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Literature summary extracted from
- 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.
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 | 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 |
| 3.1.1.64 | 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
| EC Number | General Stability | Organism |
|---|---|---|
| 3.1.1.64 | 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
| EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|---|
| 3.1.1.64 | cytosol | about 30% of total enzyme is found in the cytosol | Homo sapiens | 5829 | - |
| 3.1.1.64 | membrane | the wild type enzyme predominantly exists in the membrane (60%) | 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 |
|---|
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 | - |
? |  |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 3.1.1.64 | all-trans-retinyl-palmitate hydrolase | - |
Homo sapiens |
| 3.1.1.64 | retinol hydrolase (ambiguous) | - |
Homo sapiens |
| 3.1.1.64 | Rpe65 | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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