Reactome Pathway Database
Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Reactome Pathway Database
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
Schema
>
Pathway
>
Entries
Defective Base Excision Repair Associated with MUTYH
Show undefined attributes
Go to Details
authored
[InstanceEdit:9608305] Orlic-Milacic, Marija, 2018年05月11日
created
[InstanceEdit:9605307] Orlic-Milacic, Marija, 2018年04月09日
crossReference
[DatabaseIdentifier:11945099] Mondo:0021055
[DatabaseIdentifier:11944899] Mondo:0005575
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:9606207] OMIM:608456
dbId
9605310
disease
[Disease:1500689] cancer
[Disease:4791250] colorectal cancer
[Disease:9605309] familial adenomatous polyposis
displayName
Defective Base Excision Repair Associated with MUTYH
doi
10.3180/R-HSA-9605310.1
edited
[InstanceEdit:9612698] Orlic-Milacic, Marija, 2018年06月29日
eventOf
[Pathway:R-HSA-9605308] Diseases of Base Excision Repair - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[Pathway:R-HSA-9608287] Defective MUTYH substrate binding - Homo sapiens
[Pathway:R-HSA-9608290] Defective MUTYH substrate processing - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2023年06月07日
literatureReference
[LiteratureReference:9605478] Colorectal cancer and inherited mutations in base-excision repair
[LiteratureReference:9605488] Role of MUTYH in human cancer
[LiteratureReference:9606191] MUTYH gene expression and alternative splicing in controls and polyposis patients
[LiteratureReference:9606203] MUTYH-associated polyposis (MAP)
[LiteratureReference:9606232] A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts
[LiteratureReference:9606613] Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles
[LiteratureReference:9606610] Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition
[LiteratureReference:9606648] Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer
[LiteratureReference:9606651] Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis
[LiteratureReference:9606652] Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase
[LiteratureReference:5635925] Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria
[LiteratureReference:9606738] MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
[LiteratureReference:9606750] Understanding the role of the Q338H MUTYH variant in oxidative damage repair
[LiteratureReference:9606752] MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-terminal domain
[LiteratureReference:9606759] Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer
[LiteratureReference:9606834] A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus
maxDepth
3
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective Base Excision Repair Associated with MUTYH
releaseDate
2018年09月12日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:9612701] Nakabeppu, Yusaku, 2018年06月28日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-9605310
summation
[Summation:9605476] MUTYH gene is located on chromosome 1 and encodes a DNA glyc...
updateTrackers
[UpdateTracker:9778445] Update Tracker - [Pathway:9605310] Defective Base Excision Repair Associated with MUTYH - v68:[updateIndirectRLE]
[UpdateTracker:9835721] Update Tracker - [Pathway:9605310] Defective Base Excision Repair Associated with MUTYH - v85:[updateContainedPathway, updateIndirectRLE]
Referrals
(updatedInstance)
[UpdateTracker:9778445] Update Tracker - [Pathway:9605310] Defective Base Excision Repair Associated with MUTYH - v68:[updateIndirectRLE]
[UpdateTracker:9835721] Update Tracker - [Pathway:9605310] Defective Base Excision Repair Associated with MUTYH - v85:[updateContainedPathway, updateIndirectRLE]
(hasEvent)
[Pathway:R-HSA-9605308] Diseases of Base Excision Repair
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text
Download
Close
AltStyle
によって変換されたページ
(->オリジナル)
/
アドレス:
モード:
デフォルト
音声ブラウザ
ルビ付き
配色反転
文字拡大
モバイル