| 1 | GLSPS2, ITPR1, ITPR2
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| A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
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| McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.
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| Am J Hum Genet 98(5):981-92. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. 2016
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| 2 | GLSPS2, ITPR1
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| A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
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| McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.
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| Am J Hum Genet 98(5):981-92. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21.
2016
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| 3 | CLA4, ITPR1
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| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
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| Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.
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| Clin Genet lin Genet. 2016 Apr 7. doi: 10.1111/cge.12783. [Epub ahead of print]
2016
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| 4 | CLA4, ITPR1, SCA15
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| Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
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| Tada M, Nishizawa M, Onodera O.
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| Neurochem Int 94:1-8. doi: 10.1016/j.neuint.2016.01.007. Epub 2016 Jan 28. Review.
2016
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| 5 | ARHGEF26, CNTN4, ITPR1, TGM4
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| GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans.
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| Chittoor G, Kent JW Jr, Almeida M, Puppala S, Farook VS, Cole SA, Haack K, Göring HH, MacCluer JW, Curran JE, Carless MA, Johnson MP, Moses EK, Almasy L, Mahaney MC, Lehman DM, Duggirala R, Comuzzie AG, Blangero J, Voruganti VS.
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| BMC Genomics 17:276. doi: 10.1186/s12864-016-2594-5.
2016
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| 6 | CLA4, ITPR1
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| Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
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| Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
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| J Neurol 262(5):1278-84. doi: 10.1007/s00415-015-7705-8. Epub 2015 Mar 21.
2015
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| 7 | DISC1, ITPR1, ZNF385A
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| Disrupted-in-schizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity.
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| Tsuboi D, Kuroda K, Tanaka M, Namba T, Iizuka Y, Taya S, Shinoda T, Hikita T, Muraoka S, Iizuka M, Nimura A, Mizoguchi A, Shiina N, Sokabe M, Okano H, Mikoshiba K, Kaibuchi K.
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| Nat Neurosci 18(5):698-707. doi: 10.1038/nn.3984. Epub 2015 Mar 30.
2015
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| 8 | CLA4, ITPR1
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| Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
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| Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
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| J Neurol 262(5):1278-84. doi: 10.1007/s00415-015-7705-8. Epub 2015 Mar 21.
2015
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| 9 | CA8, ITPR1
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| Carbonic anhydrase-8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.
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| Zhuang GZ, Keeler B, Grant J, Bianchi L, Fu ES, Zhang YP, Erasso DM, Cui JG, Wiltshire T, Li Q, Hao S, Sarantopoulos KD, Candiotti K, Wishnek SM, Smith SB, Maixner W, Diatchenko L, Martin ER, Levitt RC.
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| PLoS One 10(3):e0118273. doi: 10.1371/journal.pone.0118273. eCollection 2015.
2015
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| 10 | ITPR1
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| Inositol 1,4,5 trisphosphate receptor 1 is a key player of human myoblast differentiation.
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| Antigny F, Konig S, Bernheim L, Frieden M.
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| Cell Calcium 56(6):513-21. doi: 10.1016/j.ceca.2014.10.014. Epub 2014 Nov 4.
2014
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| 11 | EPAS1, ITPR1
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| ITPR1 protects renal cancer cells against natural killer cells by inducing autophagy.
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| Messai Y, Noman MZ, Hasmim M, Janji B, Tittarelli A, Boutet M, Baud V, Viry E, Billot K, Nanbakhsh A, Ben Safta T, Richon C, Ferlicot S, Donnadieu E, Couve S, Gardie B, Orlanducci F, Albiges L, Thiery J, Olive D, Escudier B, Chouaib S.
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| Cancer Res 74(23):6820-32. doi: 10.1158/0008-5472.CAN-14-0303. Epub 2014 Oct 8.
2014
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| 12 | CRTC2, ITPR1, ITPR2
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| Inositol-1,4,5-trisphosphate receptor regulates hepatic gluconeogenesis in fasting and diabetes.
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| Wang Y, Li G, Goode J, Paz JC, Ouyang K, Screaton R, Fischer WH, Chen J, Tabas I, Montminy M.
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| Nature 485(7396):128-32. doi: 10.1038/nature10988.
2012
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| 13 | FKBP1A, ITPR1, RYR1, RYR3
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| Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels.
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| Wen H, Kang S, Song Y, Song Y, Yang HJ, Kim MH, Park S.
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| Arch Biochem Biophys 517(1):37-42. doi: 10.1016/j.abb.2011.11.004. Epub 2011 Nov 11.
2012
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| 14 | ITPR1, RNF170
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| RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.
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| Lu JP, Wang Y, Sliter DA, Pearce MM, Wojcikiewicz RJ.
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| J Biol Chem 286(27):24426-33. Epub 2011 May 24.
2011
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| 15 | ITPR1, SCA15
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| Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.
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| Yamazaki H, Nozaki H, Onodera O, Michikawa T, Nishizawa M, Mikoshiba K.
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| Biochem Biophys Res Commun 410(4):754-8. Epub 2011 Jun 13.
2011
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| 16 | ITPR1, ITPR3
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| Inositol 1,4,5-trisphosphate receptors are essential for the development of the second heart field.
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| Nakazawa M, Uchida K, Aramaki M, Kodo K, Yamagishi C, Takahashi T, Mikoshiba K, Yamagishi H.
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| J Mol Cell Cardiol 51(1):58-66. doi: 10.1016/j.yjmcc.2011.02.014. Epub 2011 Mar 5.
2011
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| 17 | EPB41L1, ITPR1
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| The type I inositol 1,4,5-trisphosphate receptor interacts with protein 4.1N to mediate neurite formation through intracellular Ca waves.
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| Fiedler MJ, Nathanson MH.
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| Neurosignals 19(2):75-85. doi: 10.1159/000324507. Epub 2011 Mar 10.
2011
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| 18 | ITPR1, NCS1
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| Neuronal calcium sensor-1 promotes immature heart function and hypertrophy by enhancing Ca2+ signals.
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| Nakamura TY, Jeromin A, Mikoshiba K, Wakabayashi S.
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| Circ Res 109(5):512-23. doi: 10.1161/CIRCRESAHA.111.248864. Epub 2011 Jul 7.
2011
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| 19 | ITPR1, ITPR2, ITPR3
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| Structural studies of inositol 1,4,5-trisphosphate receptor: coupling ligand binding to channel gating.
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| Chan J, Yamazaki H, Ishiyama N, Seo MD, Mal TK, Michikawa T, Mikoshiba K, Ikura M.
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| J Biol Chem 285(46):36092-9. doi: 10.1074/jbc.M110.140160. Epub 2010 Sep 15.
2010
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| 20 | ITPR1
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| Tumor necrosis factor-alpha-mediated regulation of the inositol 1,4,5-trisphosphate receptor promoter.
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| Park KM, Yule DI, Bowers WJ.
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| J Biol Chem 284(40):27557-66. Epub 2009 Aug 7.PMID: 19666470 2009
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| 21 | ITPR1, PKD, PKD1, PKD2
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| Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease.
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| Li Y, Santoso NG, Yu S, Woodward OM, Qian F, Guggino WB.
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| J Biol Chem 284(52):36431-41. Epub 2009 Oct 23.PMID: 19854836 2009
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| 22 | CABP1, ITPR1
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| Structural insights into Ca2+-dependent regulation of inositol 1,4,5-trisphosphate receptors by CaBP1.
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| Li C, Chan J, Haeseleer F, Mikoshiba K, Palczewski K, Ikura M, Ames JB.
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| J Biol Chem 284(4):2472-81. Epub 2008 Nov 13.
2009
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| 23 | SCA16, ITPR1, SUMF1
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| Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
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| Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, Furuya H, Ohyagi Y, Taniwaki T, Kira J, Fukumaki Y.
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| J Med Genet 45(1):32-5. Epub 2007 Oct 11. 2008
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| 24 | ITPR1
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| Predominant role of type 1 IP3 receptor in aortic vascular muscle contraction.
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| Zhou H, Nakamura T, Matsumoto N, Hisatsune C, Mizutani A, Iesaki T, Daida H, Mikoshiba K.
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| Biochem Biophys Res Commun 369(1):213-9. Epub 2008 Jan 30. 2008
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| 25 | ITPR1, SCA15
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| Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
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| Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O.
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| Neurology 71(8):547-51. Epub 2008 Jun 25.
2008
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| 26 | ITPR1, ITPR2, ITPR3
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| Expression of IP3 receptor isoforms at the nodes of Ranvier in rat sciatic nerve.
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| Martinez-Gomez A, Dent MA.
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| Neuroreport 18(5):447-50. 2007
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| 27 | ITPR1, SCA15
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| Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
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| van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB.
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| PLoS Genet 3(6):e108. Epub 2007 May 16.
2007
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| 28 | AHCYL1, ITPR1, ITPR3
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| Protein phosphatase-1 is a novel regulator of the interaction between IRBIT and the inositol 1,4,5-trisphosphate receptor.
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| Devogelaere B, Beullens M, Sammels E, Derua R, Waelkens E, van Lint J, Parys JB, Missiaen L, Bollen M, De Smedt H.
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| Biochem J 407(2):303-11.PMID: 17635105 2007
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| 29 | DLG1, EPB41L1, ITPR1
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| Differential neuronal and glial expression of GluR1 AMPA receptor subunit and the scaffolding proteins SAP97 and 4.1N during rat cerebellar development.
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| Douyard J, Shen L, Huganir RL, Rubio ME.
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| J Comp Neurol 502(1):141-56.
2007
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| 30 | AHCYL1, SLC4A4, ITPR1
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| IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1).
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| Shirakabe K, Priori G, Yamada H, Ando H, Horita S, Fujita T, Fujimoto I, Mizutani A, Seki G, Mikoshiba K.
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| Proc Natl Acad Sci U S A 103(25):9542-7. Epub 2006 Jun 12. 2006
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| 31 | ITPR1
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| CIB1, a ubiquitously expressed Ca2+-binding protein ligand of the InsP3 receptor Ca2+ release channel.
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| White C, Yang J, Monteiro MJ, Foskett JK.
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| J Biol Chem 281(30):20825-33. Epub 2006 May 24. 2006
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| 32 | AHCYL1, ITPR1
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| Binding of IRBIT to the IP3 receptor: determinants and functional effects.
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| Devogelaere B, Nadif Kasri N, Derua R, Waelkens E, Callewaert G, Missiaen L, Parys JB, De Smedt H.
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| Biochem Biophys Res Commun 343(1):49-56. Epub 2006 Feb 28.PMID: 16527252 2006
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| 33 | CIB1, ITPR1
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| CIB1, a ubiquitously expressed Ca2+-binding protein ligand of the InsP3 receptor Ca2+ release channel.
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| White C, Yang J, Monteiro MJ, Foskett JK.
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| J Biol Chem 281(30):20825-33. Epub 2006 May 24.PMID: 16723353 2006
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| 34 | EPB41L1, ITPR1
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| 4.1N binding regions of inositol 1,4,5-trisphosphate receptor type 1.
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| Fukatsu K, Bannai H, Inoue T, Mikoshiba K.
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| Biochem Biophys Res Commun 342(2):573-6. Epub 2006 Feb 10.
2006
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| 35 | ITPR1, PKD2
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| Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
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| Li Y, Wright JM, Qian F, Germino GG, Guggino WB.
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| J Biol Chem 280(50):41298-306. Epub 2005 Oct 13. 2005
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| 36 | AP1S1, ATP6V1D, BM22, CASP8AP2, CDC16, CDC27, CENPE, CLDN16, CMTM4, CYTH3, DDX5, DHX8, EIF3A, EIF3H, EIF4A3, GALNT5, ITPR1, KIF11, KPNB1, LSM6, MFAP1, NCAPD3, NCAPG2, RBM19, RRM2, SART1, SNRPA1, SNRPB, SNW1, SPC25, VCP, ZDHHC5
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| An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division.
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| Kittler R, Putz G, Pelletier L, Poser I, Heninger AK, Drechsel D, Fischer S, Konstantinova I, Habermann B, Grabner H, Yaspo ML, Himmelbauer H, Korn B, Neugebauer K, Pisabarro MT, Buchholz F.
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| Nature 432(7020):1036-40. 2004
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| 37 | AKAP9, ITPR1
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| Association of type 1 inositol 1,4,5-trisphosphate receptor with AKAP9 (Yotiao) and protein kinase A.
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| Tu H, Tang TS, Wang Z, Bezprozvanny I.
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| J Biol Chem 279(18):19375-82. Epub 2004 Feb 24. 2004
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| 38 | ITPR3, ITPR1
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| Distinct roles of inositol 1,4,5-trisphosphate receptor types 1 and 3 in Ca2+ signaling.
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| Hattori M, Suzuki AZ, Higo T, Miyauchi H, Michikawa T, Nakamura T, Inoue T, Mikoshiba K.
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| J Biol Chem 279(12):11967-75. Epub 2004 Jan 5. 2004
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| 39 | ITPR1, SCA15
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| Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.
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| Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, Gardner RJ, Storey E, Forrest SM.
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| Neurobiol Dis 13(2):147-57. 2003
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| 40 | HOMER1, HOMER2, HOMER3, ITPR1, TRPC1
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| Homer binds TRPC family channels and is required for gating of TRPC1 by IP3 receptors.
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| Yuan JP, Kiselyov K, Shin DM, Chen J, Shcheynikov N, Kang SH, Dehoff MH, Schwarz MK, Seeburg PH, Muallem S, Worley PF.
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| Cell 114(6):777-89. 2003
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| 41 | ITPR1, CA8
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| Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.
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| Hirota J, Ando H, Hamada K, Mikoshiba K.
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| Biochem J 372(Pt 2):435-41. 2003
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| 42 | ITPR1, CHGB
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| A functional interaction between chromogranin B and the inositol 1,4,5-trisphosphate receptor/Ca2+ channel.
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| Thrower EC, Choe CU, So SH, Jeon SH, Ehrlich BE, Yoo SH.
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| J Biol Chem 278(50):49699-706. Epub 2003 Sep 23. 2003
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| 43 | CABP1, ITPR1
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| Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels.
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| Yang J, McBride S, Mak DO, Vardi N, Palczewski K, Haeseleer F, Foskett JK.
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| Proc Natl Acad Sci U S A 99(11):7711-6. 2002
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| 44 | ITPR1, ITPR3
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| Mapping of the ATP-binding sites on inositol 1,4,5-trisphosphate receptor type 1 and type 3 homotetramers by controlled proteolysis and photoaffinity labeling.
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| Maes K, Missiaen L, Parys JB, De Smet P, Sienaert I, Waelkens E, Callewaert G, De Smedt H.
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| J Biol Chem 276(5):3492-7. 2001
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| 45 | ITPR1, ITPR2, ITPR3
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| Encoding of Ca2+ signals by differential expression of IP3 receptor subtypes.
|
| Miyakawa T, et al.
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| EMBO J 18 : 1303-1308. 1999
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| 46 | ITPR1
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| Cloning and characterization of the type I inositol 1,4,5-trisphosphate receptor gene promoter. Regulation by 17beta-estradiol in osteoblasts.
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| Kirkwood KL, Homick K, Dragon MB, Bradford PG.
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| J Biol Chem 272(36):22425-31.PMID: 9278393 1997
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| 47 | ITPR1
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| The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes.
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| Harnick DJ, et al.
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| J Biol Chem 270 : 2833-2840. 1995
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| 48 | ITPR1
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| Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant.
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| Nucifora FC Jr, Li SH, Danoff S, Ullrich A, Ross CA.
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| Brain Res Mol Brain Res 32(2):291-6. 1995
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| 49 | ITPR1
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| Muscarinic receptor activation down-regulates the type I inositol 1,4,5-trisphosphate receptor by accelerating its degradation.
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| Wojcikiewicz RJ, Furuichi T, Nakade S, Mikoshiba K, Nahorski SR.
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| J Biol Chem 269(11):7963-9. 1994
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| 50 | ITPR1
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| Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization.
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| Yamada N, Makino Y, Clark RA, Pearson DW, Mattei MG, Guenet JL, Ohama E, Fujino I, Miyawaki A, Furuichi T, et al.
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| Biochem J 302 ( Pt 3):781-90. 1994
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| 51 | ITPR1, ITPR3
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| The genes for inositol 1,4,5-triphosphate receptors 1 (ITPR1) and 3 (ITPR3) are localized on human chromosomes 3p and 6pter-p21, respectively.
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| …zŤelik T, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1880. 1991
|