OCRL (OCRL inositol polyphosphate-5-phosphatase)

2006-10-01  

Identity

HGNC
LOCATION
Xq26.1
LOCUSID
ALIAS
Dent-2,INPP5F,LOCR,NPHL2,OCRL-1,OCRL1

Other Information

Locus ID:

NCBI: 4952
MIM: 300535
HGNC: 8108
Ensembl: ENSG00000122126

Variants:

dbSNP: 4952
ClinVar: 4952
TCGA: ENSG00000122126
COSMIC: OCRL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122126ENST00000357121Q01968
ENSG00000122126ENST00000357121A0A2X0TVZ9
ENSG00000122126ENST00000371113Q01968
ENSG00000122126ENST00000646010A0A2R8YF88
ENSG00000122126ENST00000646914A0A2R8YCN4
ENSG00000122126ENST00000647245A0A2R8YG38

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
Synthesis of IP2, IP, and Ins in the cytosolREACTOMER-HSA-1855183
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10204tenofovirChemicalClinicalAnnotationassociatedPD25485598
PA447230HIVDiseaseClinicalAnnotationassociatedPD25485598

References

Pubmed IDYearTitleCitations
177656812007A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.104
217060222011Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.100
169024052006Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.67
159172922005Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.64
219710852011OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.64
195361382009A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.49
192115632009Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.43
124282112002The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.42
251072752014A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.42
225439762012OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.41

Citation

Dessen P

OCRL (OCRL inositol polyphosphate-5-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43386/ocrl