NEIL1 G83D does not cleave DHU

Stable Identifier
R-HSA-9628737
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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NEIL1 G83D does not cleave DHU
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NEIL1 G83D variant is a low frequency polymorphism, estimated to occur in ~1% of US population (Roy et al. 2007), and is associated with primary sclerosing cholangitis and cholangiocarcinoma (Forsbring et al. 2009). NEIL G83D shows 3-8 fold reduced activity in excising DHU (dihydrouracil) from damaged DNA (Prakash et al. 2014).
Literature References
PubMed ID Title Journal Year
24382305 Genome and cancer single nucleotide polymorphisms of the human NEIL1 DNA glycosylase: activity, structure, and the effect of editing

Prakash, A, Carroll, BL, Sweasy, JB, Wallace, SS, Doublié, S

DNA Repair (Amst.) 2014
Participants
Input
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as an event of
Normal reaction
NEIL1 cleaves DHU from damaged DNA (Homo sapiens)
Functional status

Loss of function of NEIL1 G83D:DHU-dsDNA [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
Mondo
Authored
Orlic-Milacic, M  (2018-11-27)
Reviewed
Sampath, H  (2019-01-03)
Created
Orlic-Milacic, M  (2018-11-13)
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