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Ocrl Gene Detail
Summary
  • Symbol
    Ocrl
  • Name
    oculocerebrorenal syndrome of Lowe
  • Synonyms
    9530014D17Rik, OCRL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:109589
    NCBI Gene: 320634
  • Gene Overview
    MyGene.info: OCRL
Location & Maps
more
  • Sequence Map
    ChrX:47912387-47965868 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53482 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 25.43 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    OCRL, OCRL, inositol polyphosphate-5-phosphatase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    OCRL, OCRL, inositol polyphosphate-5-phosphatase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    INPP5F, LOCR, NPHL2, OCRL1, OCRL-1
  • Links
    NCBI Gene ID: 4952
    neXtProt AC: NX_Q01968

  • Chr Location
    Xq25; chrX:129532740-129592556 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 233
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: OCRL
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ocrl mouse models; 2 with human OCRL associations

Human Disease Mouse Models
       Lowe Oculocerebrorenal Syndrome; OCRL   OMIM: 309000 View 2 models
       Dent Disease 2   OMIM: 300555 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    9 phenotypes from multigenic genotypes
    6 phenotype references
  • All Mutations and Alleles
    6
  • Gene trapped
    4
  • Targeted
    2
  • Incidental Mutations
Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017566 VEGA Gene Model | MGI Sequence Detail 53482 C57BL/6J ±  kb
transcript OTTMUST00000042689 VEGA | MGI Sequence Detail 5253 Not Applicable  
polypeptide OTTMUSP00000019179 VEGA | MGI Sequence Detail 900 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    145 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000011594 inositol polyphosphate 5-phosphatase OCRL-1
  • EC
  • InterPro Domains
    IPR005135 Endonuclease/exonuclease/phosphatase
    IPR031995 Inositol polyphosphate 5-phosphatase, clathrin binding domain
    IPR000300 Inositol polyphosphate-related phosphatase
    IPR000198 Rho GTPase-activating protein domain
    IPR008936 Rho GTPase activation protein
Molecular
Reagents
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  • All nucleic 110
    Genomic 1
    cDNA 107
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-39588, MGI:2148040, MGI:2444410
References
more
  • Summaries
    All 35
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 5
    Phenotypes 6
  • Earliest
    J:38344 Nussbaum RL, et al., Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb;99(2):145-50
  • Latest
    J:204566 Gendrel AV, et al., Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Mol Cell Biol. 2013 Aug;33(16):3150-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory