BRENDA - Enzyme Database show

Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity

Takahashi, Y.; Chen, Y.; Moiseyev, G.; Ma, J.X.; J. Biol. Chem. 281, 21820-21826 (2006)

Data extracted from this reference:

Cloned(Commentary)
EC Number
Commentary
Organism
3.1.1.64
expressed in QBI-293A cells
Homo sapiens
Engineering
EC Number
Amino acid exchange
Commentary
Organism
3.1.1.64
R91W
the mutation from patients with retinal dystrophies decreases the stability of RPE65 protein and abolishes its isomerohydrolase activity. The mutant shows significantly decreased protein levels but unchanged mRNA levels and has a half-life of less than 2 h when expressed in 293A cells compared with the wild type
Homo sapiens
3.1.1.64
Y368H
the mutation from patients with retinal dystrophies decreases the stability of RPE65 protein and abolishes its isomerohydrolase activity. The mutant shows significantly decreased protein levels but unchanged mRNA levels and has a half-life of less than 6 h when expressed in 293A cells compared with the wild type
Homo sapiens
General Stability
EC Number
General Stability
Organism
3.1.1.64
wild type RPE65 is a fairly stable protein, with an apparent half-life longer than 10 h, when expressed in 293A cells
Homo sapiens
Localization
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
3.1.1.64
cytosol
about 30% of total enzyme is found in the cytosol
Homo sapiens
5829
-
3.1.1.64
membrane
the wild type enzyme predominantly exists in the membrane (60%)
Homo sapiens
16020
-
Organism
EC Number
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
3.1.1.64
Homo sapiens
-
-
-
Source Tissue
EC Number
Source Tissue
Commentary
Organism
Textmining
Substrates and Products (Substrate)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
3.1.1.64
all-trans-retinyl ester + H2O
-
680672
Homo sapiens
11-cis-retinol + a fatty acid
-
-
-
?
Cloned(Commentary) (protein specific)
EC Number
Commentary
Organism
3.1.1.64
expressed in QBI-293A cells
Homo sapiens
Engineering (protein specific)
EC Number
Amino acid exchange
Commentary
Organism
3.1.1.64
R91W
the mutation from patients with retinal dystrophies decreases the stability of RPE65 protein and abolishes its isomerohydrolase activity. The mutant shows significantly decreased protein levels but unchanged mRNA levels and has a half-life of less than 2 h when expressed in 293A cells compared with the wild type
Homo sapiens
3.1.1.64
Y368H
the mutation from patients with retinal dystrophies decreases the stability of RPE65 protein and abolishes its isomerohydrolase activity. The mutant shows significantly decreased protein levels but unchanged mRNA levels and has a half-life of less than 6 h when expressed in 293A cells compared with the wild type
Homo sapiens
General Stability (protein specific)
EC Number
General Stability
Organism
3.1.1.64
wild type RPE65 is a fairly stable protein, with an apparent half-life longer than 10 h, when expressed in 293A cells
Homo sapiens
Localization (protein specific)
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
3.1.1.64
cytosol
about 30% of total enzyme is found in the cytosol
Homo sapiens
5829
-
3.1.1.64
membrane
the wild type enzyme predominantly exists in the membrane (60%)
Homo sapiens
16020
-
Source Tissue (protein specific)
EC Number
Source Tissue
Commentary
Organism
Textmining
Substrates and Products (Substrate) (protein specific)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
3.1.1.64
all-trans-retinyl ester + H2O
-
680672
Homo sapiens
11-cis-retinol + a fatty acid
-
-
-
?