Gene: RPE65 (retinoid isomerohydrolase RPE65) Homo sapiens
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Symbol: RPE65
Name: retinoid isomerohydrolase RPE65
Description: The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: all-trans-retinyl-palmitate hydrolase; BCO family, member 3; BCO3; LCA2; meso-zeaxanthin isomerase; mRPE65; p63; RBP-binding membrane protein; rd12; retinal pigment epithelium specific protein 65; retinal pigment epithelium, 65 kda; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase; retinol isomerase; RP20; RPE65, retinoid isomerohydrolase; sRPE65
Orthologs:
Mus musculus (house mouse) : Rpe65 (retinal pigment epithelium 65)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rpe65 (retinoid isomerohydrolase RPE65)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rpe65 (retinoid isomerohydrolase RPE65)
Pan paniscus (bonobo/pygmy chimpanzee) : RPE65 (retinoid isomerohydrolase RPE65)
Canis lupus familiaris (dog) : RPE65 (retinoid isomerohydrolase RPE65)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rpe65 (retinoid isomerohydrolase RPE65)
Sus scrofa (pig) : RPE65 (retinoid isomerohydrolase RPE65)
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Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,428,822 - 68,450,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37168,894,507 - 68,915,642 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,667,095 - 68,688,230 (-)NCBINCBI36hg18NCBI36
Build 34168,606,465 - 68,627,663NCBI
Celera167,184,748 - 67,205,854 (-)NCBI
Cytogenetic Map1p31.3NCBI
HuRef167,004,313 - 67,025,452 (-)NCBIHuRef
CHM1_1169,009,866 - 69,031,001 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RPE65
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732416
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-05-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.