NTHL1
Developmental stage
Expression levels are regulated during the cell cycle with increased levels during early and mid S-phase.
Function
Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:29610152, PubMed:9927729). The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.
Involvement in disease
Familial adenomatous polyposis 3
FAP3
A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by TRIM26; leading to proteasomal degradation.
Sequence Similarities
Belongs to the Nth/MutY family.
Tissue Specificity
Widely expressed with highest levels in heart and lowest levels in lung and liver.
Cellular localization
- Nucleus
- Mitochondrion
Alternative names
NTH1, OCTS3, NTHL1, Endonuclease III-like protein 1, hNTH1, Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase, DNA glycosylase/AP lyase