Genomes and Genes
Gene Symbol: INPP5E
Description: inositol polyphosphate-5-phosphatase, 72 kDa
Alias: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, 72 kDa inositol polyphosphate 5-phosphatase, phosphatidylinositol (4,5) bisphosphate 5-phosphatase, phosphatidylinositol 4,5-bisphosphate 5-phosphatase, phosphatidylinositol polyphosphate 5-phosphatase type IV, phosphatidylinositol-4,5-bisphosphate 5-phosphatase
- Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphateX Zhang
Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Biol Chem 273:1574-82. 1998....
- The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphataseX Zhang
Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 92:4853-6. 1995..Deficiency of this enzyme apparently causes the protean manifestations of Lowe syndrome...
- Lowe syndromeMario Loi
Division of Paediatric Neurology, G Brotzu Hospital, Cagliari, Italy
Orphanet J Rare Dis 1:16. 2006..Life span rarely exceeds 40 years...
- Novel OCRL1 mutations in patients with the phenotype of Dent diseaseBoris Utsch
, , Erlangen, Germany
Am J Kidney Dis 48:942.e1-14. 2006..It remains to be elucidated why the various OCRL1 mutations found in patients with Dent 2 disease do not cause cataracts...
- Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificityMitsunori Fukuda
Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba ku, Sendai, Miyagi 980 8578, Japan
Mol Cell Proteomics 7:1031-42. 2008..The interaction of eight of the novel Rab-binding proteins identified (e.g. INPP5E and Cog4) with a specific Rab isoform was confirmed by co-immunoprecipitation assay and/or colocalization analysis ..
- The role of the inositol polyphosphate 5-phosphatases in cellular function and human diseaseLisa M Ooms
Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia
Biochem J 419:29-49. 2009..2, SKIP (skeletal muscle- and kidney-enriched inositol phosphatase) and 72-5ptase (72 kDa 5-ptase)/Type IV/Inpp5e (inositol polyphosphate 5-phosphatase E) are implicated in negatively regulating insulin signalling and glucose ..
- INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouseMonique Jacoby
Institut de Recherches Interdisciplinaires en Biologie Humaine et Moléculaire, Institut de Biologie et de Médecine Moléculaires, Universite Libre de Bruxelles, Gosselies, Belgium
Nat Genet 41:1027-31. 2009..Here, we report that mice deficient for the lipid 5-phosphatase Inpp5e develop a multiorgan disorder associated with structural defects of the primary cilium...
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas
Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, USA
Nat Genet 41:1032-6. 2009..In individuals with Joubert disease genetically linked to JBTS1, we identified mutations in the INPP5E gene, encoding inositol polyphosphate-5-phosphatase E, which hydrolyzes the 5-phosphate of PtdIns(3,4,5)P3 and ..
- X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- miceDavid J Bernard
Inborn Errors and Cell Biology, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mamm Genome 21:186-94. 2010..5-dpc blastocyst prior to implantation. These results indicate a functional overlap of Ocrl and Inpp5b in most cell lineages, especially in extraembryonic tissues...
- Normal cognitive functions in joubert syndromeA Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
Neuropediatrics 40:287-90. 2009..Molecular investigations demonstrated a homozygous mutation in the INPP5E gene...
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
J Med Genet 48:105-16. 2011..To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised...
- Paradoxical effect of caspofungin against Candida bloodstream isolates is mediated by multiple pathways but eliminated in human serumRyan K Shields
Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
Antimicrob Agents Chemother 55:2641-7. 2011..We implicate the Irs4-Inp51 phosphatidylinositol-(4,5)-bisphosphate 5'-phosphatase as a novel regulator of paradoxical growth...
- In vivo drug-response in patients with leukemic non-Hodgkin's lymphomas is associated with in vitro chemosensitivity and gene expression profilingKai Uwe Chow
University Hospital, Department of Internal Medicine II, Hematology and Oncology, Frankfurt Main, Germany
Pharmacol Res 53:49-61. 2006..TNF alpha converting enzyme (ADAM17/TACE), homeo box A3 (HOX1), inositol polyphosphatase 5-phosphatase type IV (PPI5PIV) and inhibitor of p53 induced apoptosis alpha (IPIA-Alpha/NM23-H6)...
- Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi networkRawshan Choudhury
Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
Mol Biol Cell 16:3467-79. 2005..These findings suggest a role for OCRL1 in clathrin-mediated trafficking of proteins from endosomes to the TGN and that defects in this pathway might contribute to the Lowe syndrome phenotype...
- Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasisS Srinivasan
LGDR NHGRI National Institutes of Health, Bethesda, MD 20892 4472, USA
Eur J Cell Biol 74:350-60. 1997..No defect in carboxypeptidase Y sorting was seen in a processing and targeting assay. Abnormal actin cytoskeleton morphology was present in some of the strains carrying mutations in two of the genes...
- INP51, a yeast inositol polyphosphate 5-phosphatase required for phosphatidylinositol 4,5-bisphosphate homeostasis and whose absence confers a cold-resistant phenotypeL E Stolz
Departments of Pharmacology and Cancer Biology and of Biochemistry, Duke Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 273:11852-61. 1998..In addition, we define a novel role for a 5-phosphatase loss of function mutant that improves the growth of cells at colder temperatures without alteration of growth at normal temperatures, which may have useful commercial applications...
- Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in miceP A Jänne
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA
J Clin Invest 101:2042-53. 1998....
- First report of prenatal biochemical diagnosis of Lowe syndromeS F Suchy
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Prenat Diagn 18:1117-21. 1998..We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes...
- Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneityK Saar
1Mikrosatellitenzentrum, Max Delbrück Centrum, Humboldt University, Berlin, Germany
Am J Hum Genet 65:1666-71. 1999..We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q...
- The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphataseM V Kisseleva
Washington University School of Medicine, Department of Internal Medicine, Division of Hematology, St Louis, Missouri 63110, USA
J Biol Chem 275:20110-6. 2000..mRNA was detected in many tissues and cell lines as determined by Northern blotting...
- Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi networkA M Kong
Department of Biochemistry and Molecular Biology and Department of Anatomy and Cell Biology, Monash University, Clayton, Victoria 3168, Australia
J Biol Chem 275:24052-64. 2000..We propose that the novel 5-phosphatase hydrolyzes phosphatidylinositol 3,4, 5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby may regulate Golgi-vesicular trafficking...
- The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationSharon F Suchy
National Human Genome Research Institute, Bethesda, MD 20892, USA
Am J Hum Genet 71:1420-7. 2002..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype...
- Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi networkAdèle Faucherre
Institut Cochin, Département de Génétiques, Developpement et Pathologie Moleculaire, INSERM U567 CNRS UMR8104 Université Paris V, France
Hum Mol Genet 12:2449-56. 2003..Moreover, loss of OCRL1 RhoGAP and the resulting alteration in Rho pathways may contribute to mental retardation in Lowe syndrome, as illustrated in other forms of X-linked mental retardation...
- Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membraneAkira Ono
Virus Cell Interaction Section, HIV Drug Resistance Program, National Cancer Institute, Frederick, MD 21702 1201, USA
Proc Natl Acad Sci U S A 101:14889-94. 2004..These results demonstrate that PI(4,5)P2 plays a key role in Gag targeting to the plasma membrane and thus serves as a cellular determinant of HIV-1 particle production...
- Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesJianjun Chen
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
Invest Ophthalmol Vis Sci 52:5317-24. 2011..The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS...