InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Ocrl

Summary

InnateDB Gene

IDBG-142451.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Ocrl

Gene Name

oculocerebrorenal syndrome of Lowe

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000001173

Encoded Proteins

IDBP-142453

oculocerebrorenal syndrome of Lowe

IDBP-250529

oculocerebrorenal syndrome of Lowe

IDBP-250533

oculocerebrorenal syndrome of Lowe

IDBP-542589

oculocerebrorenal syndrome of Lowe

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000122126:
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:47912387-47965868

Strand

Forward strand

Band

Transcripts

ENSMUST00000001202	ENSMUSP00000001202
ENSMUST00000115020	ENSMUSP00000110672
ENSMUST00000115013	ENSMUSP00000110665
ENSMUST00000142719
ENSMUST00000144664
ENSMUST00000146486
ENSMUST00000154732	ENSMUSP00000122084

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0005515	protein binding
GO:0030675	Rac GTPase activator activity
GO:0048365	Rac GTPase binding

Biological Process

GO:0001701	in utero embryonic development
GO:0007165	signal transduction
GO:0032314	regulation of Rac GTPase activity
GO:0032855	positive regulation of Rac GTPase activity
GO:0042384	cilium assembly
GO:0046856	phosphatidylinositol dephosphorylation

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005794	Golgi apparatus
GO:0005802	trans-Golgi network
GO:0005886	plasma membrane
GO:0005905	coated pit
GO:0030136	clathrin-coated vesicle
GO:0030670	phagocytic vesicle membrane
GO:0031901	early endosome membrane
GO:0070062	extracellular vesicular exosome