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Schema
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Reaction
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Entries
Phosphorylation of RAF1 mutants
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authored
[InstanceEdit:9664643] Rothfels, Karen, 2019年10月25日
catalystActivity
[CatalystActivity:5672970] protein serine/threonine/tyrosine kinase activity of RAF activating kinases [plasma membrane]
category
transition
compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:9656210] Rothfels, Karen, 2019年07月27日
crossReference
[DatabaseIdentifier:11944933] Mondo:0005045
[DatabaseIdentifier:11944930] Mondo:0007893
[DatabaseIdentifier:11944924] Mondo:0018997
[DatabaseIdentifier:11944929] Mondo:0009026
[DatabaseIdentifier:11944892] Mondo:0004992
dbId
9656212
disease
[Disease:9651116] Costello syndrome
[Disease:9651118] LEOPARD syndrome
[Disease:6802289] Noonan syndrome
[Disease:1500689] cancer
[Disease:6788675] hypertrophic cardiomyopathy
displayName
Phosphorylation of RAF1 mutants
edited
[InstanceEdit:9690121] Rothfels, Karen, 2020年05月26日
entityFunctionalStatus
[EntityFunctionalStatus:9656202] gain_of_function of p21 RAS:GTP:RAF1 mutant heterodimers [plasma membrane]
eventOf
[Pathway:R-HSA-9656223] Signaling by RAF1 mutants - Homo sapiens
followingEvent
[Reaction:R-HSA-9656211] MAP2Ks and MAPKs bind to the activated mutant RAF1 complex - Homo sapiens
input
4 ×
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[Complex:R-HSA-9656173] p21 RAS:GTP:RAF1 mutant heterodimers [plasma membrane]
isChimeric
false
isInDisease
true
isInferred
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
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Phosphorylation of RAF1 mutants
normalReaction
[Reaction:R-HSA-5672969] Phosphorylation of RAF
output
4 ×
[SimpleEntity:R-ALL-29370] ADP [cytosol]
[Complex:R-HSA-9656176] p21 RAS:GTP:activated RAF1 mutant heterodimers [plasma membrane]
precedingEvent
[Reaction:R-HSA-9656213] RAF1 mutants show enhanced heterodimerization with BRAF - Homo sapiens
releaseDate
2020年06月10日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:9686656] Gavathiotis, Evripidis, 2020年05月04日
schemaClass
Reaction
species
[Species:48887] Homo sapiens
stId
R-HSA-9656212
summation
[Summation:9655954] RAF1 mutants in cancer and germline disorders such as Noonan...
Referrals
(hasEvent)
[Pathway:R-HSA-9656223] Signaling by RAF1 mutants
(precedingEvent)
[Reaction:R-HSA-9656211] MAP2Ks and MAPKs bind to the activated mutant RAF1 complex
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