RPE65

RPE65
Identifiers
Aliases	RPE65, BCO3, LCA2, RP20, mrd12, sretinal pigment epithelium-specific protein 65kDa, retinal pigment epithelium specific protein 65, retinoid isomerohydrolase, p63, retinoid isomerohydrolase RPE65
External IDs	OMIM: 180069; MGI: 98001; HomoloGene: 20108; GeneCards: RPE65; OMA:RPE65 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	68,449,954 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	159,330,958 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; testicle; ; optic nerve; ; Epithelium of choroid plexus; ; Hypothalamus; ; substantia nigra; ; lower lobe of lung; ; C1 segment; ; seminal vesicula; ; ventricular zone;
	Top expressed in
	retinal pigment epithelium; ; ciliary body; ; embryo; ; epithelium of lens; ; embryo; ; iris; ; dorsal striatum; ; neural layer of retina; ; superior frontal gyrus; ; cornea;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphatidylcholine binding; cardiolipin binding; phosphatidylserine binding; 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; retinal isomerase activity; isomerase activity; retinol isomerase activity;
Cellular component	cytoplasm; organelle membrane; cell body; membrane; intracellular membrane-bounded organelle; plasma membrane; endoplasmic reticulum; endoplasmic reticulum membrane;
Biological process	insulin receptor signaling pathway; response to light stimulus; response to stimulus; retinol metabolic process; 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; neural retina development; visual perception; cellular response to electrical stimulus; zeaxanthin biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	6121
	19892
	ENSG00000116745
	ENSMUSG00000028174
	Q16518
	Q91ZQ5
	NM_000329
	NM_029987
	NP_000320
	NP_084263
	Wikidata
View/Edit Human	View/Edit Mouse

Retinal pigment epithelium-specific 65 kDa protein (also known as RPE65) is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed 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.