COX7A2L

Cytochrome c oxidase subunit 7A-related protein, mitochondrial is an enzyme that in humans is encoded by the COX7A2L gene.[5][6]

COX7A2L
Identifiers
Aliases	COX7A2L, COX7AR, COX7RP, EB1, SIG81, cytochrome c oxidase subunit 7A2 like
External IDs	OMIM: 605771 MGI: 106015 HomoloGene: 3463 GeneCards: COX7A2L
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 42,333,546 bp[1] End 42,425,088 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E4 Start 83,501,918 bp[2] End 83,517,330 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • electron transfer activity • cytochrome-c oxidase activity Cellular component • mitochondrial inner membrane • membrane • mitochondrial respiratory chain • nucleolus • mitochondrion Biological process • hydrogen ion transmembrane transport • electron transport chain • regulation of oxidative phosphorylation • mitochondrial respiratory chain supercomplex assembly • mitochondrial electron transport, cytochrome c to oxygen Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9167	20463
Ensembl	ENSG00000115944	ENSMUSG00000024248
UniProt	O14548	Q61387
RefSeq (mRNA)	NM_004718 NM_001319036 NM_001319037 NM_001319038 NM_001319040	NM_001159529 NM_009187
RefSeq (protein)	NP_001305965 NP_001305966 NP_001305967 NP_001305969 NP_004709	NP_001153001 NP_033213
Location (UCSC)	Chr 2: 42.33 – 42.43 Mb	Chr 17: 83.5 – 83.52 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence.

This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000115944 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024248 - 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. Watanabe T, Inoue S, Hiroi H, Orimo A, Kawashima H, Muramatsu M (Jan 1998). "Isolation of estrogen-responsive genes with a CpG island library". Mol Cell Biol. 18 (1): 442–9. doi:10.1128/mcb.18.1.442. PMC 121513. PMID 9418891.
6. "Entrez Gene: COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like".

Further reading

• Segade F, Hurlé B, Claudio E, et al. (1996). "Identification of an additional member of the cytochrome c oxidase subunit VIIa family of proteins". J. Biol. Chem. 271 (21): 12343–9. doi:10.1074/jbc.271.21.12343. PMID 8647836.
• Schmidt TR, Goodman M, Grossman LI (1999). "Molecular evolution of the COX7A gene family in primates". Mol. Biol. Evol. 16 (5): 619–26. doi:10.1093/oxfordjournals.molbev.a026144. PMID 10335655.
• Lee N, Daly MJ, Delmonte T, et al. (2001). "A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16". Am. J. Hum. Genet. 68 (2): 397–409. doi:10.1086/318197. PMC 1235273. PMID 11156535.
• 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.
• Schmidt TR, Doan JW, Goodman M, Grossman LI (2004). "Retention of a duplicate gene through changes in subcellular targeting: an electron transport protein homologue localizes to the golgi". J. Mol. Evol. 57 (2): 222–8. doi:10.1007/s00239-003-2468-8. PMID 14562965. S2CID 25021067.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• 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.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

• Human COX7A2L genome location and COX7A2L gene details page in the UCSC Genome Browser.