Neurofibromin: Protein Domains and Functional Characteristics
作者： Klaus Scheffzek , Stefan Welti
DOI: 10.1007/978-3-642-32864-0_20
关键词: Regulator 、 GTPase-activating protein 、 Biological activity 、 Neurofibromin 1 、 Tumor suppressor gene 、 Pleckstrin homology domain 、 Protein domain 、 Chemistry 、 Cell biology 、 Gene
摘要: The tumor suppressor gene NF1 encodes the giant signal regulator neurofibromin (320 kDa) that is nonfunctional in patients due to alterations. Neurofibromin a Ras-specific GTPase activating protein (RasGAP) which downregulates biological activity of activated Ras via central GAP-related domain (GRD). Adjacent its carboxy terminal end, bipartite glycerophospholipid binding module has been discovered comprises Sec14- and pleckstrin homology (PH)-like domain. While number interaction partners have reported, RasGAP currently appears represent only clearly defined biochemical function this protein. This chapter focused on current knowledge about domains are structurally validated. Functional regulatory features will be briefly addressed potential impact non-truncating mutations detected discussed light available three-dimensional structural information.
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sci-hub.st 参考文章(167)
Jamee M Bomar, Paul J Benke, Eric L Slattery, Radhika Puttagunta, Larry P Taylor, Eunju Seong, Arne Nystuen, Weidong Chen, Roger L Albin, Paresh D Patel, Rick A Kittles, Val C Sheffield, Margit Burmeister, None, Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nature Genetics. ,vol. 35, pp. 264- 269 ,(2003) , 10.1038/NG1255
Karim Ouahchi, Makoto Arita, Herbert Kayden, Fayçal Hentati, Mongi Ben Hamida, Ronald Sokol, Hiroyuki Arai, Keizo Inoue, Jean-Louis Mandel, Michel Koenig, Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein Nature Genetics. ,vol. 9, pp. 141- 145 ,(1995) , 10.1038/NG0295-141
Edwin J. Weeber, J.David Sweatt, Molecular Neurobiology of Human Cognition Neuron. ,vol. 33, pp. 845- 848 ,(2002) , 10.1016/S0896-6273(02)00634-7
Corinne R. Abernathy, Boris G. Kousseff, Francis S. Collins, Heather J. Stalker, Sonja A. Rasmussen, Margaret R. Wallace, Roberto Zori, Daniel J. Driscoll, Jennifer S. Johnson, Lisa Baumbach, Sofia Krkljus, Charles A. Williams, Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1 Human Mutation. ,vol. 11, pp. 411- 411 ,(1998) , 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2
Rui M. Costa, Nikolai B. Federov, Jeff H. Kogan, Geoffrey G. Murphy, Joel Stern, Masuo Ohno, Raju Kucherlapati, Tyler Jacks, Alcino J. Silva, Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 Nature. ,vol. 415, pp. 526- 530 ,(2002) , 10.1038/NATURE711
Hartmut Peters, D Hess, R Fahsold, M Schülke, A novel mutation L1425p in the GAP‐region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE); Human Mutation. ,vol. 13, pp. 337- 337 ,(1999) , 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F
K. Wimmer, X. Roca, H. Beiglböck, T. Callens, J. Etzler, A.R. Rao, A.R. Krainer, C. Fonatsch, L. Messiaen, Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice‐site disruption Human Mutation. ,vol. 28, pp. 599- 612 ,(2007) , 10.1002/HUMU.20493
M Trahey, F McCormick, A cytoplasmic protein stimulates normal N-ras p21 GTPase, but does not affect oncogenic mutants Science. ,vol. 238, pp. 542- 545 ,(1987) , 10.1126/SCIENCE.2821624
Ming-Jen Lee, Yi-Ning Su, Huey-Ling You, Shinn-Chong Chiou, Li-Chu Lin, Chih-Chao Yang, Wang-Chao Lee, Wu-Liang Hwu, Fon-Jou Hsieh, Dennis A. Stephenson, Chia-Li Yu, Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. Human Mutation. ,vol. 27, pp. 832- 832 ,(2006) , 10.1002/HUMU.9446
Stefan Welti, Sven Fraterman, Igor D’Angelo, Matthias Wilm, Klaus Scheffzek, The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. Journal of Molecular Biology. ,vol. 366, pp. 551- 562 ,(2007) , 10.1016/J.JMB.2006.11.055