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Ocrl
Gene Detail
 Symbol
Name
ID
Ocrl
oculocerebrorenal syndrome of Lowe
MGI:109589
Synonyms 9530014D17Rik, OCRL1
Feature Type protein coding gene
Genetic Map
Chromosome X
25.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:47912387-47965868 bp, + strand
From VEGA annotation of GRCm38

  53482 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:233  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Ocrl

Human
homologs
Human Homolog OCRL, oculocerebrorenal syndrome of Lowe
NCBI Gene ID 4952
neXtProt AC  NX_Q01968
Human Synonyms  INPP5F, LOCR, NPHL2, OCRL1, OCRL-1
Human Chr (Location)  Xq25; chrX:129539849-129592556 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human OCRL
Alleles
and
phenotypes
All alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe.
 
Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process cell projection organization, cilium assembly, ...
Component cell projection, cilium, ...
Function hydrolase activity, phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (127)    Tissues (110)    Images (3)
Theiler Stages: 15, 17, 19, 20, 22, 24, 28
Assay TypeResults
RNA in situ 94
Northern blot 8
Western blot 14
RT-PCR 7
RNase protection 4
cDNA source data(107)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(110) Genomic(1) cDNA(107) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000017566 (Evidence)
Ensembl Gene ModelENSMUSG00000001173 (Evidence)
Entrez Gene320634 (Evidence)
UniGene210343
DFCITC1575639, TC1588148, TC1596475, TC1597570
DoTSDT.101274882, DT.101394046, DT.40168277, DT.522771, DT.55167650, DT.97332473
NIA Mouse Gene IndexU019831, U112182
EC3.1.3.36
Consensus CDS ProjectCCDS40957.1
International Mouse Knockout Project StatusOcrl
Sequences
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 sequences
All sequences(66) RefSeq(6) UniProt(5)
Polymorphisms SNPs within 2kb(145 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005135 Endonuclease/exonuclease/phosphatase
InterPro IPR000300 Inositol polyphosphate-related phosphatase
InterPro IPR000198 Rho GTPase-activating protein domain
InterPro IPR008936 Rho GTPase activation protein
Protein Ontology PR:000011594 inositol polyphosphate 5-phosphatase OCRL-1
References (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:185879 Bothwell SP, et al., Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011 Mar;22(3):443-8
All references(38)
Other
accession IDs
MGD-MRK-39588, MGI:2148040, MGI:2444410

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory