COX6A1

From Wikipedia, the free encyclopedia

Cytochrome c oxidase subunit VIa polypeptide 1

Identifiers

COX6A1; COX6A; COX6AL; MGC104500

External IDs

OMIM: 602072 MGI: 103099 HomoloGene: 3219

Gene ontology
Molecular Function:	• cytochrome-c oxidase activity • oxidoreductase activity
Cellular Component:	• mitochondrion • mitochondrial envelope • membrane
Biological Process:	• electron transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004373 (mRNA)
NP_004364 (protein)

NM_007748 (mRNA)
NP_031774 (protein)

Location

Chr 12: 119.36 - 119.36 Mb

Chr 5: 115.61 - 115.61 Mb

Pubmed search

[1]

[2]

Cytochrome c oxidase subunit VIa polypeptide 1, also known as COX6A1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: COX6A1 cytochrome c oxidase subunit VIa polypeptide 1.

[edit] 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. 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. 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. 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. PMID 9202413.
Hey Y, Hoggard N, Burt E, et al. (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. PMID 9284905.
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. 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. 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. 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.