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OCRL

CANCER ATLAS

Gene description

 Oculocerebrorenal syndrome of Lowe

Protein class

 Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA012495

GENE INFORMATION

Gene name

 OCRL (HGNC Symbol)

Synonyms

 OCRL1

Description

 Oculocerebrorenal syndrome of Lowe (HGNC Symbol)

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]

Chromosome

 X

Cytoband

 q26.1

Chromosome location (bp)

 129539849 - 129592561

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000122126 (version 83.38)

Entrez gene

 4952

UniProt

 Q01968 (UniProt - Evidence at protein level)

neXtProt

 NX_Q01968

Antibodypedia

 OCRL antibodies

PROTEIN BROWSER
OCRL-001
OCRL-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OCRL-001
ENSP00000360154
ENST00000371113
Q01968 [Direct mapping]
Inositol polyphosphate 5-phosphatase OCRL-1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001701 [in utero embryonic development]
GO:0001750 [photoreceptor outer segment]
GO:0004439 [phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
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: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:0030136 [clathrin-coated vesicle]
GO:0030670 [phagocytic vesicle membrane]
GO:0031901 [early endosome membrane]
GO:0042384 [cilium assembly]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0043647 [inositol phosphate metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0048365 [Rac GTPase binding]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0052745 [inositol phosphate phosphatase activity]
GO:0070062 [extracellular exosome]
Show all
 901 aa
104.2 kDa 		No 0
OCRL-002
ENSP00000349635
ENST00000357121
Q01968 [Direct mapping]
Inositol polyphosphate 5-phosphatase OCRL-1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0004439 [phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
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: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:0030136 [clathrin-coated vesicle]
GO:0030670 [phagocytic vesicle membrane]
GO:0031901 [early endosome membrane]
GO:0042384 [cilium assembly]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0043647 [inositol phosphate metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0048365 [Rac GTPase binding]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0052745 [inositol phosphate phosphatase activity]
GO:0070062 [extracellular exosome]
Show all
 893 aa
103.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.