ZFIN ID: ZDB-GENE-061110-61
Gene Name: oculocerebrorenal syndrome of Lowe
Gene Symbol: ocrl
Previous Names: OCRL1 (1), wu:fi09g03, zgc:152864
Location: Chr: 14 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION
All Expression Data: 6 figures from 3 publications
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
  brain, central nervous system, eye, fin (all 16) expand
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa11582 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17235 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
  • umc5Tg Transgenic Insertion Unknown Unknown DNA
    Targeting reagents: MO1-ocrl (1), MO2-ocrl (1), MO3-ocrl (1), MO4-ocrl (1)
    PHENOTYPE
    Data: 25 figures from 6 publications
    Observed in: apoptotic process, astrocyte, brain, cartilage development (all 56) expand
    DISEASE ASSOCIATED WITH ocrl HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Dent disease Dent disease 2 300555
    oculocerebrorenal syndrome Lowe syndrome 309000
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process endocytosis (more)
    Molecular Function phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (more)
    GO Terms (all 16)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000198 (1)
  • InterPro:IPR000300 (1)
  • InterPro:IPR005135 (1)
  • InterPro:IPR008936 (1)
  • InterPro:IPR031995 (1)
  • PROSITE:PS50238 (1)
  • Pfam:PF00620 (1)
  • Pfam:PF03372 (1)
  • Pfam:PF16726 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA ocrl-001 (1) 5875
     Withdrawn Transcriptsextinct
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIES
    Ab1-ocrl (1)
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM ocrl No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    ocrlContained in: [BAC] CH73-335M24 (1) (order this), DKEY-76I15 (1) (order this)
    ocrlEncodes: [EST] fi09g03
    [cDNA] MGC:152864 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001077764 (1) 5865bp
    Genomic GenBank:FP016208 (1) 127761bp
    Select Tool
    Polypeptide UniProtKB:A0A0R4IPY6 (1) 961aa
    Sequence Clusters UniGene:61271 (1)
    Sequence Information (all 16)
    OTHER ocrl GENE PAGES
  • Gene:777716 (1)
  • VEGA:OTTDARG00000042771 (1)
  • Ensembl(GRCz10):ENSDARG00000078106 (1)
  • ORTHOLOGY for ocrl (Chr: 14)
    Species Symbol Chromosome Accession # Evidence
    Human OCRL X
  • Gene:4952
  • OMIM:300535
  • HGNC:8108
  • Amino acid sequence comparison (3)
    Conserved genome location (synteny) (1)
    Mouse Ocrl X
  • MGI:109589
  • Gene:320634
  • Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    Download Curated Orthology
    CITATIONS (19)