BRENDA - Enzyme Database show

Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65

Nikolaeva, O.; Takahashi, Y.; Moiseyev, G.; Ma, J.X.; Biochem. Biophys. Res. Commun. 391, 1757-1761 (2010)

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
E417D
the mutation alters the sub-cellular localization of the protein from membrane to the cytosol. The mutant show 5fold reduced activity compared to the wild type enzyme; the mutation decreases the stability of RPE65 and alters its sub-cellular localization, the mutant retains partial enzymatic activity (the amount of 11-cis retinol generated by E417D is approximately 5fold lower than the amount generated by wild type RPE65)
Homo sapiens
3.1.1.64
E417Q
the mutation decreases the stability of RPE65 and alters its sub-cellular localization, the mutant abolishes isomerohydrolase activity. The mutation causes blindness in Leber congenital amaurosis patients; the mutation is identified in patients with Leber congenital amaurosis, decreases the stability of RPE65, alters its sub-cellular localization from membrane to the cytosol and abolishes isomerohydrolase activity
Homo sapiens
Localization
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
3.1.1.64
cytosol
; wild type RPE65 is present at a lower level in the cytosolic fraction
Homo sapiens
5829
-
3.1.1.64
membrane
the wild type enzyme is predominantly present in the membrane fraction; wild type RPE65 is predominantly present in the membrane fraction
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
3.1.1.64
QBI-293A cell
-
Homo sapiens
-
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
-
714020
Homo sapiens
11-cis-retinol + a fatty acid
-
-
-
?
3.1.1.64
an all-trans-retinyl ester + H2O
-
714020
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
E417D
the mutation alters the sub-cellular localization of the protein from membrane to the cytosol. The mutant show 5fold reduced activity compared to the wild type enzyme; the mutation decreases the stability of RPE65 and alters its sub-cellular localization, the mutant retains partial enzymatic activity (the amount of 11-cis retinol generated by E417D is approximately 5fold lower than the amount generated by wild type RPE65)
Homo sapiens
3.1.1.64
E417Q
the mutation decreases the stability of RPE65 and alters its sub-cellular localization, the mutant abolishes isomerohydrolase activity. The mutation causes blindness in Leber congenital amaurosis patients; the mutation is identified in patients with Leber congenital amaurosis, decreases the stability of RPE65, alters its sub-cellular localization from membrane to the cytosol and abolishes isomerohydrolase activity
Homo sapiens
Localization (protein specific)
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
3.1.1.64
cytosol
; wild type RPE65 is present at a lower level in the cytosolic fraction
Homo sapiens
5829
-
3.1.1.64
membrane
the wild type enzyme is predominantly present in the membrane fraction; wild type RPE65 is predominantly present in the membrane fraction
Homo sapiens
16020
-
Source Tissue (protein specific)
EC Number
Source Tissue
Commentary
Organism
Textmining
3.1.1.64
QBI-293A cell
-
Homo sapiens
-
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
-
714020
Homo sapiens
11-cis-retinol + a fatty acid
-
-
-
?
3.1.1.64
an all-trans-retinyl ester + H2O
-
714020
Homo sapiens
11-cis-retinol + a fatty acid
-
-
-
?
General Information
EC Number
General Information
Commentary
Organism
3.1.1.64
physiological function
RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments
Homo sapiens
General Information (protein specific)
EC Number
General Information
Commentary
Organism
3.1.1.64
physiological function
RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments
Homo sapiens