RPE65
Sign in to saveAlso known as BCO3, LCA2, RP20, mRPE65, rd12, sRPE65, retinal pigment epithelium-specific protein 65kDa, retinal pigment epithelium specific protein 65
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.
Gene data
RPE65- Name
- retinoid isomerohydrolase RPE65
- Type
- protein-coding
- Position
- 68,428,822–68,451,103 (−)
- Aliases
- BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
- Ensembl
- ENSG00000116745
- RefSeq RNA
- NM_000329.3, NM_001406853.1, NM_001406856.1, NM_001406857.1, NM_001406859.1
- RefSeq protein
- NP_000320.1, NP_001393782.1, NP_001393785.1, NP_001393786.1, NP_001393788.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
retinoid isomerohydrolase RPE65
- Symbol
- RPE65
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:68,428,822-68,451,103
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~9 min read
Encyclopedic overview
14 sectionsContents
- Function
- Structure
- Active site structure
- Membrane interactions
- Conservation
- Soluble RPE65 (sRPE65)
- Mechanism
- O-Alkyl cleavage
- Alternate S<sub>N</sub>2 mechanism
- Clinical significance
- See also
- References
- Further reading
- External links
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.
Mutations in the RPE65 gene have been associated with Leber's congenital amaurosis type 2 (LCA2) and retinitis pigmentosa (RP).
Excerpted from Wikipedia’s “RPE65” article, available under the CC BY-SA 4.0 licence.