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1.1.1.300: NADP-retinol dehydrogenase

This is an abbreviated version!
For detailed information about NADP-retinol dehydrogenase, go to the full flat file.

Word Map on EC 1.1.1.300

Reaction

retinol
+
NADP+
=
retinal
+
NADPH
+
H+

Synonyms

aldehyde dehydrogenase, ALDH, all-trans retinal reductase, all-trans-retinaldehyde reductase, all-trans-retinol dehydrogenase, CG2065, CG2070, CG30491, CG3842, DHRS3, EC 5.2.1.3, hRDH5, hRoDH, More, mouse RDH11, mRDH11, NADP(H)-dependent retinol dehydrogenase/reductase, NADP+-dependent all-trans-retinol dehydrogenase, NADPH-dependent retinal reductase, NDRD, NRDR, NRDRA1, NRDRB1, NRDRB2, peroxisomal NADP(H)-dependent retinol dehydrogenase-reductase, photoreceptor retinol dehydrogenase, photoreceptor-associated retinol dehydrogenase, photoreceptor-specific retinol dehydrogenase, prRDH, RalR1, RDH, RDH10, RDH11, Rdh11/12-like 1, Rdh11/12-like 2, Rdh11/12-like 3, RDH12, RDH13, RDH14, RDH8, retinal reductase, retinal reductase 1, retinaldehyde reductase, retinoid dehydrogenase/reductase, retinoid oxidoreductase complex, Retinol dehydrogenase, retinol dehydrogenase 10, retinol dehydrogenase 11, retinol dehydrogenase 12, retinol dehydrogenase 13, retinol dehydrogenase 8, retinol dehydrogenase [NADP+], retinol dehydrogenase-10, retinol dehydrogenases 11-like, retSDR1, RHD8, ROC, SDR16C4, short-chain dehydrogenase/reductase RRD

ECTree

     1 Oxidoreductases
         1.1 Acting on the CH-OH group of donors
             1.1.1 With NAD+ or NADP+ as acceptor
                1.1.1.300 NADP-retinol dehydrogenase

Engineering

Engineering on EC 1.1.1.300 - NADP-retinol dehydrogenase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
C300A
-
the mutant shows no oxidation activity
C300S
-
the mutant shows reduced catalytic efficiency for the oxidation and reduction of all-trans-retinal compared to the wild-type enzyme
E194S
-
the mutant shows 15fold higher catalytic efficiency for the reduction of all-trans-retinal than the wild-type enzyme
E266A
-
the mutant shows no oxidation activity
E457V
-
the mutant shows 7.5fold higher catalytic efficiency for the reduction of all-trans-retinal than the wild-type enzyme
M146G
-
mutation in isoform prRDH1, gain-of-function mutant, enables estrone to bind and be reduced as an additional substrate
M147G
-
mutation in isoform prRDH2, gain-of-function mutant, enables estrone to bind and be reduced as an additional substrate
A269Gfs*2
naturally occuring mutation, the mutant enzyme shows highly reduced activity
C201R
naturally occuring mutation in the active site, inactive mutant
E260R
naturally occuring mutation, a single base pair deletion resulting in a frameshift and premature termination, mutants display a milder late onset (average age of diagnosis is 28.5 years) retinitis pigmentosa (RP) phenotype, with intraretinal bone spicule pigmentation and attenuation of retinal arterioles, phenotypes, overview
E260Rfs*18
naturally occuring mutation, autosomal dominant RDH12 variant, the heterozygous single base pair deletion c.776delG results in a frameshift and premature termination at codon 277, in 19 affected members of a large 6 generation family
F254Lfs*24
naturally occuring mutation c.759del, the mutation results in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant retinitis pigmentosa (RP), phenotypes, overview
G43A/G47A/G49A
site-directed mutagenesis, the cofactor binding mutants, RDH10 G43A/G47A/G49A-HA and DHRS3 G49A/G51A-FLAG, retain the capacity to form complexes with wild-type protein partners
G49A/G51A
site-directed mutagenesis, the cofactor binding mutants, RDH10 G43A/G47A/G49A-HA and DHRS3 G49A/G51A-FLAG, retain the capacity to form complexes with wild-type protein partners
L99I
-
site-directed mutagenesis, about 30% of wild-type activity
M144G
gain-of-function mutant, enables estrone to bind and be reduced as an additional substrate
Q189X
-
mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy
R25G/K26I
-
The mutation allows the enzyme to flip its orientation in the membrane. The mutant is glycosylated in intact cells.
R62X
-
mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy
S175P
-
site-directed mutagenesis, no catalytic activity. Protein is stable and abundantly expressed
Y226C
T49M
inactive. Mutation is associated with Lebr congenital amaurosis. Mutant is not able to detoxify 4-hydroxynonenal in cells
additional information