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Literature summary for 3.1.1.64 extracted from

  • Takahashi, Y.; Chen, Y.; Moiseyev, G.; Ma, J.X.
    Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity (2006), J. Biol. Chem., 281, 21820-21826.
    View publication on PubMed
Search for more literature for 3.1.1.64

Cloned(Commentary)

Cloned (Comment) Organism
expressed in QBI-293A cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
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
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

General Stability Organism
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

Localization Comment Organism GeneOntology No. Textmining
cytosol about 30% of total enzyme is found in the cytosol Homo sapiens 5829
-
membrane the wild type enzyme predominantly exists in the membrane (60%) Homo sapiens 16020
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
all-trans-retinyl ester + H2O
-
 Homo sapiens 11-cis-retinol + a fatty acid
-
 ?

Synonyms

Synonyms Comment Organism
all-trans-retinyl-palmitate hydrolase
-
 Homo sapiens
retinol hydrolase (ambiguous)
-
 Homo sapiens
Rpe65
-
 Homo sapiens