Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
Combined Automated Annotation using Multiple IEA Methods
Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.
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Human COQ2 was cloned and shown to be an active polyprenyltransferase; expressed in a yeast coq2-null mutant it restored CoQ biosynthesis and produced labelled CoQ from decaprenyl and nonaprenyl pyrophosphate precursors.
"The human COQ2 gene, when expressed in yeast Coq2 null mutant cells, rescued the growth of this yeast strain in the absence of a non-fermentable carbon source and restored CoQ biosynthesis."
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
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A homozygous COQ2 missense mutation caused primary CoQ10 deficiency, with a severe biosynthetic defect confirmed by radioisotope assay in patient fibroblasts.
"Radioisotope assays confirmed a severe defect of CoQ(10) biosynthesis in the fibroblasts of one patient."
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
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Wild-type but not mutant COQ2 complements COQ2-defective yeast, and polyprenyl-pHB transferase activity was reduced to 33-45% of controls in COQ2 mutant fibroblasts, confirming the enzymatic and biosynthetic defect.
"Polyprenyl-pHB transferase activity was 33-45% of controls in COQ2 mutant fibroblasts."
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
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Defined COQ2 structure and subcellular localization (mitochondria, C-terminus facing the intermembrane space) and, via yeast complementation of all reported alleles, showed that residual COQ2 activity correlates with clinical severity.
"its protein product localizes to mitochondria with the C-terminus facing the intermembrane space"
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
COQ2 ligates all-E-10PrP2 to PHB
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COQ2 combines 4-hydroxybenzoate (PHB) with all-trans-decaprenyl diphosphate to form 3-decaprenyl-4-hydroxybenzoate, the human decaprenyl prenylation step of CoQ10 biosynthesis.
"4-Hydroxybenzoate polyprenyltransferase (COQ2) catalyses the combination of 4-hydroxybenzoic acid, aka para-hydroxybenzoic acid (PHB), with the polyisoprenoid tail all-trans-decaprenyl diphosphate (all-E-10PrP2) to form 3-decaprenyl-4-hydroxybenzoate (DHB)"