INPP5E

Summary

Gene Symbol: INPP5E
Description: inositol polyphosphate-5-phosphatase E
Alias: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, phosphatidylinositol polyphosphate 5-phosphatase type IV, phosphatidylinositol-4,5-bisphosphate 5-phosphatase
Species: human

Top Publications

  1. ncbi Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate
    X Zhang
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 273:1574-82. 1998
  2. ncbi The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase
    M 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
  3. pmc Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    K Saar
    1Mikrosatellitenzentrum, Max Delbrück Centrum, Humboldt University, Berlin, Germany
    Am J Hum Genet 65:1666-71. 1999
  4. pmc Assembly and replication of HIV-1 in T cells with low levels of phosphatidylinositol-(4,5)-bisphosphate
    Kazuaki Monde
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
    J Virol 85:3584-95. 2011
  5. ncbi Development of end-stage renal disease at a young age in two cases with Joubert syndrome
    Ferah Sonmez
    Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydin, Turkey
    Turk J Pediatr 56:458-61. 2014
  6. doi The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon
    Dario Magnani
    Centre for Integrative Physiology, University of Edinburgh, Hugh Robson Building, Edinburgh EH8 9XD, UK
    Hum Mol Genet 24:2578-93. 2015
  7. pmc Interaction between the human immunodeficiency virus type 1 Gag matrix domain and phosphatidylinositol-(4,5)-bisphosphate is essential for efficient gag membrane binding
    Vineela Chukkapalli
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Room 5736A, Ann Arbor, MI 48109, USA
    J Virol 82:2405-17. 2008
  8. pmc Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecture
    Wolfgang Baehr
    Department of Ophthalmology, John A Moran Eye Center, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Neurobiology and Anatomy, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Biology, University of Utah, Salt Lake City, Utah, United States
    Invest Ophthalmol Vis Sci 55:8653-66. 2014
  9. pmc INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability
    Olga V Plotnikova
    Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia
    J Cell Sci 128:364-72. 2015
  10. pmc Gag localization and virus-like particle release mediated by the matrix domain of human T-lymphotropic virus type 1 Gag are less dependent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matrix domain of HIV-1 Gag
    Jingga Inlora
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
    J Virol 85:3802-10. 2011

Research Grants

  1. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2013

Scientific Experts

  • Sharon F Suchy
  • Fubito Nakatsu
  • Kai U Chow
  • Akira Ono
  • M Fukuda
  • Mario Loi
  • Joseph G Gleeson
  • Christina A Mitchell
  • Sandra Hakim
  • Jennifer M Dyson
  • Stephane Schurmans
  • Sophie Thomas
  • Edgar A Otto
  • Yan Ye
  • Monique Jacoby
  • Vineela Chukkapalli
  • Olga V Plotnikova
  • Francesc R Garcia-Gonzalo
  • Elle C Roberson
  • Friedhelm Hildebrandt
  • Wolfgang Baehr
  • Nadia Elkhartoufi
  • Tania Attie-Bitach
  • Sophie Saunier
  • Sarah E Conduit
  • Lorena Travaglini
  • Enza Maria Valente
  • Kollu N Rao
  • Qingwen Xu
  • Matthew J Eramo
  • Christian de Goede
  • Gisela G Slaats
  • Ian M Smyth
  • Jeremy F Reiter
  • Dario Magnani
  • Marcelo Chàvez
  • Jina Park
  • Ferah Sonmez
  • Tomohiro Segawa
  • Keisuke Sugimoto
  • Elizabeth M Davies
  • Colin A Johnson
  • Seongjin Seo
  • Wang Lai Hu
  • Xu Dong Zhang
  • Daniela F Bertelli
  • Lin Jie Zhang
  • Yoshinori Tsurusaki
  • Nicholas Katsanis
  • Lei Jin
  • Hsin Yi Tseng
  • Hiroaki Ishikawa
  • Na Luo
  • Melissa C Humbert
  • Serge N Schiffmann
  • Jingga Inlora
  • Francesco Brancati
  • Kazuaki Monde
  • Maha S Zaki
  • Eugen Boltshauser
  • Jianjun Chen
  • Enrico Bertini
  • Ryan K Shields
  • Hulya Kayserili
  • Martin Lowe
  • David J Bernard
  • Stephanie L Bielas
  • Lisa M Ooms
  • A Poretti
  • Stephanie Gayral
  • Marina V Kisseleva
  • Bernd Hoppe
  • Boris Utsch
  • Rawshan Choudhury
  • Yuxia Zhang
  • Julie Vogt
  • Hemant Khanna
  • Adèle Faucherre
  • Wei Zhang
  • Absorn Sriratana
  • Nancy J Mendelsohn
  • Christine R Isabella
  • Manisha Anand
  • Yan Huang
  • Robin M Hobbs
  • Jonathan Adkins
  • Sandra J Feeney
  • Glen R Monroe
  • Gijs van Haaften
  • Linjing Li

Detail Information

Publications58

  1. ncbi Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate
    X Zhang
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 273:1574-82. 1998
    ....
  2. ncbi The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase
    M 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...
  3. pmc Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    K 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...
  4. pmc Assembly and replication of HIV-1 in T cells with low levels of phosphatidylinositol-(4,5)-bisphosphate
    Kazuaki Monde
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
    J Virol 85:3584-95. 2011
    ..In T cells with low PI(4,5)P(2) levels, however, the reduced virus particle production can be compensated for by a mutation that enhances virus infectivity...
  5. ncbi Development of end-stage renal disease at a young age in two cases with Joubert syndrome
    Ferah Sonmez
    Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydin, Turkey
    Turk J Pediatr 56:458-61. 2014
    ..1303C>G (p.R435G) homozygous mutation in the INPP5E gene of the other...
  6. doi The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon
    Dario Magnani
    Centre for Integrative Physiology, University of Edinburgh, Hugh Robson Building, Edinburgh EH8 9XD, UK
    Hum Mol Genet 24:2578-93. 2015
    ..Finally, the abnormal projection of TCAs toward the amygdala is also present in mice carrying a mutation in the Inpp5e gene, which is mutated in Joubert Syndrome and which controls cilia signaling and stability...
  7. pmc Interaction between the human immunodeficiency virus type 1 Gag matrix domain and phosphatidylinositol-(4,5)-bisphosphate is essential for efficient gag membrane binding
    Vineela Chukkapalli
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Room 5736A, Ann Arbor, MI 48109, USA
    J Virol 82:2405-17. 2008
    ..Altogether, these results indicate that HIV-1 Gag binds PI(4,5)P(2) on the membrane and that the MA basic domain mediates this interaction...
  8. pmc Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecture
    Wolfgang Baehr
    Department of Ophthalmology, John A Moran Eye Center, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Neurobiology and Anatomy, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Biology, University of Utah, Salt Lake City, Utah, United States
    Invest Ophthalmol Vis Sci 55:8653-66. 2014
    ..specifically impeded trafficking of farnesylated phosphatidylinositol 3,4,5-trisphosphate (PIP3) 5-phosphatase (INPP5E) to cilia, causing severe syndromic ciliopathy (Joubert syndrome)...
  9. pmc INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability
    Olga V Plotnikova
    Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia
    J Cell Sci 128:364-72. 2015
    Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause the ciliopathies known as Joubert and MORM syndromes; however, the role of INPP5E in ciliary biology is not well understood...
  10. pmc Gag localization and virus-like particle release mediated by the matrix domain of human T-lymphotropic virus type 1 Gag are less dependent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matrix domain of HIV-1 Gag
    Jingga Inlora
    Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
    J Virol 85:3802-10. 2011
    ..Altogether, our data suggest that Gag targeting and membrane binding mediated by HTLV-1 MA does not require PI(4,5)P(2) and that distinct mechanisms regulate HIV-1 and HTLV-1 Gag membrane binding...
  11. doi Inpp5e increases the Rab5 association and phosphatidylinositol 3-phosphate accumulation at the phagosome through an interaction with Rab20
    Tomohiro Segawa
    Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734 8553, Japan
    Biochem J 464:365-75. 2014
    ..We prepared RAW264.7 macrophages deficient in Inpp5e (shInpp5e) to clarify the role of this lipid phosphatase...
  12. ncbi A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome
    Keisuke Sugimoto
    Department of Pediatrics, Kinki University School of Medicine
    Tohoku J Exp Med 232:163-6. 2014
    ..This missense mutation is located outside the known catalytic domain that is encoded by exons 4 through 15. The present patient carries a novel OCRL1 mutation that is helpful for genetic counseling. ..
  13. pmc A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
    Sophie Thomas
    INSERM U781, H pital Necker Enfants Malades, Paris, France Universit Paris Descartes, Paris Sorbonne, France
    Hum Mutat . 2013
    ..Proteomic analysis identified INPP5E, whose mutations also lead to JS or MORM syndromes, as novel prenyl-dependent cargo of PDE6D...
  14. pmc TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
    Elle C Roberson
    Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94158
    J Cell Biol 209:129-42. 2015
    ..in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts...
  15. doi Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output
    Marcelo Chàvez
    Laboratory of Neurophysiology, ULB Neuroscience Institute, Universite Libre de Bruxelles ULB, Brussels 1070, Belgium Electronic address
    Dev Cell 34:338-50. 2015
    ..Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) have been associated with ciliary dysfunction; however, its role in regulating ciliary phosphoinositides is ..
  16. ncbi Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling
    Sandra Hakim
    Cancer Program, Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC 3800, Australia
    Hum Mol Genet . 2016
    Polycystic kidney disease (PKD) is a common cause of renal failure with few effective treatments. INPP5E is an inositol polyphosphate 5-phosphatase that dephosphorylates phosphoinositide 3-kinase (PI3K)-generated PI(3,4,5)P3 and is ..
  17. pmc Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis
    Qingwen Xu
    Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Nat Commun 7:10777. 2016
    ..Iγ phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinase (PIPKIγ) and inositol polyphosphate-5-phosphatase E (INPP5E), a Joubert syndrome protein, localize to the centrosome and coordinate the initiation of ciliogenesis...
  18. doi Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases
    Matthew J Eramo
    Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia
    Biochem Soc Trans 44:240-52. 2016
    ..b>INPP5E regulates cilia stability and INPP5E mutations have been implicated ciliopathy syndromes...
  19. doi Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders
    Christian de Goede
    Department of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK Faculty of Health and Medicine, Lancaster University, Lancaster, UK
    Eur J Paediatr Neurol 20:286-95. 2016
    ..We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant...
  20. pmc Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling
    Francesc R Garcia-Gonzalo
    Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94158, USA
    Dev Cell 34:400-9. 2015
    ..This distribution is created by Inpp5e, a ciliary phosphoinositide 5-phosphatase...
  21. doi Ciliary Phosphoinositide Regulates Ciliary Protein Trafficking in Drosophila
    Jina Park
    Department of Oral Biology, Yonsei University College of Dentistry, 50 1 Yonsei ro, Seodaemun gu, Seoul 03722, Korea
    Cell Rep 13:2808-16. 2015
    Cilia are highly specialized antennae-like cellular organelles. Inositol polyphosphate 5-phosphatase E (INPP5E) converts PI(4,5)P2 into PI4P and is required for proper ciliary function...
  22. pmc MKS1 regulates ciliary INPP5E levels in Joubert syndrome
    Gisela G Slaats
    Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands
    J Med Genet 53:62-72. 2016
    ....
  23. doi A Phosphoinositide Code for Primary Cilia
    Fubito Nakatsu
    Department of Neurochemistry and Molecular Cell Biology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951 8510, Japan Electronic address
    Dev Cell 34:379-80. 2015
    ..Reporting recently in Developmental Cell, Chávez et al. (2015) and Garcia-Gonzalo et al. (2015) show that INPP5E-mediated phosphoinositide metabolism, which creates a specific phosphoinositide distribution, ensures proper ..
  24. pmc Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membrane
    Akira 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...
  25. ncbi Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
    Kollu N Rao
    Department of Ophthalmology, Horae Gene Therapy Center, UMass Medical School, Worcester, MA, USA
    Hum Mol Genet . 2016
    ..two JBTS-associated ciliary proteins: PDE6δ (delta subunit of phosphodiesterase; a prenyl-binding protein) and INPP5E (inositol polyphosphate-5-phosphatase 5E)...
  26. pmc Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
    Lorena Travaglini
    1 IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory San Giovanni Rotondo, San Giovanni Rotondo, Italy 2 Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Eur J Hum Genet 21:1074-8. 2013
    ..We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence ..
  27. doi The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 58:113-5. 2013
    ..We applied whole-exome sequencing (WES) to five JSRD families and found mutations in all: either CEP290, TMEM67 or INPP5E was mutated...
  28. doi Inositol polyphosphate phosphatases in human disease
    Sandra Hakim
    Department of Biochemistry and Molecular Biology, Monash University, Wellington Rd, Clayton 3800, Australia
    Curr Top Microbiol Immunol 362:247-314. 2012
    ..Genetic mutations in the 5-phosphatase INPP5E are causative of the ciliopathy syndromes Joubert and MORM, and mutations in the 5-phosphatase OCRL result in Lowe'..
  29. pmc ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
    Melissa C Humbert
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 109:19691-6. 2012
    ..Here, we describe a protein-protein interaction network of inositol polyphosphate-5-phosphatase E (INPP5E), a prenylated protein associated with JBTS, and its ciliary targeting mechanisms...
  30. pmc PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma
    Yan Ye
    School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales 2308, Australia
    Nat Commun 4:1508. 2013
    ..Collectively, these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma...
  31. pmc Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors
    Yan Ye
    Department of Immunology, Anhui Medical University, Anhui, China
    Transl Oncol 6:470-81. 2013
    ....
  32. pmc Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish
    Na Luo
    Glick Eye Institute, Department of Ophthalmology, Indiana University School of Medicine, 1160 W Michigan Street, Indianapolis, IN 46202, United States
    Vision Res 75:98-107. 2012
    ..Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, ..
  33. doi Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies
    Sarah E Conduit
    Department of Biochemistry and Molecular Biology, Monash University, Wellington Road, Clayton, Victoria 3800, Australia
    FEBS Lett 586:2846-57. 2012
    ..Mutations in two inositol polyphosphate 5-phosphatases, INPP5E and OCRL, cause the cerebrorenal syndromes of Joubert and Lowe's, respectively...
  34. doi Phosphoinositide phosphatases: just as important as the kinases
    Jennifer M Dyson
    Department of Biochemistry and Molecular Biology, Monash University, Wellington Rd, 3800, Clayton, Australia
    Subcell Biochem 58:215-79. 2012
    ..Two 5-phosphatase genes, OCRL and INPP5E are mutated in Lowe and Joubert syndrome respectively...
  35. doi Inhibition of 72 kDa inositol polyphosphate 5-phosphatase E improves insulin signal transduction in diet-induced obesity
    Daniela F Bertelli
    Laboratory of Cell Signaling, Department of Internal Medicine, Faculty of Applied Sciences and Department of Nursing, University of Campinas, DCM FCM, UNICAMP, 13084 970, Campinas, SP, Brazil
    J Endocrinol 217:131-40. 2013
    ..72k-5ptase expression is increased in obesity and its AS inhibition resulted in a significant improvement in insulin signal transduction and restoration of glucose homeostasis...
  36. pmc Proteomic analysis of mammalian primary cilia
    Hiroaki Ishikawa
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94158, USA
    Curr Biol 22:414-9. 2012
    ..These possible primary cilia-specific proteins include EVC2, INPP5E, and inversin, several of which have been linked to known ciliopathies...
  37. ncbi Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis
    S 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...
  38. ncbi In vivo drug-response in patients with leukemic non-Hodgkin's lymphomas is associated with in vitro chemosensitivity and gene expression profiling
    Kai 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)...
  39. pmc Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network
    Rawshan 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...
  40. ncbi Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network
    Adèle 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...
  41. pmc The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase
    X 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...
  42. pmc The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
    Sharon 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...
  43. ncbi Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network
    A 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...
  44. ncbi First report of prenatal biochemical diagnosis of Lowe syndrome
    S 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...
  45. pmc Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice
    P A Jänne
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA
    J Clin Invest 101:2042-53. 1998
    ....
  46. ncbi INP51, a yeast inositol polyphosphate 5-phosphatase required for phosphatidylinositol 4,5-bisphosphate homeostasis and whose absence confers a cold-resistant phenotype
    L 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...
  47. pmc Lowe syndrome
    Mario Loi
    Division of Paediatric Neurology, G Brotzu Hospital, Cagliari, Italy
    Orphanet J Rare Dis 1:16. 2006
    ..Life span rarely exceeds 40 years...
  48. ncbi Novel OCRL1 mutations in patients with the phenotype of Dent disease
    Boris Utsch
    Klinik mit Poliklinik für Kinder und Jugendliche, Universitat Erlangen Nurnberg, Erlangen, Germany
    Am J Kidney Dis 48:942.e1-14. 2006
    ..A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease)...
  49. pmc Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes
    Jianjun 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...
  50. pmc Paradoxical effect of caspofungin against Candida bloodstream isolates is mediated by multiple pathways but eliminated in human serum
    Ryan 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...
  51. pmc Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
    Edgar 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...
  52. doi Normal cognitive functions in joubert syndrome
    A 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...
  53. pmc X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice
    David 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...
  54. pmc Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
    Stephanie 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 ..
  55. doi INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
    Monique 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...
  56. doi The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease
    Lisa 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 ..
  57. doi Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity
    Mitsunori 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 ..

Research Grants1

  1. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2013
    ..We have identified the genes AHI1, NPHP1, CEP290, ARL13B, and INPP5E as well as several unpublished genes as mutated in patients with JS...