Cloned (Comment) | Organism |
---|---|
expressed in QBI-293A cells | Homo sapiens |
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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
QBI-293A cell | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
Retinoid isomerase | - |
Homo sapiens |
Rpe65 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments | Homo sapiens |