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Details on Person Phosphorylation of RAF1 mutants
Class:Id Reaction:9656212 _displayName Phosphorylation of RAF1 mutants _doRelease TRUE _timestamp 2020-05-27 14:33:05 authored [InstanceEdit:9664643] Rothfels, Karen, 2019-10-25 catalystActivity [CatalystActivity:5672970] protein serine/threonine/tyrosine kinase activity of RAF activating kinases [plasma membrane] compartment [Compartment:876] plasma membrane created [InstanceEdit:9656210] Rothfels, Karen, 2019-07-27 disease [Disease:9651116] Costello syndrome [Disease:9651118] LEOPARD syndrome [Disease:6802289] Noonan syndrome [Disease:1500689] cancer [Disease:6788675] hypertrophic cardiomyopathy edited [InstanceEdit:9690121] Rothfels, Karen, 2020-05-26 entityFunctionalStatus [EntityFunctionalStatus:9656202] gain_of_function of p21 RAS:GTP:RAF1 mutant heterodimers [plasma membrane] input [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol] [Complex:9656173] p21 RAS:GTP:RAF1 mutant heterodimers [plasma membrane] [Homo sapiens] isChimeric FALSE literatureReference [LiteratureReference:9655488] Germline gain-of-function mutations in RAF1 cause Noonan syndrome [LiteratureReference:444324] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [LiteratureReference:9655515] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation [LiteratureReference:9655889] Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants [LiteratureReference:6802011] Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas [LiteratureReference:6790425] The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation modified [InstanceEdit:9656234] Rothfels, Karen, 2019-07-27 [InstanceEdit:9664644] Rothfels, Karen, 2019-10-25 [InstanceEdit:9665667] Rothfels, Karen, 2019-10-31 [InstanceEdit:9676028] Rothfels, Karen, 2020-02-06 [InstanceEdit:9676768] Rothfels, Karen, 2020-02-20 [InstanceEdit:9689467] Rothfels, Karen, 2020-05-19 [InstanceEdit:9689469] Rothfels, Karen, 2020-05-19 [InstanceEdit:9690121] Rothfels, Karen, 2020-05-26 [InstanceEdit:9690154] Rothfels, Karen, 2020-05-27 [InstanceEdit:9690191] Rothfels, Karen, 2020-05-27 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 name Phosphorylation of RAF1 mutants normalReaction
output [SimpleEntity:29370] ADP [cytosol] [SimpleEntity:29370] ADP [cytosol] [SimpleEntity:29370] ADP [cytosol] [SimpleEntity:29370] ADP [cytosol] [Complex:9656176] p21 RAS:GTP:activated RAF1 mutant heterodimers [plasma membrane] [Homo sapiens] precedingEvent
releaseDate 2020-06-10 reviewed [InstanceEdit:9686656] Gavathiotis, Evripidis, 2020-05-04 reviewStatus [ReviewStatus:9821382] five stars species [Species:48887] Homo sapiens stableIdentifier [StableIdentifier:9656217] R-HSA-9656212.2 summation [Summation:9655954] RAF1 mutants in cancer and germline disorders such as Noonan... (hasEvent) [Pathway:9656223] Signaling by RAF1 mutants [Homo sapiens] (precedingEvent) [Reaction:9656211] MAP2Ks and MAPKs bind to the activated mutant RAF1 complex [Homo sapiens]
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