COX7A2L

Protein-coding gene in the species Homo sapiens
COX7A2L
Identifiers
AliasesCOX7A2L, COX7AR, COX7RP, EB1, SIG81, cytochrome c oxidase subunit 7A2 like, SCAFI, SCAF1
External IDsOMIM: 605771; MGI: 106015; HomoloGene: 3463; GeneCards: COX7A2L; OMA:COX7A2L - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for COX7A2L
Genomic location for COX7A2L
Band2p21Start42,333,546 bp[1]
End42,425,088 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for COX7A2L
Genomic location for COX7A2L
Band17|17 E4Start83,809,347 bp[2]
End83,824,759 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 17: 83.81 – 83.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000115944 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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


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