ZFIN ID: ZDB-GENE-050410-16
Gene Name: retinoid isomerohydrolase RPE65 b
Gene Symbol: rpe65b    Nomenclature History

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Previous Names: rpepb (1), 13cIMH (1), si:ch211-198n5.5, wu:fc74c09, zgc:110538

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 8 Mapping Details/Browsers
Description: Predicted to have all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; retinal isomerase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Is expressed in ectoderm; mandibular arch skeleton; nervous system; neural crest cell; and pectoral fin. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
Genome Resources: Alliance (1),  Gene:100002865 (1),  Ensembl(GRCz11):ENSDARG00000094752 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa21239 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21240 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa25390 Point Mutation Unknown Premature Stop ENU
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH rpe65b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Leber congenital amaurosis 2 Alliance Leber congenital amaurosis 2 204100
    retinitis pigmentosa 20 Alliance Retinitis pigmentosa 20 613794
    Retinitis pigmentosa 87 with choroidal involvement 618697
    DISEASE ASSOCIATED WITH rpe65b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process retinoid metabolic process (more)
    Cellular Component endoplasmic reticulum membrane (more)
    Molecular Function hydrolase activity (more)
    GO Terms (all 13)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA rpe65b-201 (1)    Ensembl 1945
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM rpe65b No data available
    MARKER RELATIONSHIPS
    rpe65b Contained in: [BAC] CH211-198N5 (1)
    rpe65b Encodes: [EST] fc74c09
    [cDNA] MGC:110538 (1), MGC:162449 (1), MGC:174561 (1), MGC:191430 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001089433 (1) 1752 nt
    Genomic GenBank:CR759968 (1) 182233 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8QAN0 (1) 567 aa
    Sequence Information (all 31)
    ORTHOLOGY for rpe65b ( Chr: 8 )
    CITATIONS (28)