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Details on Person UniProt:Q16518 RPE65
| Class:Id | ReferenceGeneProduct:84013 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-533 added on Fri February 6 2015;initiator methionine:1 for 84013 removed on Fri Nov 03 2023;initiator methionine: for 84013 added on Fri Nov 03 2023;initiator methionine: for 84013 removed on Fri Aug 15 2025;initiator methionine:1 for 84013 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q16518 RPE65 |
| _timestamp | 2025-08-15 22:04:01 |
| chain | initiator methionine:1 chain:2-533 |
| checksum | 7193C93F3325798D |
| comment | FUNCTION Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).CATALYTIC ACTIVITY an all-trans-retinyl ester + H2O = 11-cis-retinol + a fatty acid + H(+)CATALYTIC ACTIVITY lutein = (3R,3'S)-zeaxanthinCATALYTIC ACTIVITY all-trans-retinyl hexadecanoate + H2O = 11-cis-retinol + hexadecanoate + H(+)COFACTOR Binds 1 Fe(2+) ion per subunit.BIOPHYSICOCHEMICAL PROPERTIES Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.INTERACTION Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells.TISSUE SPECIFICITY Retina (at protein level). Retinal pigment epithelium specific.PTM Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the carotenoid oxygenase family. |
| description | recommendedName: fullName evidence="41"Retinoid isomerohydrolase ecNumber evidence="29 34"3.1.1.64 alternativeName: All-trans-retinyl-palmitate hydrolase alternativeName: Lutein isomerase alternativeName: fullName evidence="40"Meso-zeaxanthin isomerase ecNumber evidence="33"5.3.3.22 alternativeName: Retinal pigment epithelium-specific 65 kDa protein alternativeName: Retinol isomerase |
| geneName | RPE65 |
| identifier | Q16518 |
| isSequenceChanged | FALSE |
| keyword | Acetylation Cell membrane Cytoplasm Direct protein sequencing Disease variant Endoplasmic reticulum Hydrolase Iron Isomerase Leber congenital amaurosis Lipid metabolism Lipoprotein Membrane Metal-binding Microsome Palmitate Phosphoprotein Proteomics identification Reference proteome Retinitis pigmentosa Sensory transduction Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | RPE65 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9004372] ENSEMBL:ENSG00000116745 RPE65 [Homo sapiens] |
| secondaryIdentifier | RPE65_HUMAN A8K1L0 Q5T9U3 |
| sequenceLength | 533 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:74853] RPE65 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:3006592] RPE65 [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [GroupModifiedResidue:2453906] N-palmitoyl-L-cysteine (palmitoyl group) at 112 |
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No pathways have been reviewed or authored by UniProt:Q16518 RPE65 (84013)
