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ZIRC
ZFIN ID: ZDB-GENE-040426-1717
Gene Name: retinoid isomerohydrolase RPE65 a
Gene Symbol: rpe65a    Nomenclature History

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Previous Names: rpepa (1), zgc:73213

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 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 the endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Is expressed in head and visual system. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
Genome Resources: Alliance (1),  Gene:393724 (1),  Ensembl(GRCz11):ENSDARG00000007480 (2)
GENE EXPRESSION
All Expression Data: 16 figures from 8 publications
Directly Submitted Expression Data: 7 figures (5 images) from Thisse et al., 2004 [MGC:73213]
Wild-type Stages, Structures: Segmentation:14-19 somites (16.0h-19.0h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa16919 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa30810 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44520 Point Mutation Unknown Unknown ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-rpe65a N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH rpe65a 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 rpe65a 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 17)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR004294 (1)
  • Pfam:PF03055 (1)
  • EC:5.3.3.22 (1)
  • TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA rpe65a-201 (1)    Ensembl 1744
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM rpe65a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(rpe65a:EGFP) rpe65a EGFP Danio rerio 1 1
    tg(rpe65a:ntr-egfp) rpe65a EGFPNTR Danio rerio 1 1
    MARKER RELATIONSHIPS
    rpe65a Contained in: [BAC] CH73-140J24 (1) (order this)
    rpe65a Encodes: [cDNA] MGC:73213 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_200751 (1) 1732 bp
    Genomic GenBank:FP102801 (1) 109425 bp
    Select Tool
    Polypeptide UniProtKB:Q6PBW5 (1) 531 aa
    Sequence Clusters UniGene:12451 (1)
    Sequence Information (all 12)
    ORTHOLOGY for rpe65a ( Chr: 2 )
    CITATIONS (39)