HGNC Approved Gene Symbol: COQ10A
Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,266,942-56,270,966 (from NCBI)
Coenzyme Q (CoQ) is an essential redox-active lipid in respiratory electron and proton transport during cellular energy metabolism. It also functions as a membrane-localized antioxidant that protects cells from lipid peroxidation. COQ10A is a lipid-binding START domain protein required for CoQ function (Tsui et al., 2019).
By database analysis, Tsui et al. (2019) identified 2 splice variants of human COQ10A that encode isoforms that differ at their N termini. The longest isoform of COQ10A contains 247 amino acids and has an N-terminal mitochondrial targeting sequence and a START domain. The shorter isoform contains 215 amino acids and has a unique N terminus lacking the mitochondrial targeting sequence, but it retains the START domain. Human COQ10A shares low sequence identity with Coq10 orthologs from other species, but its predicted START domain structures are conserved.
By complementation analysis in yeast, Tsui et al. (2019) showed that human COQ10A and COQ10B (620737) were functional orthologs of yeast Coq10, as expression of either COQ10A or COQ10B restored respiratory growth in mutants lacking Coq10. Human COQ10A or COQ10B restored the steady-state levels of CoQ polypeptides in mutant yeast, but they failed to restore the CoQ synthome and CoQ biosynthesis. In addition, human COQ10A or COQ10B rescued mutant yeast from sensitivity to oxidative stress.
Tsui et al. (2019) stated that the COQ10A gene contains 6 exons, including 2 alternative first exons.
Tsui et al. (2019) stated that the COQ10A gene maps to chromosome 12.
Gross (2024) mapped the COQ10A gene to chromosome 12q13.3 based on an alignment of the COQ10A sequence (GenBank BC073923) with the genomic sequence (GRCh38).
Gross, M. B. Personal Communication. Baltimore, Md. 2/28/2024.
Tsui, H. S., Pham, N. V. B., Amer, B. R., Bradley, M. C., Gosschalk, J. E., Gallagher-Jones, M., Ibarra, H., Clubb, R. T., Blaby-Haas, C. E., Clarke, C. F. Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function. J. Lipid Res. 60: 1293-1310, 2019. [PubMed: 31048406] [Full Text: https://doi.org/10.1194/jlr.M093534]