Literature summary for 1.1.1.315 extracted from

Yamamoto, H.; Simon, A.; Eriksson, U.; Harris, E.; Berson, E.L.; Dryja, T.P.
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999), Nat. Genet., 22, 188-191.

Search for more literature for 1.1.1.315

Application

Application	Comment	Organism
medicine	evaluation of patients with hereditary retinal diseases featuring subretinal spots, i.e. retinitis punctata albescens and fundus albipunctatus, and patients with typical dominant or recessive retinitis pigmentosa for mutations in RDH5. Mutations are found only in two unrelated patients, both with fundus albipunctatus. Mutations segregate with disease in the respective families. Recombinant mutant 11-cis retinol dehydrogenases have reduced activity compared with recombinant enzyme with wild-type sequence	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Cos-1 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G238W	natural mutation identiied in patient with fundus albipunctatus, about 10% residual activity	Homo sapiens
S73F	natural mutation identiied in patient with fundus albipunctatus, about 20% residual activity	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
0.0067	-	11-cis-retinol-[cellular retinaldehyde binding protein]	wild-type, pH not specified in the publication, temperature not specified in the publication	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q92781	-	-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
8.4	-	wild-type, pH not specified in the publication, temperature not specified in the publication	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
11-cis-retinal-[cellular retinaldehyde binding protein] + NADH + H+	in presence of excess NADH, wild-type catalyzes the reduction of 11-cis-retinal	Homo sapiens	11-cis-retinol-[cellular retinaldehyde binding protein] + NAD+	-	r
11-cis-retinol-[cellular retinaldehyde binding protein] + NAD+	-	Homo sapiens	11-cis-retinal-[cellular retinaldehyde binding protein] + NADH + H+	-	r

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Release 2023.1 (January 2023)