COX15

From Wikipedia, the free encyclopedia

COX15 homolog, cytochrome c oxidase assembly protein (yeast)

Identifiers

External IDs

OMIM: 603646 MGI: 1920112 HomoloGene: 5848

Gene ontology
Molecular Function:	• cytochrome-c oxidase activity
Cellular Component:	• mitochondrial respiratory chain • membrane • integral to membrane • mitochondrial part
Biological Process:	• mitochondrial electron transport, cytochrome c to oxygen • protein complex assembly • heme a biosynthetic process • respiratory gaseous exchange • cytochrome c oxidase complex assembly • cellular respiration

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004376 (mRNA)
NP_004367 (protein)

NM_144874 (mRNA)
NP_659123 (protein)

Location

Chr 10: 101.46 - 101.48 Mb

Chr 19: 43.79 - 43.81 Mb

Pubmed search

[1]

[2]

COX15 homolog, cytochrome c oxidase assembly protein (yeast), also known as COX15, is a human gene.^[1]

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates several transcript variants diverging in the 3' region including alternate poly A sites. In total, 2 different isoforms are encoded by these variants.^[1]

[edit] References

^ ^a ^b Entrez Gene: COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast).

[edit] Further reading

Kennaway NG, Carrero-Valenzuela RD, Ewart G, et al. (1991). "Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency.". Pediatr. Res. 28 (5): 529-35. PMID 2175025.
Jaluria P, Betenbaugh M, Konstantopoulos K, Shiloach J (2008). "Enhancement of cell proliferation in various mammalian cell lines by gene insertion of a cyclin-dependent kinase homolog.". BMC Biotechnol. 7: 71. doi:10.1186/1472-6750-7-71. PMID 17945021.
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.
Oquendo CE, Antonicka H, Shoubridge EA, et al. (2004). "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.". J. Med. Genet. 41 (7): 540-4. PMID 15235026.
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.
Antonicka H, Mattman A, Carlson CG, et al. (2003). "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.". Am. J. Hum. Genet. 72 (1): 101-14. PMID 12474143.
Barros MH, Carlson CG, Glerum DM, Tzagoloff A (2001). "Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O.". FEBS Lett. 492 (1-2): 133-8. PMID 11248251.
Petruzzella V, Tiranti V, Fernandez P, et al. (1999). "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.". Genomics 54 (3): 494-504. doi:10.1006/geno.1998.5580. PMID 9878253.