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Details on Person FGFR1c P252X mutants bind ligand with enhanced affinity
Class:Id Reaction:2023451
_displayName FGFR1c P252X mutants bind ligand with enhanced affinity
_doRelease TRUE
_timestamp 2018-01-26 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]
isChimeric 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
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
name FGFR1c P252X mutants bind ligand with enhanced affinity
normalReaction
output [Complex:2050638] FGFR1c P252X mutant dimers bound to FGFs [plasma membrane] [Homo sapiens]
releaseDate 2012-06-12
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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