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Entries
Signaling by activated point mutants of FGFR1
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authored
[InstanceEdit:2105031] Rothfels, K, 2012年02月09日
compartment
[Compartment:70101] cytosol
[Compartment:984] extracellular region
[Compartment:876] plasma membrane
created
[InstanceEdit:1839121] Rothfels, K, 2011年10月27日
crossReference
[DatabaseIdentifier:12757882] BioModels Database:BIOMD0000000664
[DatabaseIdentifier:11944971] Mondo:0005497
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:12757884] BioModels Database:BIOMD0000000883
dbId
1839122
disease
[Disease:2032940] bone development disease
[Disease:1500689] cancer
displayName
Signaling by activated point mutants of FGFR1
edited
[InstanceEdit:2252592] Rothfels, K, 2012年05月16日
eventOf
[Pathway:R-HSA-1839124] FGFR1 mutant receptor activation - Homo sapiens
hasDiagram
false
hasEHLD
false
hasEvent
[Reaction:R-HSA-2023451] FGFR1c P252X mutants bind ligand with enhanced affinity - Homo sapiens
[Reaction:R-HSA-2023455] Autocatalytic phosphorylation of FGFR1c P252X mutant dimers - Homo sapiens
[Reaction:R-HSA-2023456] Dimerization of FGFR1 point mutants with enhanced kinase activity - Homo sapiens
[Reaction:R-HSA-2023460] Autocatalytic phosphorylation of FGFR1 mutants with enhanced kinase activity - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2015年07月02日
literatureReference
[LiteratureReference:2023308] A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
[LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
[LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
[LiteratureReference:2054031] A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
[LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
[LiteratureReference:1614268] Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines
[LiteratureReference:1614272] Somatic mutations of the protein kinase gene family in human lung cancer
[LiteratureReference:1614269] Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas
[LiteratureReference:1614246] Comprehensive genomic characterization defines human glioblastoma genes and core pathways
[LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing
[LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes
[LiteratureReference:2046359] Syndromic craniosynostosis: from history to hydrogen bonds
[LiteratureReference:2045066] Fibroblast growth factors and their receptors in cancer
[LiteratureReference:1307938] Fibroblast growth factor signalling: from development to cancer
maxDepth
2
modified
[InstanceEdit:12757879] Weiser, Joel, 2025年08月05日
name
Signaling by activated point mutants of FGFR1
releaseDate
2012年06月12日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012年05月15日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-1839122
summation
[Summation:2054061] Unlike FGFR2 and FGFR3, FGFR1 appears not to be a frequent t...
updateTrackers
[UpdateTracker:9784581] Update Tracker - [Pathway:1839122] Signaling by activated point mutants of FGFR1 - v53:[modifyText]
Referrals
(updatedInstance)
[UpdateTracker:9784581] Update Tracker - [Pathway:1839122] Signaling by activated point mutants of FGFR1 - v53:[modifyText]
(hasEvent)
[Pathway:R-HSA-1839124] FGFR1 mutant receptor activation
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