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Literature summary for 3.1.1.64 extracted from

  • Nikolaeva, O.; Takahashi, Y.; Moiseyev, G.; Ma, J.X.
    Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65 (2010), Biochem. Biophys. Res. Commun., 391, 1757-1761.
    View publication on PubMedView publication on EuropePMC
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
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 Homo sapiens
E417D 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
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 Homo sapiens
E417Q 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

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-
cytosol wild type RPE65 is present at a lower level in the cytosolic fraction Homo sapiens 5829
-
membrane the wild type enzyme is predominantly present in the membrane fraction Homo sapiens 16020
-
membrane wild type RPE65 is predominantly present in the membrane fraction Homo sapiens 16020
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
QBI-293A cell
-
 Homo sapiens
-

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
-
 ?
an all-trans-retinyl ester + H2O
-
 Homo sapiens 11-cis-retinol + a fatty acid
-
 ?

Synonyms

Synonyms Comment Organism
Retinoid isomerase
-
 Homo sapiens
Rpe65
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments Homo sapiens