Property Summary

NCBI Gene PubMed Count 77
PubMed Score 160.12
PubTator Score 162.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.485 3.9e-05
lung cancer 1.100 8.3e-03
lung carcinoma 1.300 6.9e-34

Gene RIF (50)

PMID Text
26725203 Authors propose that the precise spatial and temporal activation of Rab35 acts as a major switch for OCRL recruitment on newborn endosomes, post-scission PtdIns(4,5)P2 hydrolysis, and subsequent endosomal trafficking.
26510499 Here we show that OCRL1 is part of the membrane-trafficking machinery operating at the trans-Golgi network (TGN)/endosome interface.
25917196 OCRL mRNA and protein were downregulated in osteoarthritis knee cartilage. OCRL inhibits Rac1 activation in OA.
25305077 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
25143588 Implications of OCRL and TRPV4 in primary cilia function may also shed light on mechanosensation in other organ systems.
25107275 Results indicate that inositol 5-phosphatase OCRL acts as an uncoating factor and that defects in clathrin-mediated endocytosis likely contribute to pathology in patients with OCRL mutations.
24704254 The crystal structures of human OCRL in complex with phosphoinositide substrate analogs revealed a membrane interaction patch likely to assist in sequestering substrates from the lipid bilayer.
24081861 Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA.
23389333 Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified
23153494 Bcl10 was required to locally deliver the vesicular OCRL phosphatase that regulates PI(4,5)P(2) and F-actin turnover, both crucial for the completion of phagosome closure.
22965764 In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes.
22907655 The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
22790198 This article reviewes biophysical and structural work and discuss possible functional implications of the finding that Rab8 binds with the highest affinity to OCRL1 among the Rab proteins tested.[review]
22543976 a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome.
22378746 All seven Dent-causing OCRL mutations examined exhibited alleviation of the inhibitory effect on TRPV6-mediated Ca(2+) transport.
22351770 Through its phosphatase activity, OCRL restricts Listeria monocytogenes invasion by modulating actin dynamics at bacterial internalization sites.
22228094 Lowe syndrome displays characteristics of a ciliopathy; findings reveal a novel cellular role for Ocrl1 in cilia assembly -- Ocrl1 participates in ciliogenesis by contributing to protein trafficking to this organelle in an Rab8/IPIP27-dependent manner
22177125 A recurrent OCRL nonsense mutation was found to be the pathogenic mutation in a Chinese family with Lowe syndrome.
21971085 via its 5-phosphatase activity, OCRL controls early endosome function.
21901156 A role of OCRL1 in junctions of polarized cells may explain the pattern of organs affected in Lowe Syndrome.
21854507 Novel nonsense mutation (c.880G>T) in exon 10 and the novel insertion mutation (c.2626dupA) in exon 24 of the OCRL1 gene lead to Lowe syndrome in two Chinese families.
21706022 the phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) 5-phosphatase OCRL, which is mutated in Lowe syndrome patients, is an effector of the Rab35 GTPase in cytokinesis abscission
21666675 The phenylalanine and histidine (F&H) motif binding site on the RhoGAP domain of OCRL was identified.
21378754 OCRL1 mutation is associated with Lowe syndrome.
21249396 children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe
21233288 Two novel OCRL1-binding proteins, termed inositol polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A and B (also known as Ses1 and 2), that also bind the related 5-phosphatase Inpp5b, were identified.
21225285 These data suggest that the mutations observed in OCRL are the result of two de novo events in early embryogenesis of the mother.
21031565 From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes
20629659 evidence for link between OCRL mutations and primary haemostasis disorders in Lowe syndrome; findings suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in Lowe syndrome
20133602 Two closely related endocytic proteins, Ses1 and Ses2, which interact with OCRL, were identified. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1.
20043897 This multiplex ligation-dependent probe amplification allows rapid and precise OCRL1 gene quantification.
19940034 OCRL1 does not directly modulate endocytosis or postendocytic membrane traffic, and renal manifestations observed in Lowe syndrome patients are downstream consequences of loss of OCRL1 function.
19700499 The homologous phosphatase Inpp5b was unable to complement the Ocrl1-dependent cell migration defect.
19582483 Five novel mutations in the OCRL1 gene were identified among 11 patients with the classical Dent's disease phenotype
19546591 Studies showed that three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent's disease.
19536138 A novel clathrin-binding site in OCRL maps to an unusual clathrin-box motif located in a loop of the PH domain, whose mutations reduce recruitment efficiency of OCRL to coated pits.
19390221 OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
19211563 OCRL1 exists as two functional pools, one participating in clathrin-mediated trafficking events such as endocytosis and another that is much less or not involved in this process
19172411 These data point to a novel role for ocrl1 in agonist-induced calcium release
18500547 There are mutations involving the OCRL1 gene in patients with Lowe syndrome of Indian origin.
18307981 Thus, binding to APPL1 helps localize OCRL at specific cellular sites, and disruption of this interaction may play a role in disease.
18019214 abnormalities in the CLCN5 and OCRL1 genes in Dent's disease [review]
17765681 A role is reported for OCRL in early steps of the endocytic pathway.
17384968 One frame shift mutation and two misssense mutations were identified in three male patients with the Dent disease phenotype.
16902405 rabs play a dual role in regulation of OCRL1, firstly targeting it to the Golgi apparatus and endosomes, and secondly, directly stimulating the 5-phosphatase activity of OCRL1 after membrane recruitment.
16420990 p.Phe259Ser mutation found in a case of Lowe syndrome (amino acid substitution)
15917292 OCRL1 is associated with clathrin-coated transport intermediates operating between the trans-Golgi network (TGN) and endosomes
15829501 suggests that Ocrl1 is active as a PIP2 5-phosphatase in Rac induced membrane ruffles
12915445 OCRL1 interacts with Rac GTPase in the trans-Golgi network.
12428211 The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

AA Sequence

MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEE      1 - 70
TLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKD     71 - 140
KPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLF    141 - 210
VPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELD    211 - 280
LSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMG    281 - 350
KMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL    351 - 420
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSG    421 - 490
KCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMEND    491 - 560
FLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETV    561 - 630
DISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVT    631 - 700
KLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIID    701 - 770
CLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM    771 - 840
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED             841 - 901
//

Text Mined References (80)

PMID Year Title
26824392 2016 Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.
26725203 2016 Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes.
26510499 2016 OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25917196 2015 Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development.
25869668 2015 Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
25305077 2015 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
25143588 2014 Primary cilia signaling mediates intraocular pressure sensation.
25107275 2014 A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
24704254 2014 Structural basis for phosphoinositide substrate recognition, catalysis, and membrane interactions in human inositol polyphosphate 5-phosphatases.
24081861 2014 Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
23389333 2013 Novel OCRL mutations in Chinese children with Lowe syndrome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23153494 2012 The NF-?B signaling protein Bcl10 regulates actin dynamics by controlling AP1 and OCRL-bearing vesicles.
22965764 2012 Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
22907655 2012 The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
22790198 Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome.
22543976 2012 OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
22381590 2012 Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
22378746 2012 Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.
22351770 2012 Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection.
22228094 2012 The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
22177125 2011 [Genetic testing in a Chinese pedigree with Lowe syndrome].
21971085 2011 OCRL controls trafficking through early endosomes via PtdIns4,5P?-dependent regulation of endosomal actin.
21901156 2011 Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
21854507 2012 Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.
21706022 2011 Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.
21666675 2011 Recognition of the F&H motif by the Lowe syndrome protein OCRL.
21378754 2011 A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
21269460 2011 Initial characterization of the human central proteome.
21249396 2011 Clinical and laboratory features of Macedonian children with OCRL mutations.
21233288 2011 The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
21225285 2011 Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.
21031565 2011 From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
20629659 2010 Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
20133602 2010 Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
20043897 2010 Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.
19940034 2010 OCRL1 function in renal epithelial membrane traffic.
19700499 2009 Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
19582483 2009 Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
19546591 2009 Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
19536138 2009 A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
19390221 2009 OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
19211563 2009 Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.
19172411 2009 Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.
19168822 2009 Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
18500547 2008 Mutations in OCRL1 gene in Indian children with Lowe syndrome.
18307981 2008 All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
18019214 2007 [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].
17765681 2007 A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
17384968 2007 OCRL1 mutations in patients with Dent disease phenotype in Japan.
16902405 2006 Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
16420990 [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].
15917292 2005 Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.
15829501 2005 Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.
15772651 2005 The DNA sequence of the human X chromosome.
15627218 2005 Dent Disease with mutations in OCRL1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12915445 2003 Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12428211 2002 The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
10923037 2000 OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
10767176 2000 Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
10639484 2000 Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
9915833 1999 Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain.
9838104 1998 The diversity and possible functions of the inositol polyphosphate 5-phosphatases.
9788721 1998 Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
9682219 1998 Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
9632163 1998 Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
9593760 1998 Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
9430698 1998 Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
9199559 1997 Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
9048911 1997 Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
9038219 1997 Signaling inositol polyphosphate-5-phosphatase. Characterization of activity and effect of GRB2 association.
8504307 1993 Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
7761412 1995 The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.
1897526 1991 Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.
1840503 1991 Beta-COP, a 110 kd protein associated with non-clathrin-coated vesicles and the Golgi complex, shows homology to beta-adaptin.
1321346 1992 The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.