Neurofibromin
From Proteopedia
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<StructureSection load='' scene='90/904325/Introductory_image_full/1' size='340' side='right' caption='Neurofibromin'> | <StructureSection load='' scene='90/904325/Introductory_image_full/1' size='340' side='right' caption='Neurofibromin'> | ||
== Introduction == | == Introduction == | ||
- | Neurofibromin is a cytoplasmic protein | + | Neurofibromin (NF) is a cytoplasmic protein encoded by the ''NF1'' gene located on chromosome 17 <ref name= ''Bergoug''>PMID:33121128</ref>. NF suppresses the [https://proteopedia.org/wiki/index.php/GTPase_HRas "Ras"] oncogene through its effect on the rate of catalysis from <scene name='90/904325/Ras_full_structure/2'>Ras-GTP</scene> (active) to Ras-GDP (inactive)<ref name= ''Hall''>PMID:12213964</ref>. NF increasing the rate of catalysis of Ras means that Ras spends more time in its inactive state and cannot cause unnecessary cell proliferation linked to cancer<ref name= ''Cimino''>PMID:29478615</ref>. |
== Structure == | == Structure == | ||
Revision as of 19:06, 7 April 2022
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References
- ↑ Bergoug M, Doudeau M, Godin F, Mosrin C, Vallee B, Benedetti H. Neurofibromin Structure, Functions and Regulation. Cells. 2020 Oct 27;9(11). pii: cells9112365. doi: 10.3390/cells9112365. PMID:33121128 doi:http://dx.doi.org/10.3390/cells9112365
- ↑ Hall BE, Bar-Sagi D, Nassar N. The structural basis for the transition from Ras-GTP to Ras-GDP. Proc Natl Acad Sci U S A. 2002 Sep 17;99(19):12138-42. Epub 2002 Sep 4. PMID:12213964 doi:http://dx.doi.org/10.1073/pnas.192453199
- ↑ Cimino PJ, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol. 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID:29478615 doi:http://dx.doi.org/10.1016/B978-0-444-64076-5.00051-X
- ↑ Frech M, Darden TA, Pedersen LG, Foley CK, Charifson PS, Anderson MW, Wittinghofer A. Role of glutamine-61 in the hydrolysis of GTP by p21H-ras: an experimental and theoretical study. Biochemistry. 1994 Mar 22;33(11):3237-44. doi: 10.1021/bi00177a014. PMID:8136358 doi:http://dx.doi.org/10.1021/bi00177a014
- ↑ Bunda S, Burrell K, Heir P, Zeng L, Alamsahebpour A, Kano Y, Raught B, Zhang ZY, Zadeh G, Ohh M. Inhibition of SHP2-mediated dephosphorylation of Ras suppresses oncogenesis. Nat Commun. 2015 Nov 30;6:8859. doi: 10.1038/ncomms9859. PMID:26617336 doi:http://dx.doi.org/10.1038/ncomms9859
- ↑ Scheffzek K, Shivalingaiah G. Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions. Cold Spring Harb Perspect Med. 2019 Mar 1;9(3). pii: cshperspect.a031500. doi:, 10.1101/cshperspect.a031500. PMID:30104198 doi:http://dx.doi.org/10.1101/cshperspect.a031500
- ↑ Prive GG, Milburn MV, Tong L, de Vos AM, Yamaizumi Z, Nishimura S, Kim SH. X-ray crystal structures of transforming p21 ras mutants suggest a transition-state stabilization mechanism for GTP hydrolysis. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3649-53. doi: 10.1073/pnas.89.8.3649. PMID:1565661 doi:http://dx.doi.org/10.1073/pnas.89.8.3649
- ↑ Lupton CJ, Bayly-Jones C, D'Andrea L, Huang C, Schittenhelm RB, Venugopal H, Whisstock JC, Halls ML, Ellisdon AM. The cryo-EM structure of the human neurofibromin dimer reveals the molecular basis for neurofibromatosis type 1. Nat Struct Mol Biol. 2021 Dec;28(12):982-988. doi: 10.1038/s41594-021-00687-2., Epub 2021 Dec 9. PMID:34887559 doi:http://dx.doi.org/10.1038/s41594-021-00687-2
- ↑ Cimino PJ, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol. 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID:29478615 doi:http://dx.doi.org/10.1016/B978-0-444-64076-5.00051-X
- ↑ Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID:31582003 doi:http://dx.doi.org/10.1016/j.mcna.2019.07.004
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