Location (UCSC) Chr 4: 73.05 – 73.07 Mb Chr 5: 90.36 – 90.37 Mb PubMed search [3] [4]
Wikidata
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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

1. GRCh38: Ensembl release 89: ENSG00000163626 – Ensembl, May 2017
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.
5. "Entrez Gene: COX18, cytochrome c oxidase assembly factor" . Retrieved 2017-12-11.

Further reading

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