BRENDA - Enzyme Database
show all sequences of 1.1.1.315

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus

Liden, M.; Romert, A.; Tryggvason, K.; Persson, B.; Eriksson, U.; J. Biol. Chem. 276, 49251-49257 (2001)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
mutations in gene RDH5 are associated with fundus albipunctatus, an autosomal recessive eye disease. Characterization of 11 mutants shows that all RDH5 mutants show decreased protein stability and subcellular mislocalization and, in most cases, loss of enzymatic activity in vitro and in vivo. The mutated enzymes, in a transdominant-negative manner, influence the in vivo enzymatic properties of functional variants of the enzyme. Under certain conditions, nonfunctional alleles act in a dominant-negative way on functional but relatively unstable mutated alleles. In heterozygous individuals carrying one wild-type allele, the disease is recessive, probably due to the stability of the wild-type enzyme
Homo sapiens
Cloned(Commentary)
Cloned (Commentary)
Organism
expression in Cos-1 cells
Homo sapiens
Crystallization (Commentary)
Crystallization (Commentary)
Organism
modeling of the amino acid sequence of human RDH5 into the known three-dimensional structure of 17-hydroxysteroid dehydrogenase, Protein Data Bank code 1bhs
Homo sapiens
Engineering
Protein Variants
Commentary
Organism
A294P
naturally occuring mutation, 52% of wild-type activity in cell-reporter assay, active in vitro
Homo sapiens
D128N 
naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay
Homo sapiens
G238W
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
G35S
naturally occuring mutation, 1.7% of wild-type activity in cell-reporter assay
Homo sapiens
L105I
naturally occuring mutation, 1% of wild-type activity in cell-reporter assay
Homo sapiens
L310EV
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
R157W
naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay
Homo sapiens
R280H
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
S73F
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
V212
naturally occuring mutation with 4bp deletion, frame shift mutant with premature stop codon at position 246
Homo sapiens
V264G
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay
Homo sapiens
Localization
Localization
Commentary
Organism
GeneOntology No.
Textmining
endoplasmic reticulum
wild-type. All tested RDH5 mutants, including A294P, show an abnormal perinuclear localization in transfected cells and induce a redistribution of the ER marker calnexin
Homo sapiens
5783
-
Molecular Weight [Da]
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
32000
-
2 * 32000, SDS-PAGE
Homo sapiens
60000
-
chemical cross-linking
Homo sapiens
Organism
Organism
UniProt
Commentary
Textmining
Homo sapiens
Q92781
-
-
Subunits
Subunits
Commentary
Organism
dimer
2 * 32000, SDS-PAGE
Homo sapiens
Synonyms
Synonyms
Commentary
Organism
RDH5
-
Homo sapiens
Application (protein specific)
Application
Commentary
Organism
medicine
mutations in gene RDH5 are associated with fundus albipunctatus, an autosomal recessive eye disease. Characterization of 11 mutants shows that all RDH5 mutants show decreased protein stability and subcellular mislocalization and, in most cases, loss of enzymatic activity in vitro and in vivo. The mutated enzymes, in a transdominant-negative manner, influence the in vivo enzymatic properties of functional variants of the enzyme. Under certain conditions, nonfunctional alleles act in a dominant-negative way on functional but relatively unstable mutated alleles. In heterozygous individuals carrying one wild-type allele, the disease is recessive, probably due to the stability of the wild-type enzyme
Homo sapiens
Cloned(Commentary) (protein specific)
Commentary
Organism
expression in Cos-1 cells
Homo sapiens
Crystallization (Commentary) (protein specific)
Crystallization
Organism
modeling of the amino acid sequence of human RDH5 into the known three-dimensional structure of 17-hydroxysteroid dehydrogenase, Protein Data Bank code 1bhs
Homo sapiens
Engineering (protein specific)
Protein Variants
Commentary
Organism
A294P
naturally occuring mutation, 52% of wild-type activity in cell-reporter assay, active in vitro
Homo sapiens
D128N 
naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay
Homo sapiens
G238W
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
G35S
naturally occuring mutation, 1.7% of wild-type activity in cell-reporter assay
Homo sapiens
L105I
naturally occuring mutation, 1% of wild-type activity in cell-reporter assay
Homo sapiens
L310EV
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
R157W
naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay
Homo sapiens
R280H
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
S73F
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro
Homo sapiens
V212
naturally occuring mutation with 4bp deletion, frame shift mutant with premature stop codon at position 246
Homo sapiens
V264G
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay
Homo sapiens
Localization (protein specific)
Localization
Commentary
Organism
GeneOntology No.
Textmining
endoplasmic reticulum
wild-type. All tested RDH5 mutants, including A294P, show an abnormal perinuclear localization in transfected cells and induce a redistribution of the ER marker calnexin
Homo sapiens
5783
-
Molecular Weight [Da] (protein specific)
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
32000
-
2 * 32000, SDS-PAGE
Homo sapiens
60000
-
chemical cross-linking
Homo sapiens
Subunits (protein specific)
Subunits
Commentary
Organism
dimer
2 * 32000, SDS-PAGE
Homo sapiens
Other publictions for EC
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Synonyms
Temperature Optimum [C]
Temperature Range [C]
Temperature Stability [C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [C] (protein specific)
Temperature Range [C] (protein specific)
Temperature Stability [C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
740740
Sahu
Conditional ablation of retino ...
Homo sapiens, Mus musculus
J. Biol. Chem.
290
27239-27247
2015
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2
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3
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3
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1
1
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724922
Parker
Retinol dehydrogenases (RDHs) ...
Mus musculus
Exp. Eye Res.
91
788-792
2010
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1
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1
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1
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3
3
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690842
Takahashi
Characterization of key residu ...
Homo sapiens
Biochem. J.
419
113-122
2009
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1
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13
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8
1
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2
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692705
Farjo
RDH10 has 11-cis-retinol dehyd ...
Bos taurus, Homo sapiens
Invest. Ophthalmol. Vis. Sci.
50
5089-5097
2009
1
-
1
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2
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2
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5
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1
1
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6
1
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1
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1
2
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2
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2
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1
1
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6
1
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1
1
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687735
Belyaeva
Kinetic analysis of human enzy ...
Homo sapiens
J. Biol. Chem.
283
20299-20308
2008
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1
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3
6
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1
1
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2
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1
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1
9
1
2
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2
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2
3
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3
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9
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1
1
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1
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1
9
1
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692332
Picozzi
Genomic organization and trans ...
Homo sapiens
FEBS Lett.
554
59-66
2003
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1
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9
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9
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715461
Wu
Mapping the ligand binding poc ...
Homo sapiens
J. Biol. Chem.
278
12390-12396
2003
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1
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1
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1
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692700
Wu
Cloning and characterization o ...
Bos taurus, Homo sapiens, Mus musculus
Invest. Ophthalmol. Vis. Sci.
43
3365-3372
2002
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3
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3
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2
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6
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9
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9
1
6
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12
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1
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3
12
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3
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2
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9
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9
1
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1
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715451
Chen
Interaction of 11-cis-retinol ...
Bos taurus
J. Biol. Chem.
276
21098-21104
2001
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-
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1
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1
3
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1
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2
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1
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2
-
-
3
2
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1
1
-
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715455
Liden
Biochemical defects in 11-cis- ...
Homo sapiens
J. Biol. Chem.
276
49251-49257
2001
-
1
1
1
11
-
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1
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2
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2
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1
1
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1
1
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1
11
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1
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2
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1
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716054
Huang
Modulation of the androgenic r ...
Homo sapiens
J. Steroid Biochem. Mol. Biol.
77
129-133
2001
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-
1
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1
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1
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690797
Wang
Activity of human 11-cis-retin ...
Homo sapiens
Biochem. J.
338
23-27
1999
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1
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3
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2
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3
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45
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8
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2
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2
1
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2
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49
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8
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715709
Simon
Intracellular localization and ...
Bos taurus
J. Cell Sci.
112
549-558
1999
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2
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1
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1
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716292
Gonzalez-Fernandez
-
11-cis Retinol dehydrogenase m ...
Homo sapiens
Mol. Vis.
5
XI-XII
1999
-
1
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1
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716309
Yamamoto
Mutations in the gene encoding ...
Homo sapiens
Nat. Genet.
22
188-191
1999
-
1
1
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2
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1
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170681
Mata
Distribution of 11-cis LRAT, 1 ...
Bos taurus
Biochim. Biophys. Acta
1394
16-22
1998
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692942
Su
cDNA cloning, tissue distribut ...
Mus musculus
J. Biol. Chem.
273
17910-17916
1998
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692939
Chai
cDNA cloning and characterizat ...
Mus musculus
J. Biol. Chem.
272
33125-33131
1997
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1
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1
1
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1
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1
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1
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5
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3
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714012
Tsigelny
Structures important in NAD(P) ...
Bos taurus
Biochem. Biophys. Res. Commun.
226
118-127
1996
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1
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1
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715421
Simon
The retinal pigment epithelial ...
Bos taurus
J. Biol. Chem.
270
1107-1112
1995
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1
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1
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