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Literature summary 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

Cloned(Commentary)

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

Protein Variants

EC Number Protein Variants Comment 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 Homo sapiens
3.1.1.64 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
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 Homo sapiens
3.1.1.64 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

EC Number Localization Comment Organism GeneOntology No. Textmining
3.1.1.64 cytosol
-
 Homo sapiens 5829
-
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 Homo sapiens 16020
-
3.1.1.64 membrane wild type RPE65 is predominantly present in the membrane fraction Homo sapiens 16020
-

Organism

EC Number Organism UniProt Comment Textmining
3.1.1.64 Homo sapiens
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
3.1.1.64 Retinoid isomerase
-
 Homo sapiens
3.1.1.64 Rpe65
-
 Homo sapiens

General Information

EC Number General Information Comment 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