Reactome | NTHL1 D239Y does not cleave dihydrouracil (DHU)

Schema > FailedReaction > Entries

authored	[InstanceEdit:9632050] Orlic-Milacic, Marija, 2018-12-13
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9630054] Orlic-Milacic, Marija, 2018-11-27
dbId	9630055
disease	[Disease:1500689] cancer
displayName	NTHL1 D239Y does not cleave dihydrouracil (DHU)
edited	[InstanceEdit:9635155] Orlic-Milacic, Marija, 2019-01-17
entityFunctionalStatus	[EntityFunctionalStatus:9630231] loss_of_function of NTHL1 D239Y:DHU-dsDNA [nucleoplasm]
eventOf	[Pathway:R-HSA-9630221] Defective NTHL1 substrate processing - Homo sapiens
input	[Complex:R-HSA-9630232] NTHL1 D239Y:DHU-dsDNA [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9630031] Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	NTHL1 D239Y does not cleave dihydrouracil (DHU)
normalReaction	[Reaction:R-HSA-110227] Cleavage of dihydrouracil by NTHL1 glycosylase
releaseDate	2019-03-20
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9635156] Kuiper, Roland P, 2019-01-14 [InstanceEdit:9635705] Doetsch, Paul W, 2019-01-31 [InstanceEdit:9637772] Rivera Polo, Barbara, 2019-02-19 [InstanceEdit:9637988] de Voer, Richarda M, 2019-02-21
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9630055
summation	[Summation:9630251] In the NTHL1 D239Y variant, the substitution of aspartic aci...

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