Alternative titles; symbols
HGNC Approved Gene Symbol: COX7A1
Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,150,922-36,152,447 (from NCBI)
Cytochrome c oxidase (COX; EC 1.9.3.1), the last component of the mitochondrial respiratory chain, catalyzes the transfer of electrons from reduced cytochrome c to molecular oxygen. In mammals, the apoprotein is composed of 3 large catalytic subunits, encoded by the mitochondrial genome (516030, 516040, and 516050), and by 10 smaller, nuclear-encoded subunits which may play a regulatory role. Subunit VIIa of mammalian COX exists in at least 2 isoforms, liver (see 123996) and muscle.
Arnaudo et al. (1992) isolated a full-length cDNA encoding the COX7A muscle isoform. The deduced polypeptide shares 78% identity with the bovine muscle form but only 63% identity with the human liver isoform. Northern blot analysis of primate tissues demonstrated that mRNA for the muscle form is present only in muscle tissues; in contrast, liver mRNA is present in both muscle and nonmuscle tissues.
Fabrizi et al. (1989) reported the sequence of the human COX7A1 gene.
Wolz et al. (1997) described the genomic sequence and organization of the human COX7A1 gene and compared it with its bovine homolog. The coding region of the gene extends over 1.45 kb of genomic sequence and is organized into 4 exons. Intron-exon boundaries are well conserved between cattle and humans. Although COX7A1 is a gene for a tissue-specific isoform, it has some features of a housekeeping gene: it is located in a CpG island, like its bovine homolog, and no TATA or CCAAT boxes are found in the 5-prime flanking sequence.
By Southern blot analysis of human/rodent cell hybrid genomic DNA, Arnaudo et al. (1992) determined that the COX7A muscle form is encoded by a single locus, designated COX7A1, on chromosome 19.
Arnaudo, E., Hirano, M., Seelan, R. S., Milatovich, A., Hsieh, C.-L., Fabrizi, G. M., Grossman, L. I., Francke, U., Schon, E. A. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. Gene 119: 299-305, 1992. [PubMed: 1327965] [Full Text: https://doi.org/10.1016/0378-1119(92)90287-y]
Fabrizi, G. M., Rizzuto, R., Nakase, H., Mita, S., Lomax, M. I., Grossman, L. I., Schon, E. A. Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. Nucleic Acids Res. 17: 7107 only, 1989. [PubMed: 2550906] [Full Text: https://doi.org/10.1093/nar/17.17.7107]
Wolz, W., Kress, W., Mueller, C. R. Genomic sequence structure and organization of the human gene for cytochrome c oxidase subunit (COX7A1) VIIa-M. Genomics 45: 438-442, 1997. [PubMed: 9344674] [Full Text: https://doi.org/10.1006/geno.1997.4937]