Reactome | Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine

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Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine Show undefined attributes

authored	[InstanceEdit:9608305] Orlic-Milacic, Marija, 2018-05-11
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9608289] Orlic-Milacic, Marija, 2018-05-11
dbId	9608288
disease	[Disease:1500689] cancer [Disease:4791250] colorectal cancer [Disease:9605309] familial adenomatous polyposis
displayName	Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine
edited	[InstanceEdit:9612698] Orlic-Milacic, Marija, 2018-06-29
entityFunctionalStatus	[EntityFunctionalStatus:9608299] loss_of_function of MUTYH binding LOF mutants [nucleoplasm]
eventOf	[Pathway:R-HSA-9608287] Defective MUTYH substrate binding - Homo sapiens
input	[GenomeEncodedEntity:R-HSA-110198] (8oxoG:Ade)-dsDNA [nucleoplasm] [DefinedSet:R-HSA-9608300] MUTYH binding LOF mutants [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9606250] Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes [LiteratureReference:9605324] Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair [LiteratureReference:9606347] Characterization of mutant MUTYH proteins associated with familial colorectal cancer [LiteratureReference:9606564] MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay [LiteratureReference:9606605] Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis [LiteratureReference:9606249] Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH [LiteratureReference:9608327] Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH [LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine
normalReaction	[Reaction:R-HSA-110237] MUTYH mediated recognition and binding of an adenine opposite to an 8-oxoguanine
releaseDate	2018-09-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9612701] Nakabeppu, Yusaku, 2018-06-28
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9608288
summation	[Summation:9608296] MUTYH alpha-3 isoform (MUTYH-3) mutants MUTYH-3 Y165C and MU...

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[Pathway:R-HSA-9608287] Defective MUTYH substrate binding