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Entries
Loss-of-function NF1 variants don't stimulate RAS GTPase activity
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authored
[InstanceEdit:6802811] Rothfels, Karen, 2015年08月10日
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:6802839] Rothfels, Karen, 2015年10月02日
crossReference
[DatabaseIdentifier:11944935] Mondo:0021061
[DatabaseIdentifier:11944892] Mondo:0004992
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年08月10日
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年03月08日
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年09月19日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8933498] Stephens, Robert M, 2016年08月05日
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]
Referrals
(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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