Sequence Detail

ID/Version

Q91ZQ5 A1L3D1 E9QNS6 Q8VHP2 H9KUX9 (UniProt | EBI)

Last sequence update: 2013-12-11
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Retinoid isomerohydrolase; EC=3.1.1.64 {ECO:0000269|PubMed:23407971};AltName: Full=All-trans-retinyl-palmitate hydrolase;AltName: Full=Lutein isomerase;AltName: Full=Meso-zeaxanthin isomerase; EC=5.3.3.22 {ECO:0000250|UniProt

Provider

SWISS-PROT

Sequence

Polypeptide 533 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Rpe65	retinal pigment epithelium 65	61	108	5	19

Sequence references in MGI

J:51293 Redmond TM, et al., Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998 Dec;20(4):344-51
J:66951 Wenzel A, et al., The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration. J Neurosci. 2001 Jan 1;21(1):53-8
J:88920 Boulanger A, et al., Sequence and structure of the mouse gene for RPE65. Mol Vis. 2001 Dec 10;7:283-7
J:104924 Pang JJ, et al., Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis. 2005 Feb 28;11:152-62
J:123283 Wenzel A, et al., RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):534-42
J:194257 Li S, et al., Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase. J Neurosci. 2013 Feb 13;33(7):3178-89
J:250439 Sheridan C, et al., RPE65 and the Accumulation of Retinyl Esters in Mouse Retinal Pigment Epithelium. Photochem Photobiol. 2017 May;93(3):844-848
J:263780 Choi EH, et al., Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Hum Mol Genet. 2018 Jul 1;27(13):2225-2243
J:292577 Li Y, et al., Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. Hum Mutat. 2019 Apr;40(4):426-443