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
oculocerebrorenal syndrome of Lowe
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
trans-Golgi Network Vesicle Budding pathway
Signaling by Rho GTPases pathway
Synthesis of IP2, IP, and Ins in the cytosol pathway
Signal Transduction pathway
Synthesis of PIPs at the Golgi membrane pathway
Clathrin derived vesicle budding pathway
Rho GTPase cycle pathway
Golgi Associated Vesicle Biogenesis pathway
PI Metabolism pathway
Phospholipid metabolism pathway
Inositol phosphate metabolism pathway
Metabolism pathway
Membrane Trafficking pathway
Synthesis of IP3 and IP4 in the cytosol pathway
KEGG
Inositol phosphate metabolism pathway
Phosphatidylinositol signaling system pathway
INOH
Inositol phosphate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.126357
RefSeq NM_000276 NM_001587 XM_005262421 XM_005262422 XM_006724760 XM_006724761
HUGO
OMIM
CCDS CCDS35393 CCDS35394
HPRD 02395
IMGT
EMBL
GenPept
RNA Seq Atlas