RPE65

RPE65
Identifiers
Aliases	RPE65, BCO3, LCA2, RP20, mrd12, sretinal pigment epithelium-specific protein 65kDa, retinal pigment epithelium specific protein 65, retinoid isomerohydrolase
External IDs	MGI: 98001 HomoloGene: 20108 GeneCards: RPE65
Gene location (Human) Chr. Chromosome 1 (human) Band 1p31.3 Start 68,428,822 bp End 68,449,959 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band n/a Start 159,599,175 bp End 159,625,321 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • retinal isomerase activity • phosphatidylcholine binding • cardiolipin binding • phosphatidylserine binding • isomerase activity • metal ion binding • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen • hydrolase activity • all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity • all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity Cellular component • cytoplasm • organelle membrane • cell body • membrane • intracellular membrane-bounded organelle • plasma • endoplasmic reticulum Biological process • insulin receptor signaling pathway • response to light stimulus • response to stimulus • retinol metabolic process • regulation of rhodopsin gene expression • detection of light stimulus involved in visual perception • retinoid metabolic process • retinal metabolic process • retina morphogenesis in camera-type eye • retina homeostasis • retina development in camera-type eye • circadian rhythm • vitamin A metabolic process • camera-type eye development • oxidation-reduction process • neural retina development • visual perception • cellular response to electrical stimulus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6121	19892
Ensembl	ENSG00000116745	ENSMUSG00000028174
UniProt	Q16518	Q91ZQ5
RefSeq (mRNA)	NM_000329	NM_029987
RefSeq (protein)	NP_000320	NP_084263
Location (UCSC)	Chr 1: 68.43 – 68.45 Mb	Chr 1: 159.6 – 159.63 Mb
PubMed search

6121

19892

ENSG00000116745

ENSMUSG00000028174

Q16518

Q91ZQ5

NM_000329

NM_029987

NP_000320

NP_084263

Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the RPE65 gene. RPE65 is located in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.

RPE65 is a critical enzyme in the vertebrate visual cycle found in both rods and cones. The photoisomerization of 11-cis-retinal to all-trans-retinal initiates the phototransduction pathway through which the brain detects light. All-trans-retinol is not and therefore must be reconverted to 11-cis-retinal before it can recombine with opsin to form an active visual pigment. RPE65 reverses the photoisomerization by converting an all-trans-retinyl ester to 11-cis-retinol. Most commonly, the ester substrate is retinyl palmitate. The other enzymes of the visual cycle complete the reactions necessary to oxidize and esterify all-trans-retinol to a retinyl ester (RPE65's substrate) and to oxidize 11-cis-retinol to 11-cis-retinal (the required photoactive visual pigment component).

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Wikipedia