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Volumn 107, Issue 8, 2010, Pages 3511-3516

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1

Author keywords

Dent disease; Endocytosis; Lowe syndrome

Indexed keywords

ADAPTOR PROTEIN CONTAINING PLECKSTRIN PH DOMAIN PTB DOMAIN AND LEUCINE ZIPPER MOTIF 1; ENDOCYTIC PROTEIN SES1; ENDOCYTIC PROTEIN SES2; HISTIDINE; PHENYLALANINE; PROTEIN; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 77649259149     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0914658107     Document Type: Article
Times cited : (56)

References (47)
  • 1
    • 33749836234 scopus 로고    scopus 로고
    • Phosphoinositides in cell regulation and membrane dynamics
    • Di Paolo G, De Camilli P (2006) Phosphoinositides in cell regulation and membrane dynamics. Nature 443:651-657.
    • (2006) Nature , vol.443 , pp. 651-657
    • Di Paolo, G.1    De Camilli, P.2
  • 2
    • 53549122990 scopus 로고    scopus 로고
    • Function and dysfunction of the PI system in membrane trafficking
    • Vicinanza M, D'Angelo G, Di Campli A, De Matteis MA (2008) Function and dysfunction of the PI system in membrane trafficking. EMBO J 27:2457-2470.
    • (2008) EMBO J , vol.27 , pp. 2457-2470
    • Vicinanza, M.1    D'Angelo, G.2    Di Campli, A.3    De Matteis, M.A.4
  • 3
    • 0026742127 scopus 로고
    • The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
    • Attree O, et al. (1992) The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358: 239-242.
    • (1992) Nature , vol.358 , pp. 239-242
    • Attree, O.1
  • 4
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • Laporte J, et al. (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13:175-182.
    • (1996) Nat Genet , vol.13 , pp. 175-182
    • Laporte, J.1
  • 5
    • 0034062698 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
    • Bolino A, et al. (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25:17-19.
    • (2000) Nat Genet , vol.25 , pp. 17-19
    • Bolino, A.1
  • 6
    • 69349094765 scopus 로고    scopus 로고
    • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
    • Bielas SL, et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 41: 1032-1036.
    • (2009) Nat Genet , vol.41 , pp. 1032-1036
    • Bielas, S.L.1
  • 7
    • 69349095810 scopus 로고    scopus 로고
    • INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
    • Jacoby M, et al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet 41:1027-1031.
    • (2009) Nat Genet , vol.41 , pp. 1027-1031
    • Jacoby, M.1
  • 8
    • 59849125052 scopus 로고    scopus 로고
    • Mutations in phosphoinositide metabolizing enzymes and human disease
    • McCrea HJ, De Camilli P (2009) Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology (Bethesda) 24:8-16.
    • (2009) Physiology (Bethesda) , vol.24 , pp. 8-16
    • McCrea, H.J.1    De Camilli, P.2
  • 9
    • 62749155738 scopus 로고    scopus 로고
    • The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease
    • Ooms LM, et al. (2009) The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease. Biochem J 419:29-49.
    • (2009) Biochem J , vol.419 , pp. 29-49
    • Ooms, L.M.1
  • 10
    • 0029060795 scopus 로고
    • The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase
    • Zhang X, Jefferson AB, Auethavekiat V, Majerus PW (1995) The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 92:4853-4856.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 4853-4856
    • Zhang, X.1    Jefferson, A.B.2    Auethavekiat, V.3    Majerus, P.W.4
  • 12
    • 0017673453 scopus 로고
    • Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome
    • Delleman JW, Bleeker-Wagemakers EM, van Veelen AW (1977) Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. J Pediatr Ophthalmol 14:205-212.
    • (1977) J Pediatr Ophthalmol , vol.14 , pp. 205-212
    • Delleman, J.W.1    Bleeker-Wagemakers, E.M.2    van Veelen, A.W.3
  • 13
    • 53749097351 scopus 로고    scopus 로고
    • Fanconi or not Fanconi? Lowe syndrome revisited
    • Kleta R (2008) Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 3:1244-1245.
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1244-1245
    • Kleta, R.1
  • 14
    • 0028880063 scopus 로고
    • Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe
    • Kenworthy L, Charnas L (1995) Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. Am J Med Genet 59:283-290.
    • (1995) Am J Med Genet , vol.59 , pp. 283-290
    • Kenworthy, L.1    Charnas, L.2
  • 15
    • 0000227413 scopus 로고
    • Hypercalcuric rickets associated with renal tubular damage
    • Dent CE, Friedman M (1964) Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child 39:240-249.
    • (1964) Arch Dis Child , vol.39 , pp. 240-249
    • Dent, C.E.1    Friedman, M.2
  • 16
    • 38349033303 scopus 로고    scopus 로고
    • Renal manifestations of Dent disease and Lowe syndrome
    • Cho HY, et al. (2008) Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 23:243-249.
    • (2008) Pediatr Nephrol , vol.23 , pp. 243-249
    • Cho, H.Y.1
  • 17
    • 19944432314 scopus 로고    scopus 로고
    • Dent disease with mutations in OCRL1
    • Hoopes RR, Jr, et al. (2005) Dent disease with mutations in OCRL1. Am J Hum Genet 76:260-267.
    • (2005) Am J Hum Genet , vol.76 , pp. 260-267
    • Hoopes Jr, R.R.1
  • 18
    • 33845439113 scopus 로고    scopus 로고
    • Novel OCRL1 mutations in patients with the phenotype of Dent disease
    • Utsch B, et al. (2006) Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 48 (6):942-956.
    • (2006) Am J Kidney Dis , vol.48 , Issue.6 , pp. 942-956
    • Utsch, B.1
  • 19
    • 65449126722 scopus 로고    scopus 로고
    • OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability
    • 112:p27-p36
    • Shrimpton AE, et al. (2009) OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol 112:p27-p36.
    • (2009) Nephron Physiol
    • Shrimpton, A.E.1
  • 20
    • 34548210456 scopus 로고    scopus 로고
    • A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway
    • Erdmann KS, et al. (2007) A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell 13:377-390.
    • (2007) Dev Cell , vol.13 , pp. 377-390
    • Erdmann, K.S.1
  • 21
    • 67650373163 scopus 로고    scopus 로고
    • A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism
    • Mao Y, et al. (2009) A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism. EMBO J 28:1831-1842.
    • (2009) EMBO J , vol.28 , pp. 1831-1842
    • Mao, Y.1
  • 22
    • 65649144746 scopus 로고    scopus 로고
    • Differential clathrin binding and subcellular localization of OCRL1 splice isoforms
    • Choudhury R, Noakes CJ, McKenzie E, Kox C, Lowe M (2009) Differential clathrin binding and subcellular localization of OCRL1 splice isoforms. J Biol Chem 284: 9965-9973.
    • (2009) J Biol Chem , vol.284 , pp. 9965-9973
    • Choudhury, R.1    Noakes, C.J.2    McKenzie, E.3    Kox, C.4    Lowe, M.5
  • 23
    • 23044490771 scopus 로고    scopus 로고
    • Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network
    • Choudhury R, et al. (2005) Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell 16:3467-3479.
    • (2005) Mol Biol Cell , vol.16 , pp. 3467-3479
    • Choudhury, R.1
  • 24
    • 4544273742 scopus 로고    scopus 로고
    • The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin
    • Ungewickell A, Ward ME, Ungewickell E, Majerus PW (2004) The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. Proc Natl Acad Sci USA 101:13501-13506.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 13501-13506
    • Ungewickell, A.1    Ward, M.E.2    Ungewickell, E.3    Majerus, P.W.4
  • 25
    • 23944437499 scopus 로고    scopus 로고
    • An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway
    • Shin HW, et al. (2005) An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway. J Cell Biol 170:607-618.
    • (2005) J Cell Biol , vol.170 , pp. 607-618
    • Shin, H.W.1
  • 26
    • 33748066001 scopus 로고    scopus 로고
    • Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases
    • Hyvola N, et al. (2006) Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J 25:3750-3761.
    • (2006) EMBO J , vol.25 , pp. 3750-3761
    • Hyvola, N.1
  • 27
    • 46749156739 scopus 로고    scopus 로고
    • Large scale screening for novel Rab effectors reveals unexpected broad Rab binding specificity
    • Fukuda M, Kanno E, Ishibashi K, Itoh T (2008) Large scale screening for novel Rab effectors reveals unexpected broad Rab binding specificity. Mol Cell Proteomics 7: 1031-1042.
    • (2008) Mol Cell Proteomics , vol.7 , pp. 1031-1042
    • Fukuda, M.1    Kanno, E.2    Ishibashi, K.3    Itoh, T.4
  • 28
    • 0029120280 scopus 로고
    • The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex
    • Olivos-Glander IM, Jänne PA, Nussbaum RL (1995) The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet 57: 817-823.
    • (1995) Am J Hum Genet , vol.57 , pp. 817-823
    • Olivos-Glander, I.M.1    Jänne, P.A.2    Nussbaum, R.L.3
  • 29
    • 40949109644 scopus 로고    scopus 로고
    • All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
    • McCrea HJ, et al. (2008) All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochem Biophys Res Commun 369: 493-499.
    • (2008) Biochem Biophys Res Commun , vol.369 , pp. 493-499
    • McCrea, H.J.1
  • 30
    • 4444374646 scopus 로고    scopus 로고
    • OCRL mutation analysis in Italian patients with Lowe syndrome
    • Addis M, Loi M, Lepiani C, Cau M, Melis MA (2004) OCRL mutation analysis in Italian patients with Lowe syndrome. Hum Mutat 23:524-525.
    • (2004) Hum Mutat , vol.23 , pp. 524-525
    • Addis, M.1    Loi, M.2    Lepiani, C.3    Cau, M.4    Melis, M.A.5
  • 32
    • 0032486078 scopus 로고    scopus 로고
    • Oculocerebrorenal syndrome of Lowe: Three mutations in the OCRL1 gene derived from three patients with different phenotypes
    • Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (1998) Oculocerebrorenal syndrome of Lowe: Three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet 77:348-355.
    • (1998) Am J Med Genet , vol.77 , pp. 348-355
    • Kawano, T.1    Indo, Y.2    Nakazato, H.3    Shimadzu, M.4    Matsuda, I.5
  • 33
    • 0030971762 scopus 로고    scopus 로고
    • Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
    • Lin T, et al. (1997) Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 60:1384-1388.
    • (1997) Am J Hum Genet , vol.60 , pp. 1384-1388
    • Lin, T.1
  • 34
    • 1642417606 scopus 로고    scopus 로고
    • APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment
    • Miaczynska M, et al. (2004) APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. Cell 116:445-456.
    • (2004) Cell , vol.116 , pp. 445-456
    • Miaczynska, M.1
  • 35
    • 62549151303 scopus 로고    scopus 로고
    • A phosphoinositide switch controls the maturation and signaling properties of APPL endosomes
    • Zoncu R, et al. (2009) A phosphoinositide switch controls the maturation and signaling properties of APPL endosomes. Cell 136:1110-1121.
    • (2009) Cell , vol.136 , pp. 1110-1121
    • Zoncu, R.1
  • 36
    • 53749090368 scopus 로고    scopus 로고
    • Renal phenotype in Lowe syndrome: A selective proximal tubular dysfunction
    • Bockenhauer D, et al. (2008) Renal phenotype in Lowe syndrome: A selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430-1436.
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1430-1436
    • Bockenhauer, D.1
  • 37
    • 59349096122 scopus 로고    scopus 로고
    • Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation
    • Yuksel A, Karaca E, Albayram MS (2009) Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. J Child Neurol 24:93-96.
    • (2009) J Child Neurol , vol.24 , pp. 93-96
    • Yuksel, A.1    Karaca, E.2    Albayram, M.S.3
  • 38
    • 0033860781 scopus 로고    scopus 로고
    • OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling
    • Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J (2000) OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling. Hum Mutat 16:157-165.
    • (2000) Hum Mutat , vol.16 , pp. 157-165
    • Monnier, N.1    Satre, V.2    Lerouge, E.3    Berthoin, F.4    Lunardi, J.5
  • 39
    • 0345600247 scopus 로고    scopus 로고
    • A protein interaction map of Drosophila melanogaster
    • Giot L, et al. (2003) A protein interaction map of Drosophila melanogaster. Science 302:1727-1736.
    • (2003) Science , vol.302 , pp. 1727-1736
    • Giot, L.1
  • 40
    • 44449109239 scopus 로고    scopus 로고
    • Improving the photostability of bright monomeric orange and red fluorescent proteins
    • Shaner NC, et al. (2008) Improving the photostability of bright monomeric orange and red fluorescent proteins. Nat Methods 5:545-551.
    • (2008) Nat Methods , vol.5 , pp. 545-551
    • Shaner, N.C.1
  • 41
    • 0032581654 scopus 로고    scopus 로고
    • EEA1 links PI(3)K function to Rab5 regulation of endosome fusion
    • Simonsen A, et al. (1998) EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. Nature 394:494-498.
    • (1998) Nature , vol.394 , pp. 494-498
    • Simonsen, A.1
  • 42
    • 33749400917 scopus 로고    scopus 로고
    • A WD-FYVE protein binds to the kinases Akt and PKCzeta/ lambda
    • Fritzius T, et al. (2006) A WD-FYVE protein binds to the kinases Akt and PKCzeta/ lambda. Biochem J 399:9-20.
    • (2006) Biochem J , vol.399 , pp. 9-20
    • Fritzius, T.1
  • 43
    • 33747039515 scopus 로고    scopus 로고
    • The WD40 and FYVE domain containing protein 2 defines a class of early endosomes necessary for endocytosis
    • Hayakawa A, et al. (2006) The WD40 and FYVE domain containing protein 2 defines a class of early endosomes necessary for endocytosis. Proc Natl Acad Sci USA 103: 11928-11933.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 11928-11933
    • Hayakawa, A.1
  • 44
    • 1242264319 scopus 로고    scopus 로고
    • Finding functional sequence elements by multiple local alignment
    • Frith MC, Hansen U, Spouge JL, Weng Z (2004) Finding functional sequence elements by multiple local alignment. Nucleic Acids Res 32:189-200.
    • (2004) Nucleic Acids Res , vol.32 , pp. 189-200
    • Frith, M.C.1    Hansen, U.2    Spouge, J.L.3    Weng, Z.4
  • 45
    • 0034678458 scopus 로고    scopus 로고
    • A novel B lymphocyte-associated adaptor protein, Bam32, regulates antigen receptor signaling downstream of phosphatidylinositol 3-kinase
    • Marshall AJ, et al. (2000) A novel B lymphocyte-associated adaptor protein, Bam32, regulates antigen receptor signaling downstream of phosphatidylinositol 3-kinase. J Exp Med 191:1319-1332.
    • (2000) J Exp Med , vol.191 , pp. 1319-1332
    • Marshall, A.J.1
  • 46
    • 0033567293 scopus 로고    scopus 로고
    • DAPP1: A dual adaptor for phosphotyrosine and 3-phosphoinositides
    • Dowler S, Currie RA, Downes CP, Alessi DR (1999) DAPP1: A dual adaptor for phosphotyrosine and 3-phosphoinositides. Biochem J 342:7-12.
    • (1999) Biochem J , vol.342 , pp. 7-12
    • Dowler, S.1    Currie, R.A.2    Downes, C.P.3    Alessi, D.R.4


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