OCRL

OCRL
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	4CMN, 2KIE, 2QV2, 3QBT, 3QIS
معین‌کننده‌ها
نام‌های دیگر	OCRL, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase, OCRL inositol polyphosphate-5-phosphatase, INPP5F, Dent-2, DENT2
شناسه‌های بیرونی	OMIM: 300535 MGI: 109589 HomoloGene: 233 GeneCards: OCRL
موقعیت ژن (انسان)
کروموزوم	کروموزوم X (انسان)
پایان	129,592,561 bp
موقعیت ژن (موش)
کروموزوم	کروموزوم X (موش)
پایان	47,965,868 bp
هستی‌شناسی ژن
عملکرد ملکولی	• phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; • GO:0001948، GO:0016582 پیوند پروتئینی; • hydrolase activity; • GO:0005097، GO:0005099، GO:0005100 GTPase activator activity; • inositol-1,4,5-trisphosphate 5-phosphatase activity; • inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity; • phosphatidylinositol phosphate 4-phosphatase activity; • phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; • inositol phosphate phosphatase activity;
ترکیبات سلولی	• سیتوپلاسم; • سیتوزول; • اندوزوم; • phagocytic vesicle membrane; • دستگاه گلژی; • cell projection; • early endosome membrane; • membrane; • پوسته یاخته; • مژک; • Golgi-associated vesicle; • trans-Golgi network; • early endosome; • Golgi stack; • clathrin-coated pit; • GO:0016023 cytoplasmic vesicle; • هسته یاخته; • clathrin-coated vesicle; • photoreceptor outer segment;
فرایند زیستی	• سوخت‌وساز لیپید; • GO:0043087، GO:0032313، GO:0032319، GO:0032314، GO:0043088 regulation of GTPase activity; • in utero embryonic development; • inositol phosphate metabolic process; • cell projection organization; • phosphatidylinositol dephosphorylation; • phosphatidylinositol biosynthetic process; • regulation of small GTPase mediated signal transduction; • GO:0072468 ورارسانی پیام; • GO:0032320، GO:0032321، GO:0032855، GO:0043089، GO:0032854 positive regulation of GTPase activity; • phosphatidylinositol-3-phosphate biosynthetic process; • cilium assembly; • membrane organization; • inositol phosphate dephosphorylation;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	4952
	320634
	ENSG00000122126
	ENSMUSG00000001173
	Q01968
	Q6NVF0
	NM_001587، NM_001318784 NM_000276، NM_001587، NM_001318784
	XM_011251008، XM_017318524 NM_177215، XM_011251008، XM_017318524
	NP_001305713، NP_001578 NP_000267، NP_001305713، NP_001578
	XP_011249310، XP_017174013، XP_036017876، XP_036017877، XP_036017878، XP_036017879 NP_796189، XP_011249310، XP_017174013، XP_036017876، XP_036017877، XP_036017878، XP_036017879
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

اینوسیتول پلی‌فسفات ۵-فسفاتاز OCRL-1، همچنین به عنوان پروتئین سندرم چشمی‌مغزی‌کلیوی لو شناخته می‌شود، آنزیمی است که توسط ژن OCRL که بر روی کروموزوم X در انسان قرار دارد، کدگذاری می‌شود.^[۵]

این ژن یک آنزیم فسفاتاز را که در پلیمریزاسیون اکتین دخیل است کد می‌کند و در شبکه ترانس گلژی یافت می‌شود^[۵]

جهش در این ژن با سندرم چشمی‌مغزی‌کلیوی^[۶] و همچنین با بیماری دنت مرتبط است.^[۷]^[۸]

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCh38: Ensembl release 89: ENSG00000122126 - Ensembl, May 2017
↑ ^۲٫۰ ^۲٫۱ ^۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000001173 - Ensembl, May 2017
↑ "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.
↑ ^۵٫۰ ^۵٫۱ "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.
↑ 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.

جهت مطالعه

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.

پیوند به بیرون

GeneReviews/NCBI/NIH/UW entry on Lowe Syndrome
OCRL protein, human در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا
PDBe-KB provides an overview of all the structure information available in the PDB for Human Inositol polyphosphate 5-phosphatase OCRL-1

[refGRCh38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCh38: Ensembl release 89: ENSG00000122126 - Ensembl, May 2017

[refGRCm38Ensembl-2] ۲٫۰ ^۲٫۱ ^۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000001173 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] ۵٫۰ ^۵٫۱ "Entrez Gene: oculocerebrorenal syndrome of Lowe".

[pmid_9632163-6] 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.

[7] OMIM 300555

[pmid_15627218-8] 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.

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