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Ocrl Gene Detail
Summary
  • Symbol
    Ocrl
  • Name
    OCRL, inositol polyphosphate-5-phosphatase
  • Synonyms
    9530014D17Rik, OCRL1, oculocerebrorenal syndrome of Lowe
  • Feature Type
    protein coding gene
  • IDs
    MGI:109589
    NCBI Gene: 320634
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:47001264-47054745 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 25.43 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1138 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109589
 protein coding gene ChrX:47001264-47055305 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035685
 protein coding gene ChrX:43031127-43084278 (+)
A/J MGP_AJ_G0035668
 protein coding gene ChrX:42899109-42953437 (+)
AKR/J MGP_AKRJ_G0035588
 protein coding gene ChrX:44071167-44126987 (+)
BALB/cJ MGP_BALBcJ_G0035654
 protein coding gene ChrX:42558177-42615612 (+)
C3H/HeJ MGP_C3HHeJ_G0035358
 protein coding gene ChrX:43333240-43393660 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036183
 protein coding gene ChrX:44068740-44123482 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033035
 protein coding gene ChrX:40608405-40663231 (+)
CAST/EiJ MGP_CASTEiJ_G0034649
 protein coding gene ChrX:30923453-30978545 (+)
CBA/J MGP_CBAJ_G0035332
 protein coding gene ChrX:45291359-45351266 (+)
DBA/2J MGP_DBA2J_G0035486
 protein coding gene ChrX:42760718-42815875 (+)
FVB/NJ MGP_FVBNJ_G0035435
 protein coding gene ChrX:42467205-42523820 (+)
LP/J MGP_LPJ_G0035574
 protein coding gene ChrX:43409150-43463680 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035473
 protein coding gene ChrX:46717646-46771964 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036201
 protein coding gene ChrX:42954013-43010618 (+)
PWK/PhJ MGP_PWKPhJ_G0034348
 protein coding gene ChrX:30409525-30465422 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034193
 protein coding gene ChrX:31692127-31749853 (+)
WSB/EiJ MGP_WSBEiJ_G0034793
 protein coding gene ChrX:42580815-42635784 (+)



Homology
more
  • Human Ortholog
    OCRL, OCRL inositol polyphosphate-5-phosphatase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OCRL, OCRL inositol polyphosphate-5-phosphatase
  • Synonyms
    Dent-2, DENT2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
  • Links
    NCBI Gene ID: 4952
    neXtProt AC: NX_Q01968
    UniProt: Q01968

  • Chr Location
    Xq26.1; chrX:129539849-129592561 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human OCRL associations

Human Disease Mouse Models
      
IDs
IDs
 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
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    9 phenotypes from multigenic genotypes
    9 phenotype references
Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    839
  • Tissues
    112
  • cDNA Data
    108
  • Literature Summary
    8
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000001173 Ensembl Gene Model | MGI Sequence Detail 53482 C57BL/6J ±  kb
transcript ENSMUST00000001202 Ensembl | MGI Sequence Detail 5253 Not Applicable  
polypeptide ENSMUSP00000001202 Ensembl | MGI Sequence Detail 900 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 113
    Genomic 1
    cDNA 108
    Primer pair 3
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-39588, MGI:2148040, MGI:2444410
References
more
  • Summaries
    All 48
    Developmental Gene Expression 8
    Diseases 2
    Gene Ontology 10
    Phenotypes 9
  • 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:336347 Wang B, et al., OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring. EMBO Rep. 2021 May 13;:e52173
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory