COX6A1
| Cytochrome c oxidase subunit VIa polypeptide 1 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | COX6A1; COX6A; COX6AL | ||||||||||||
| External IDs | OMIM: 602072 MGI: 103099 HomoloGene: 3219 GeneCards: COX6A1 Gene | ||||||||||||
| EC number | 1.9.3.1 | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1337 | 12861 | |||||||||||
| Ensembl | ENSG00000111775 | ENSMUSG00000041697 | |||||||||||
| UniProt | P12074 | P43024 | |||||||||||
| RefSeq (mRNA) | NM_004373 | NM_007748 | |||||||||||
| RefSeq (protein) | NP_004364 | NP_031774 | |||||||||||
| Location (UCSC) | Chr 12: 120.88 – 120.88 Mb | Chr 5: 115.35 – 115.35 Mb | |||||||||||
| PubMed search | |||||||||||||
Cytochrome c oxidase subunit 6A1, mitochondrial is an enzyme that in humans is encoded by the COX6A1 gene.[1][2]
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented.[2]
References
- ↑ Hey Y, Hoggard N, Burt E, James LA, Varley JM (Sep 1997). "Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids". Cytogenet Cell Genet 77 (3–4): 167–8. doi:10.1159/000134565. PMID 9284905.
- ↑ 2.0 2.1 "Entrez Gene: COX6A1 cytochrome c oxidase subunit VIa polypeptide 1".
Further reading
- Hochstrasser DF, Frutiger S, Paquet N, et al. (1993). "Human liver protein map: a reference database established by microsequencing and gel comparison". Electrophoresis 13 (12): 992–1001. doi:10.1002/elps.11501301201. PMID 1286669.
- Fabrizi GM, Sadlock J, Hirano M, et al. (1992). "Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase". Gene 119 (2): 307–12. doi:10.1016/0378-1119(92)90288-Z. PMID 1327966.
- Fabrizi GM, Rizzuto R, Nakase H, et al. (1989). "Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase". Nucleic Acids Res. 17 (15): 6409. doi:10.1093/nar/17.15.6409. PMC 318308. PMID 2549515.
- Schmidt TR, Jaradat SA, Goodman M, et al. (1997). "Molecular evolution of cytochrome c oxidase: rate variation among subunit VIa isoforms". Mol. Biol. Evol. 14 (6): 595–601. PMID 9190060.
- Merante F, Ling M, Duncan AM, et al. (1997). "Cloning, characterization, and chromosomal localization of human liver form cytochrome c oxidase subunit VIa related genes". Genome 40 (3): 325–31. doi:10.1139/g97-045. PMID 9202413.
- Wong-Riley M, Guo A, Bachman NJ, Lomax MI (2000). "Human COX6A1 gene: promoter analysis, cDNA isolation and expression in the monkey brain". Gene 247 (1–2): 63–75. doi:10.1016/S0378-1119(00)00121-9. PMID 10773445.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Scherer SE, Muzny DM, Buhay CJ, et al. (2006). "The finished DNA sequence of human chromosome 12". Nature 440 (7082): 346–51. doi:10.1038/nature04569. PMID 16541075.