NTHL1 D239Y does not cleave dihydrouracil (DHU)

Stable Identifier
R-HSA-9630055
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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NTHL1 D239Y does not cleave dihydrouracil (DHU)
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In the NTHL1 D239Y variant, the substitution of aspartic acid residue at position 239 with tyrosine results in an NTHL1 protein that is still able to bind to damaged DNA containing dihydrouracil (DHU), but is unable to cleave DHU (Galick et al. 2013).
Literature References
PubMed ID Title Journal Year
23940330 Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation

Galick, HA, Sweasy, JB, Kathe, S, Liu, M, Wallace, SS, Kidane, D, Robey-Bond, S

Proc. Natl. Acad. Sci. U.S.A. 2013
Participants
Input
Participates
as an event of
Normal reaction
Cleavage of dihydrouracil by NTHL1 glycosylase (Homo sapiens)
Functional status

Loss of function of NTHL1 D239Y:DHU-dsDNA [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M  (2018-12-13)
Reviewed
Rivera Polo, B  (2019-02-19)
Doetsch, PW  (2019-01-31)
de Voer, RM  (2019-02-21)
Kuiper, RP  (2019-01-14)
Created
Orlic-Milacic, M  (2018-11-28)
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