Reactome | FGFR1 N546K [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR1 N546K [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1614378] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:12021290] Mondo:0007793 [DatabaseIdentifier:2023321] COSMIC:COSV58329537
dbId	1614377
disease	[Disease:1625207] hypochondroplasia [Disease:1500689] cancer [Disease:1247632] glioblastoma
displayName	FGFR1 N546K [plasma membrane]
endCoordinate	822
hasModifiedResidue	[ReplacedResidue:1614376] L-asparagine 546 replaced with L-lysine
inDisease	true
literatureReference	[LiteratureReference:1614269] Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas [LiteratureReference:1614276] The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations
maxDepth	1
memberOf	[CandidateSet:R-HSA-2012030] FGFR1 mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
modified	[InstanceEdit:9962055] Matthews, Lisa, 2025-07-30
name	FGFR1 N546K
referenceEntity	[ReferenceGeneProduct:uniprot:P11362] UniProt:P11362 FGFR1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1614377
startCoordinate	22
summation	[Summation:1614379] weak constitutive activation of ligand independent binding b...
updateTrackers	[UpdateTracker:9964932] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease] [UpdateTracker:9890989] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9964932] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease] [UpdateTracker:9890989] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v52:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2012030] FGFR1 mutants with enhanced kinase activity [plasma membrane]
(hasComponent)	[Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane]