Literature summary for 1.3.1.94 extracted from

Cantagrel, V.; Lefeber, D.J.; Ng, B.G.; Guan, Z.; Silhavy, J.L.; Bielas, S.L.; Lehle, L.; Hombauer, H.; Adamowicz, M.; Swiezewska, E.; De Brouwer, A.P.; Bluemel, P.; Sykut-Cegielska, J.; Houliston, S.; Swistun, D.; Ali, B.R.; Dobyns, W.B.; Babovic-Vuksanovic, D.; van Bokhoven, H.; Wevers, R.A.; Raetz, C.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder (2010), Cell, 142, 203-217.

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Application

Application	Comment	Organism
medicine	loss of function mutations of the SRD5A3 gene cause a multisystemic syndrome with eye malformations, cerebellar vermis hypoplasia, and psychomotor delay. Plasma from patients shows increased level of polyprenoids	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Saccharomyces cerevisiae and HEK-293T cells	Homo sapiens
expression in Saccharomyces cerevisiae and HEK-293T cells	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H8P0	-	-
Mus musculus	Q9WUP4	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ditrans,polycis-polyprenol + NADPH + H+	-	Homo sapiens	ditrans,polycis-dolichol + NADP+	-	?
ditrans,polycis-polyprenol + NADPH + H+	-	Mus musculus	ditrans,polycis-dolichol + NADP+	-	?

Synonyms

Synonyms	Comment	Organism
SDR5A3	-	Homo sapiens
SDR5A3	-	Mus musculus
steroid 5alpha-reductase type 3	-	Homo sapiens
steroid 5alpha-reductase type 3	-	Mus musculus

General Information

General Information	Comment	Organism
physiological function	enzyme is necessary for the reduction of the alpha-isoprene unit of polyprenols to form dolichols, required for synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation	Homo sapiens
physiological function	Srd5a3 mutation is lethal in mouse and results in an activation of the unfolded protein response pathway	Mus musculus

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Release 2023.1 (January 2023)