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:128674252-128726533 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human OCRL

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(4)
 

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: (26 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 Type	Results
RNA in situ	94
Northern blot	8
Western blot	14
RT-PCR	7
RNase protection	4

cDNA source data(112)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(115) Genomic(1) cDNA(112) Primer pair(1) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000017566 (Evidence)
Ensembl Gene Model	ENSMUSG00000001173 (Evidence)
Entrez Gene	320634 (Evidence)
UniGene	210343
DFCI	TC1575639, TC1588148, TC1596475, TC1597570
DoTS	DT.101274882, DT.101394046, DT.40168277, DT.522771, DT.55167650, DT.97332473
NIA Mouse Gene Index	U019831, U112182
EC	3.1.3.36
Consensus CDS Project	CCDS40957.1
International Mouse Knockout Project Status	Ocrl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017566	VEGA Gene Model | MGI Sequence Detail	53482	C57BL/6J
transcript	OTTMUST00000042689	VEGA | MGI Sequence Detail	5253	Not Applicable
polypeptide	OTTMUSP00000019179	VEGA | MGI Sequence Detail	900	Not Applicable

All sequences(62) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(143 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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