Literature summary for 2.1.1.201 extracted from

Nguyen, T.P.; Casarin, A.; Desbats, M.A.; Doimo, M.; Trevisson, E.; Santos-Ocana, C.; Navas, P.; Clarke, C.F.; Salviati, L.
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis (2014), Biochim. Biophys. Acta, 1841, 1628-1638.

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Cloned(Commentary)

Cloned (Comment)	Organism
the gene encoding human COQ5 spans to 26 kb on chromosome 12q24.31 and is comprised of seven exons, HEK-293 cells are co-transfected with the pCOQ5-myc and pCOQ4-V5, expression of a COQ5-GFP construct in HeLa cells, construction of a hybrid yeast-human COQ5 (yhCOQ5) gene by amplifying a 5' segment of yCOQ5, corresponding to the mitochondrial targeting region (encoding aa 1-54) and the 3' of human COQ5	Homo sapiens

Cloned (Comment)

Organism

the gene encoding human COQ5 spans to 26 kb on chromosome 12q24.31 and is comprised of seven exons, HEK-293 cells are co-transfected with the pCOQ5-myc and pCOQ4-V5, expression of a COQ5-GFP construct in HeLa cells, construction of a hybrid yeast-human COQ5 (yhCOQ5) gene by amplifying a 5' segment of yCOQ5, corresponding to the mitochondrial targeting region (encoding aa 1-54) and the 3' of human COQ5

Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	complementation of yeast coq5 point and null mutants by expression of the human enzyme. Stabilization of the CoQ synthome within coq5 point mutants or by overexpression of COQ8 in coq5 null mutants permits the human COQ5 homologue to partially restore coq5 mutant growth on respiratory media and Q6 content. Human and Escherichia coli Coq5 homologues expressed in yeast retain C-methyltransferase activity but are capable of rescuing the coq5 yeast mutants only when the CoQ-synthome is assembled	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	the COQ5 polypeptide is associated with the mitochondrial inner membrane on the matrix side	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q5HYK3	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
additional information	human COQ5 RNA is expressed in all tissues	Homo sapiens	-
skin fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
COQ5	-	Homo sapiens
Coq5 C-methyltransferase	-	Homo sapiens
COQ5 methyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	in humans, mutations in several COQ genes cause primary Q deficiency, and a decrease in coenzyme Q biosynthesis is associated with mitochondrial, cardiovascular, kidney and neurodegenerative diseases	Homo sapiens
physiological function	enzyme Coq5 catalyzes the only C-methylation involved in the biosynthesis of coenzymeQ(Q or ubiquinone) in humans	Homo sapiens