Reactome | KIT K509I [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9680184] KIT K509I dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-9680184] KIT K509I dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:9680176] Rothfels, Karen, 2020-03-25
crossReference	[DatabaseIdentifier:12021301] Mondo:0002724 [DatabaseIdentifier:9680006] COSMIC:COSM28064
dbId	9680177
disease	[Disease:1500689] cancer [Disease:9669013] mast cell neoplasm [Disease:9630839] acute myeloid leukemia [Disease:9661830] gastrointestinal stromal tumor
displayName	KIT K509I [plasma membrane]
endCoordinate	976
hasModifiedResidue	[ReplacedResidue:9680178] L-lysine 509 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:9679981] Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations
maxDepth	1
memberOf	[CandidateSet:R-HSA-9680195] extracellular domain mutants of KIT [plasma membrane] - Homo sapiens
name	KIT K509I
referenceEntity	[ReferenceGeneProduct:uniprot:P10721] UniProt:P10721 KIT
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9680177
startCoordinate	26

(hasComponent)	[Complex:R-HSA-9680184] KIT K509I dimer [plasma membrane]
(hasMember)	[CandidateSet:R-HSA-9680195] extracellular domain mutants of KIT [plasma membrane]

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