Version: 8.0.0
Date: Tue Jan 28 2025
RPE65
Homo sapiensHGNC:10294
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

RPE65

Species
Homo sapiens
Symbol
RPE65
Name
retinoid isomerohydrolase RPE65
Synonyms
  • all-trans-retinyl-palmitate hydrolase
  • BCO family, member 3
Biotype
protein coding gene
Automated Description
Enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity and isomerase activity. Involved in detection of light stimulus involved in visual perception; retina homeostasis; and terpenoid metabolic process. Located in endoplasmic reticulum membrane. Implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Biomarker of basal cell carcinoma and squamous cell carcinoma.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10543
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          RPE65 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            RPE65 role
            RPE65 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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