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Details on Person FGFR1c P252X mutants bind ligand with enhanced affinity

Class:IdReaction:2023451
_displayNameFGFR1c P252X mutants bind ligand with enhanced affinity
_doReleaseTRUE
_timestamp2018-01-26 17:21:28
authored[InstanceEdit:2105031] Rothfels, K, 2012-02-09
compartment[Compartment:876] plasma membrane
[Compartment:984] extracellular region
created[InstanceEdit:2023452] Rothfels, K, 2011-12-07
disease[Disease:1500689] cancer
edited[InstanceEdit:2252592] Rothfels, K, 2012-05-16
entityFunctionalStatus[EntityFunctionalStatus:5654502] gain_of_function of FGFR1c P252X mutants [plasma membrane]
input[DefinedSet:2012029] FGFR1c P252X mutants [plasma membrane] [Homo sapiens]
[DefinedSet:2012029] FGFR1c P252X mutants [plasma membrane] [Homo sapiens]
[DefinedSet:189953] FGFR1c-binding FGFs [extracellular region] [Homo sapiens]
[DefinedSet:189953] FGFR1c-binding FGFs [extracellular region] [Homo sapiens]
[SimpleEntity:190915] HS [extracellular region]
isChimericFALSE
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
modified[InstanceEdit:2053909] Rothfels, K, 2012-01-12
[InstanceEdit:2054065] Rothfels, K, 2012-01-12
[InstanceEdit:2066714] Rothfels, K, 2012-01-25
[InstanceEdit:2066790] Rothfels, K, 2012-01-25
[InstanceEdit:2071878] Rothfels, K, 2012-01-26
[InstanceEdit:2105616] Rothfels, K, 2012-02-10
[InstanceEdit:2123547] Rothfels, K, 2012-02-14
[InstanceEdit:2156385] Rothfels, K, 2012-02-28
[InstanceEdit:2248846] Rothfels, K, 2012-05-15
[InstanceEdit:2275109] Rothfels, K, 2012-05-25
[InstanceEdit:5654501] Rothfels, Karen, 2014-12-03
[InstanceEdit:9035997] Rothfels, Karen, 2018-01-26
[InstanceEdit:9036004] Rothfels, Karen, 2018-01-26
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameFGFR1c P252X mutants bind ligand with enhanced affinity
normalReaction
output[Complex:2050638] FGFR1c P252X mutant dimers bound to FGFs [plasma membrane] [Homo sapiens]
releaseDate2012-06-12
reviewed[InstanceEdit:2248845] Ezzat, S, 2012-05-15
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:2295258] R-HSA-2023451.3
summation[Summation:2023406] The missense mutation C775G in exon 5 of FGFR1 encodes a Pro...
(hasEvent)[Pathway:1839122] Signaling by activated point mutants of FGFR1 [Homo sapiens]
(precedingEvent)[Reaction:2023455] Autocatalytic phosphorylation of FGFR1c P252X mutant dimers [Homo sapiens]
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