COX7A2L

COX7A2L
Identifiers
Aliases	COX7A2L , COX7AR, COX7RP, EB1, SIG81, cytochrome c oxidase subunit 7A2 like, SCAFI, SCAF1
External IDs	OMIM: 605771; MGI: 106015; HomoloGene: 3463; GeneCards: COX7A2L; OMA:COX7A2L - orthologs
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 83,809,347 bp [2] End 83,824,759 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell right adrenal cortex Achilles tendon left adrenal gland left adrenal cortex islet of Langerhans middle temporal gyrus amniotic fluid secondary oocyte beta cell Top expressed in spleen ganglionic eminence uterus bone marrow pancreas ventricular zone thymus islet of Langerhans duodenum lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function electron transfer activity cytochrome-c oxidase activity Cellular component mitochondrial inner membrane membrane mitochondrial respirasome nucleolus mitochondrion Biological process proton transmembrane transport electron transport chain regulation of oxidative phosphorylation mitochondrial respirasome 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: 83.81 – 83.82 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

External links

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