InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: OCRL

Summary

InnateDB Gene

IDBG-85566.6

Last Modified

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

Gene Symbol

OCRL

Gene Name

oculocerebrorenal syndrome of Lowe

Synonyms

INPP5F; LOCR; NPHL2; OCRL-1; OCRL1

Species

Homo sapiens

Ensembl Gene

ENSG00000122126

Encoded Proteins

IDBP-85570

oculocerebrorenal syndrome of Lowe

IDBP-85574

oculocerebrorenal syndrome of Lowe

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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:129539849-129592561

Strand

Forward strand

Band

q26.1

Transcripts

ENST00000357121	ENSP00000349635
ENST00000371113	ENSP00000360154
ENST00000486673
ENST00000463271

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.

Experimentally validated
Total	34 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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
GO:0052745	inositol phosphate phosphatase activity

Biological Process

GO:0001701	in utero embryonic development
GO:0006629	lipid metabolic process
GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0032314	regulation of Rac GTPase activity
GO:0032855	positive regulation of Rac GTPase activity
GO:0042384	cilium assembly
GO:0043647	inositol phosphate metabolic process
GO:0044281	small molecule metabolic process
GO:0046856	phosphatidylinositol dephosphorylation
GO:0051056	regulation of small GTPase mediated signal transduction

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005795	Golgi stack
GO:0005798	Golgi-associated vesicle
GO:0005802	trans-Golgi network
GO:0005829	cytosol
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