TARGETID

T17502

FORMERID

TTDI02295

UNIPROID

RPE65_HUMAN

TARGNAME

Retinal pigment epithelium protein (RPE65)

GENENAME

RPE65

TARGTYPE

Clinical trial target

SYNONYMS

Retinol isomerase; Retinoid isomerohydrolase; Retinal pigment epithelium-specific 65 kDa protein; Meso-zeaxanthin isomerase; Lutein isomerase; All-trans-retinyl-palmitate hydrolase

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. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid. 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).

BIOCLASS

Carboxylic ester hydrolase

ECNUMBER

EC 3.1.1.64

SEQUENCE

MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS

DRUGINFO

AAV2-hRPE65v2

DRUGINFO

Emixustat

DRUGINFO

AAV-RPE65

DRUGINFO

Leber's congenital amaurosis gene therapy

DRUGINFO

TgAAG76

KEGGPATH

hsa00830:Retinol metabolism

WIKIPATH

WP2776:Visual phototransduction

WIKIPATH

WP716:Vitamin A and Carotenoid Metabolism

WHIZPATH

PW000164:Retinol Metabolism