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PMID:16096063
| Citation |
Jin, M, Li, S, Moghrabi, WN, Sun, H and Travis, GH (2005) Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell 122:449-59 |
|---|---|
| Abstract |
The first event in light perception is absorption of a photon by an opsin pigment, which induces isomerization of its 11-cis-retinaldehyde chromophore. Restoration of light sensitivity to the bleached opsin requires chemical regeneration of 11-cis-retinaldehyde through an enzymatic pathway called the visual cycle. The isomerase, which converts an all-trans-retinyl ester to 11-cis-retinol, has never been identified. Here, we performed an unbiased cDNA expression screen to identify this isomerase. We discovered that the isomerase is a previously characterized protein called Rpe65. We confirmed our identification of the isomerase by demonstrating catalytic activity in mammalian and insect cells that express Rpe65. Mutations in the human RPE65 gene cause a blinding disease of infancy called Leber congenital amaurosis. Rpe65 with the Leber-associated C330Y and Y368H substitutions had no isomerase activity. Identification of Rpe65 as the isomerase explains the phenotypes in rpe65-/- knockout mice and in humans with Leber congenital amaurosis. |
| Links |
PubMed PMC2748856 Online version:10.1016/j.cell.2005.06.042 |
| Keywords |
Animals; Carrier Proteins; Catalysis; Cattle; Cell Line; DNA, Complementary/genetics; Eye Proteins/chemistry; Eye Proteins/genetics; Gene Expression Regulation, Enzymologic; Humans; Mice; Mice, Knockout; Molecular Structure; Mutation; Optic Atrophy, Hereditary, Leber/enzymology; Optic Atrophy, Hereditary, Leber/genetics; Phenotype; Pigment Epithelium of Eye/chemistry; cis-trans-Isomerases/chemistry; cis-trans-Isomerases/genetics |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0004744: retinal isomerase activity |
ECO:0000314: |
F |
Figure 4,5. Fig. 4 shows the absence of isomerase activity activity in pRPE65-transerase 293T-RC cell homogenates using atROL as substrate and the presence of activity in the same cells using atRP as substrate. pRPE65-transfected likes do show isomerase activity. |
complete | ||||
|
enables |
GO:0004744: retinal isomerase activity |
ECO:0000314: direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
See also
References
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