Neurofibromin: Difference between revisions
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<scene name='90/904325/Arginine_finger_and_gtp/1'>The arginine finger stabilizes glutamine which assists the cleaving mechanism.</scene> | <scene name='90/904325/Arginine_finger_and_gtp/1'>The arginine finger stabilizes glutamine which assists the cleaving mechanism.</scene> | ||
====Conformations==== | ====Conformations==== | ||
Neurofibromin is a dimeric protein that is found in the cytoplasm. It exists in two conformations, open and closed. The open conformation has one of the protomers in an auto-inhibited conformation and the other in an open conformation. In the open conformation, Ras is able to bind to neurofibromin. The closed conformation has both protomers in an autoinhibited conformation, which sterically hinders the binding of Ras. | Neurofibromin is a dimeric protein that is found in the cytoplasm. It exists in two conformations, <scene name='90/904326/Open_conformation/2'>open</scene>, and <scene name='90/904326/Closed_conformation/2'>closed</scene> . The open conformation has one of the protomers in an auto-inhibited conformation and the other in an open conformation. In the open conformation, Ras is able to bind to neurofibromin. The closed conformation has both protomers in an autoinhibited conformation, which sterically hinders the binding of Ras. | ||
==RAS Complex== | ==RAS Complex== | ||
<scene name='90/904325/Ras_nf1_complex/2'>NF interacts with Ras to form a complex. R68 assists N61 in catalysis.</scene> | <scene name='90/904325/Ras_nf1_complex/2'>NF interacts with Ras to form a complex. R68 assists N61 in catalysis.</scene> | ||
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Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1 (NF1). This condition drives several forms of human cancers by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people, and the NF gene itself has the highest mutation rate of any known human gene, adding to its prevalence<ref name= ''Lupton''>PMID:34887559</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. | Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1 (NF1). This condition drives several forms of human cancers by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people, and the NF gene itself has the highest mutation rate of any known human gene, adding to its prevalence<ref name= ''Lupton''>PMID:34887559</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. | ||
This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes. | This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes. | ||
<scene name='90/904326/Open_conformation_with_grd_hig/2'>Open Conformation with GRD highlighted</scene> | <scene name='90/904326/Open_conformation_with_grd_hig/2'>Open Conformation with GRD highlighted</scene> | ||
<scene name='90/904326/Grd_closed_conformation/2'>Closed Conformation with GRD highlighted</scene> | <scene name='90/904326/Grd_closed_conformation/2'>Closed Conformation with GRD highlighted</scene> | ||
<scene name='90/904326/Sec15ph_and_grd_open/2'>sec14ph domain in Open Conformation</scene> | <scene name='90/904326/Sec15ph_and_grd_open/2'>sec14ph domain in Open Conformation</scene> | ||
