title: Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.
abstract: We have cloned the human homolog of the Saccharomyces cerevisiae COX10 gene by functional complementation of a yeast cox10 null mutant. The 2.8-kb cDNA encoding the human heme A:farnesyltransferase codes for a 443-aa protein with high homology to the yeast and bacterial farnesylases. The human COX10 homolog, however, does not complement the mutation as efficiently as the yeast COX10 protein, likely due to the heterologous environment. PCR amplification and Southern analysis confirm the existence of a large mRNA for the human protein, with an unusually long 3' untranslated region. This clone can now be used to screen patients with inherited deficiencies in cytochrome oxidase in which the mutations remain unidentified and are likely to reside in a protein influencing the assembly of the enzyme.
authors.affiliation: Department of Biological Sciences, Columbia University, New York, NY 10027.
authors.forename: D M
authors.initials: DM
authors.lastname: Glerum
authors.forename: A
authors.initials: A
authors.lastname: Tzagoloff
mesh_terms: D019883:Alkyl and Aryl Transferases; D000595:Amino Acid Sequence; D001426:Bacterial Proteins / Q000737:chemistry; D003001:Cloning, Molecular; D003576:Electron Transport Complex IV; D005816:Genetic Complementation Test; D006418:Heme / Q000378:metabolism*; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D012441:Saccharomyces cerevisiae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014166:Transferases / Q000737:chemistry / Q000235:genetics*
chemical_list: D001426:Bacterial Proteins; D008565:Membrane Proteins; D029701:Saccharomyces cerevisiae Proteins; D006418:Heme; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D014166:Transferases; D019883:Alkyl and Aryl Transferases; C086105:COX10 protein, S cerevisiae