Reactome | CBL E366_Q409del [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9706180] Rothfels, Karen, 2020-11-04
crossReference	[DatabaseIdentifier:9832436] COSMIC:COSM1169426
dbId	9706179
disease	[Disease:9630839] acute myeloid leukemia
displayName	CBL E366_Q409del [cytosol]
endCoordinate	906
hasModifiedResidue	[FragmentDeletionModification:9706026] Deletion of residues 366 to 409
inDisease	true
literatureReference	[LiteratureReference:9706115] Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia [LiteratureReference:9706063] CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes
memberOf	[CandidateSet:R-HSA-9706222] CBL mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:9832438] Orlic-Milacic, Marija, 2023-04-01
name	CBL E366_Q409del CBL E3 ubiquitin protein ligase Signal transduction protein CBL Proto-oncogene c-CBL Casitas B-lineage lymphoma proto-oncogene del exon 8
referenceEntity	[ReferenceGeneProduct:51488] UniProt:P22681 CBL
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9706179
startCoordinate	1

(hasMember)

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