Alternative titles; symbols
HGNC Approved Gene Symbol: OXA1L
Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,766,688-22,773,042 (from NCBI)
Cytochrome c oxidase is a complex of proteins that is essential for cellular energy metabolism. It functions by transferring electrons from reduced cytochrome c to molecular oxygen. Mammalian cytochrome c oxidase consists of 13 subunits. The 3 largest subunits are encoded by the mitochondrial genome while the remainder are produced by nuclear genes and imported into the mitochondria. One key component required for cytochrome c oxidase assembly, identified first in yeast, is the oxa1 gene. Bonnefoy et al. (1994) transformed an oxa- yeast strain with a HeLa cell expression vector cDNA library and isolated a clone which complemented the oxa- mutation. The cDNA, designated OXA1Hs by them, encodes a predicted 435-amino acid protein that is 33% identical to the yeast gene. Northern blots showed that the 2-kb mRNA was expressed at relatively high levels in all cell lines tested.
Rotig et al. (1997) determined the OXA1L genomic sequence. Sequence analysis revealed an additional upstream in-frame translation initiation codon. Using RT-PCR, the authors demonstrated that this region is transcribed. The resulting open reading frame encodes a predicted 495-amino acid protein with a putative N-terminal mitochondrial presequence.
Saaf et al. (1998) noted that the C-terminal membrane domain of OXA1 is conserved from prokaryotes to eukaryotes. They determined that the 60-kD OXA1 homolog of E. coli has 6 transmembrane segments. Mitochondrial OXA1 lacks an N-terminal transmembrane domain but otherwise has a similar hydrophobicity profile to the E. coli protein.
Rotig et al. (1997) found that the OXA1L gene contains 10 exons and spans 5 kb.
Molina-Gomes et al. (1995) mapped the OXA1L gene to 14q11.2 by fluorescence in situ hybridization.
Bonnefoy, N., Kermorgant, M., Groudinsky, O. P., Slonimski, P. P., Dujardin, G. Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae. Proc. Nat. Acad. Sci. 91: 11978-11982, 1994. [PubMed: 7991568] [Full Text: https://doi.org/10.1073/pnas.91.25.11978]
Molina-Gomes, D., Bonnefoy, N., Nguyen, V. C., Viegas-Pequignot, E., Rotig, A., Dujardin, G. The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome. Genomics 30: 396-398, 1995. [PubMed: 8586451]
Rotig, A., Parfait, B., Heidet, L., Dujardin, G., Rustin, P., Munnich, A. Sequence and structure of the human OXA1L gene and its upstream elements. Biochim. Biophys. Acta 1361: 6-10, 1997. [PubMed: 9247084] [Full Text: https://doi.org/10.1016/s0925-4439(97)00031-8]
Saaf, A., Monne, M., de Gier, J.-W., von Heijne, G. Membrane topology of the 60-kDa Oxa1p homologue from Escherichia coli. J. Biol. Chem. 273: 30415-30418, 1998. [PubMed: 9804807] [Full Text: https://doi.org/10.1074/jbc.273.46.30415]