Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-061110-61
Gene Name: oculocerebrorenal syndrome of Lowe
Gene Symbol: ocrl
Previous Names: wu:fi09g03, zgc:152864
Location: Chr: 14   Details
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
MUTANTS AND TARGETED KNOCKDOWNS
Mutant lines: 1 genotype
Alleles: sa11582, sa17235, umc5Tg
Knockdown reagents: MO1-ocrl (1), MO2-ocrl (1), MO3-ocrl (1), MO4-ocrl (1)
PHENOTYPE
Data: 19 figures from 5 publications
Observed in: apoptotic process, astrocyte, brain, cartilage development (all 49) expand

Phenotype of Human Orthologue OMIM Phenotype ID
Dent disease 2 300555
Lowe syndrome 309000
GENE ONTOLOGY
Ontology GO Term
Biological Process brain development (more)
Cellular Component intracellular (more)
Molecular Function phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (more)
GO Terms (all 15)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000198 (1)
  • InterPro:IPR000300 (1)
  • InterPro:IPR005135 (1)
  • InterPro:IPR008936 (1)
  • PROSITE:PS50238 (1)
  • Pfam:PF00620 (1)
  • Pfam:PF03372 (1)
  •  Withdrawn Transcriptsextinct
    GENE PRODUCT DESCRIPTION
    ANTIBODIES
    Ab1-ocrl (1)
    CONSTRUCTS WITH SEQUENCES FROM ocrl No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    ocrl Contained in: [BAC] CH73-335M24 (1) (order this), DKEY-76I15 (1)
    ocrl Encodes: [EST] fi09g03
    [cDNA] MGC:152864 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001077764 (1) 2984 bp
    Genomic GenBank:FP016208 (1) 127761 bp
    Select Tool
    Polypeptide UniProtKB:A0JMC7 (1) 952 aa
    Sequence Clusters UniGene:61271 (1)
    Sequence Information (all 16)
    OTHER ocrl GENE PAGES
  • Gene:777716 (1)
  • Ensembl(Zv9):ENSDARG00000078106 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish ocrl 14  
    Human OCRL X (Xq25)
  • OMIM:300535
  • Gene:4952
  • Mouse Ocrl X ( 25.43 cM)
  • MGI:109589
  • Gene:320634
  • Orthology Details
    CITATIONS (16)