COX18, cytochrome c oxidase assembly factor

COX18
Identifiers
AliasesCOX18, COX18HS, COX18 cytochrome c oxidase assembly factor, cytochrome c oxidase assembly factor, cytochrome c oxidase assembly factor COX18
External IDsMGI: 2448532 HomoloGene: 14821 GeneCards: COX18
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q13.3Start73,052,362 bp[1]
End73,069,755 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 5: 90.21 – 90.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163626 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035505 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 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. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.


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