Reactome | CFTR F508del [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
componentOf	[Complex:R-HSA-9700270] CFTR F508del:CFTR correctors [endoplasmic reticulum membrane] - Homo sapiens
consumedByEvent	[Reaction:R-HSA-9700266] CFTR F508del binds CFTR correctors - Homo sapiens [Reaction:R-HSA-8866857] CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation - Homo sapiens
created	[InstanceEdit:8866835] Rothfels, Karen, 2016-04-04
crossReference	[DatabaseIdentifier:12020976] Mondo:0009061
dbId	8866834
disease	[Disease:5678942] cystic fibrosis
displayName	CFTR F508del [endoplasmic reticulum membrane]
endCoordinate	1480
hasModifiedResidue	[FragmentDeletionModification:5678982] Deletion of residues 508 to 508
inDisease	true
maxDepth	1
modified	[InstanceEdit:8871616] Weiser, JD
name	CFTR F508del Cystic fibrosis transmembrane conductance regulator CFTR_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P13569] UniProt:P13569 CFTR
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-8866834
startCoordinate	1

(hasComponent)	[Complex:R-HSA-9700270] CFTR F508del:CFTR correctors [endoplasmic reticulum membrane] [Complex:R-HSA-8866848] CFTR F508del:ERAD complex [endoplasmic reticulum membrane]
(input)	[Reaction:R-HSA-9700266] CFTR F508del binds CFTR correctors [Reaction:R-HSA-8866857] CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation
(diseaseEntity)	[EntityFunctionalStatus:9630127] gain_of_function of CFTR F508del [endoplasmic reticulum membrane]

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