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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
  • Gene Overview
    MyGene.info: OCRL
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:47912387-47965868 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 25.43 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    145 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:47912387-47966428 (.)
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
    11
  • Human Ortholog
    OCRL, OCRL, inositol polyphosphate-5-phosphatase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    INPP5F, LOCR, NPHL2, OCRL1, OCRL-1
  • Links
    NCBI Gene ID: 4952
    neXtProt AC: NX_Q01968
    UniProt: Q01968

  • Chr Location
    Xq26.1; chrX:129532737-129592561 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
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
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    9 phenotypes from multigenic genotypes
    6 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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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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 111
    Genomic 1
    cDNA 108
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-39588, MGI:2148040, MGI:2444410
References
more
  • Summaries
    All 39
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 7
    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:245876 Rohacek AM, et al., ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. Dev Cell. 2017 Nov 06;43(3):318-331.e5

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
11/06/2018
MGI 6.13
The Jackson Laboratory