Reactome | Defective CUBN does not transport GIF:Cbl

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Defective CUBN does not transport GIF:Cbl Show undefined attributes

authored	[InstanceEdit:3296483] Jassal, B, 2013-04-18
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:3296483] Jassal, B, 2013-04-18
crossReference	[DatabaseIdentifier:12020848] Mondo:0001700
dbId	3296462
disease	[Disease:3299649] megaloblastic anemia
displayName	Defective CUBN does not transport GIF:Cbl
edited	[InstanceEdit:3296483] Jassal, B, 2013-04-18
entityFunctionalStatus	[EntityFunctionalStatus:3296488] loss_of_function of CUBN P1297L:AMN [plasma membrane]
eventOf	[Pathway:R-HSA-3359463] Defective CUBN causes MGA1 - Homo sapiens
input	[Complex:R-HSA-3000147] CBLIF:RCbl [extracellular region] [Complex:R-HSA-5654976] CUBN P1297L:AMN [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3296463] Idiopathic chronic megaloblastic anemia in children [LiteratureReference:3296481] Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome [LiteratureReference:3000251] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1 [LiteratureReference:3000253] Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CUBN does not transport GIF:Cbl
normalReaction	[Reaction:R-HSA-3000103] CUBN:AMN binds CBLIF:RCbl
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-3296462
summation	[Summation:3296471] In preparation for internalisation, the gastric intrinsic fa...
updateTrackers	[UpdateTracker:9785382] Update Tracker - [FailedReaction:3296462] Defective CUBN does not transport GIF:Cbl - v52:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9785382] Update Tracker - [FailedReaction:3296462] Defective CUBN does not transport GIF:Cbl - v52:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-3359463] Defective CUBN causes MGA1

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