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Entries
FGFR1c P252X mutants bind ligand with enhanced affinity
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authored
[InstanceEdit:2105031] Rothfels, K, 2012年02月09日
category
binding
compartment
[Compartment:876] plasma membrane
[Compartment:984] extracellular region
created
[InstanceEdit:2023452] Rothfels, K, 2011年12月07日
crossReference
[DatabaseIdentifier:11944892] Mondo:0004992
dbId
2023451
disease
[Disease:1500689] cancer
displayName
FGFR1c P252X mutants bind ligand with enhanced affinity
edited
[InstanceEdit:2252592] Rothfels, K, 2012年05月16日
entityFunctionalStatus
[EntityFunctionalStatus:5654502] gain_of_function of FGFR1c P252X mutants [plasma membrane]
eventOf
[Pathway:R-HSA-1839122] Signaling by activated point mutants of FGFR1 - Homo sapiens
followingEvent
[Reaction:R-HSA-2023455] Autocatalytic phosphorylation of FGFR1c P252X mutant dimers - Homo sapiens
input
2 ×
[DefinedSet:R-HSA-2012029] FGFR1c P252X mutants [plasma membrane]
2 ×
[DefinedSet:R-HSA-189953] FGFR1c-binding FGFs [extracellular region]
[SimpleEntity:R-ALL-190915] HS [extracellular region]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:1614272] Somatic mutations of the protein kinase gene family in human lung cancer
[LiteratureReference:1614268] Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines
[LiteratureReference:2023308] A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
[LiteratureReference:2011820] Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity
[LiteratureReference:2012014] Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
[LiteratureReference:2029802] Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
FGFR1c P252X mutants bind ligand with enhanced affinity
normalReaction
[Reaction:R-HSA-190256] FGFR1c binds to FGF
output
[Complex:R-HSA-2050638] FGFR1c P252X mutant dimers bound to FGFs [plasma membrane]
releaseDate
2012年06月12日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012年05月15日
schemaClass
Reaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2023451
summation
[Summation:2023406] The missense mutation C775G in exon 5 of FGFR1 encodes a Pro...
Referrals
(hasEvent)
[Pathway:R-HSA-1839122] Signaling by activated point mutants of FGFR1
(precedingEvent)
[Reaction:R-HSA-2023455] Autocatalytic phosphorylation of FGFR1c P252X mutant dimers
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