Reactome | Loss-of-function NF1 variants don't stimulate RAS GTPase activity

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Loss-of-function NF1 variants don't stimulate RAS GTPase activity Show undefined attributes

authored	[InstanceEdit:6802811] Rothfels, Karen, 2015-08-10
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:6802839] Rothfels, Karen, 2015-10-02
crossReference	[DatabaseIdentifier:12020789] Mondo:0021061
dbId	6802837
disease	[Disease:1500689] cancer [Disease:6802412] neurofibromatosis
displayName	Loss-of-function NF1 variants don't stimulate RAS GTPase activity
edited	[InstanceEdit:6802811] Rothfels, Karen, 2015-08-10
entityFunctionalStatus	[EntityFunctionalStatus:6802838] loss_of_function of NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane]
eventOf	[Pathway:R-HSA-6802953] RAS signaling downstream of NF1 loss-of-function variants - Homo sapiens
input	[Complex:R-HSA-9665332] NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5658234] Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis [LiteratureReference:6790425] The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation [LiteratureReference:1614246] Comprehensive genomic characterization defines human glioblastoma genes and core pathways [LiteratureReference:881880] An integrated genomic analysis of human glioblastoma multiforme [LiteratureReference:5658423] Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis [LiteratureReference:6802107] Somatic mutations affect key pathways in lung adenocarcinoma [LiteratureReference:6802065] Neurofibromatosis type 1 gene mutations in neuroblastoma [LiteratureReference:6802054] NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome [LiteratureReference:6799049] Elucidating distinct roles for NF1 in melanomagenesis [LiteratureReference:6801993] Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients [LiteratureReference:6801997] Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis [LiteratureReference:5658427] Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells [LiteratureReference:6802076] Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 [LiteratureReference:6802011] Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas [LiteratureReference:6802033] Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence [LiteratureReference:6802015] Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Loss-of-function NF1 variants don't stimulate RAS GTPase activity
normalReaction	[Reaction:R-HSA-5658231] RAS GAPs stimulate RAS GTPase activity
releaseDate	2016-09-19
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8933498] Stephens, Robert M, 2016-08-05
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-6802837
summation	[Summation:6802226] NF1 is a RAS GTPase activating protein (GAP) that promotes t...
updateTrackers	[UpdateTracker:9777461] Update Tracker - [FailedReaction:6802837] Loss-of-function NF1 variants don't stimulate RAS GTPase activity - v71:[add_removeInput]

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(updatedInstance)	[UpdateTracker:9777461] Update Tracker - [FailedReaction:6802837] Loss-of-function NF1 variants don't stimulate RAS GTPase activity - v71:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-6802953] RAS signaling downstream of NF1 loss-of-function variants

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