호모 사피엔스 종의 단백질 코드 유전자
이노시톨 폴리인산 5-인산가수분해효소 OCRL-1 (Lowe oculoceerebrorenal syndrome )은 인간의 [5] 염색체 에 위치한 OCRL 유전자 에 의해 코드된 효소 이다.
이 유전자는 액틴 중합에 관여하는 포스파타아제 효소를 코드하며, 골기 횡단 [5]
이 유전자의 돌연변이는 안구뇌수막증후군 [6] [7] [8] 덴트병과 관련이 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000122126 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000001173 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: oculocerebrorenal syndrome of Lowe" .^ Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet . 77 (5): 348–55. doi :10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J . PMID 9632163 . ^ 온라인 Mendelian In Man (OMIM) : 300555 ^ Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1" . Am. J. Hum. Genet . 76 (2): 260–7. doi :10.1086/427887 . PMC 1196371 PMID 15627218 . 추가 정보 Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome" . Nature . 434 (7031): 325–37. Bibcode :2005Natur.434..325R . doi :10.1038/nature03440 . PMC 2665286 PMID 15772651 . Erdmann KS, Mao Y, McCrea HJ, et al. (2007). "A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway" . Dev. Cell . 13 (3): 377–90. doi :10.1016/j.devcel.2007.08.004 . PMC 2025683 PMID 17765681 . Hyvola N, Diao A, McKenzie E, et al. (2006). "Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases" . EMBO J . 25 (16): 3750–61. doi :10.1038/sj.emboj.7601274 . PMC 1553191 PMID 16902405 . Mao Y, Balkin DM, Zoncu R, et al. (2009). "A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism" . EMBO J . 28 (13): 1831–42. doi :10.1038/emboj.2009.155 . PMC 2711190 PMID 19536138 . Suchy SF, Cronin JC, Nussbaum RL (2009). "Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1" . J. Inherit. Metab. Dis . 32 (2): 280–8. doi :10.1007/s10545-009-1058-3 . PMID 19172411 . S2CID 31583330 . Wu F, Reed AA, Williams SE, et al. (2009). "Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease". Nephron Physiol . 112 (4): 53–62. doi :10.1159/000225944 . PMID 19546591 . S2CID 24946606 . Coon BG, Mukherjee D, Hanna CB, et al. (2009). "Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase" . Hum. Mol. Genet . 18 (23): 4478–91. doi :10.1093/hmg/ddp407 PMC 7289333 PMID 19700499 . Tosetto E, Addis M, Caridi G, et al. (2009). "Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations". Pediatr. Nephrol . 24 (10): 1967–73. doi :10.1007/s00467-009-1228-4 . PMID 19582483 . S2CID 25741167 . Faucherre A, Desbois P, Nagano F, et al. (2005). "Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology" . Hum. Mol. Genet . 14 (11): 1441–8. doi :10.1093/hmg/ddi153 PMID 15829501 . Shrimpton AE, Hoopes RR, Knohl SJ, et al. (2009). "OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability". Nephron Physiol . 112 (2): 27–36. doi :10.1159/000213506 . PMID 19390221 . S2CID 21834343 . Sekine T, Nozu K, Iyengar R, et al. (2007). "OCRL1 mutations in patients with Dent disease phenotype in Japan". Pediatr. Nephrol . 22 (7): 975–80. doi :10.1007/s00467-007-0454-x . PMID 17384968 . S2CID 20047399 . Chabaâ L, Monnier N, Dahri S, et al. (2006). "[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]". Ann. Biol. Clin. (Paris) . 64 (1): 53–9. PMID 16420990 . Choudhury R, Diao A, Zhang F, 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 (8): 3467–79. doi :10.1091/mbc.E05-02-0120 . PMC 1182289 PMID 15917292 . Sethi SK, Bagga A, Gulati A, et al. (2008). "Mutations in OCRL1 gene in Indian children with Lowe syndrome". Clin. Exp. Nephrol . 12 (5): 358–62. doi :10.1007/s10157-008-0059-0 . PMID 18500547 . S2CID 3458176 . Cui S, Guerriero CJ, Szalinski CM, et al. (2010). "OCRL1 function in renal epithelial membrane traffic" . Am. J. Physiol. Renal Physiol . 298 (2): F335-45. doi :10.1152/ajprenal.00453.2009 . PMC 2822509 PMID 19940034 . McCrea HJ, Paradise S, Tomasini L, et al. (2008). "All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding" . Biochem. Biophys. Res. Commun . 369 (2): 493–9. doi :10.1016/j.bbrc.2008.02.067 . PMC 2442618 PMID 18307981 . Hoopes RR, Shrimpton AE, Knohl SJ, et al. (2005). "Dent Disease with mutations in OCRL1" . Am. J. Hum. Genet . 76 (2): 260–7. doi :10.1086/427887 . PMC 1196371 PMID 15627218 . Levtchenko EN, Monnens LA, Bökenkamp A, Knoers NV (2007). "[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]". Ned Tijdschr Geneeskd . 151 (43): 2377–80. PMID 18019214 . Choudhury R, Noakes CJ, McKenzie E, et al. (2009). "Differential clathrin binding and subcellular localization of OCRL1 splice isoforms" . J. Biol. Chem . 284 (15): 9965–73. doi :10.1074/jbc.M807442200 PMC 2665120 PMID 19211563 . Swan LE, Tomasini L, Pirruccello M, et al. (2010). "Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1" . Proc. Natl. Acad. Sci. U.S.A . 107 (8): 3511–6. Bibcode :2010PNAS..107.3511S . doi :10.1073/pnas.0914658107 PMC 2840420 PMID 20133602 .
외부 링크
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