NTHL1

Chr 16p13.3

nth like DNA glycosylase 1

Aliases:: NTH1, OCTS3
MANE:: ENST00000651570.2

OMIM: 602656 ↗NCBI: 4913 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NTHL1 · P78549

v62025-08-01

Predicted Aligned Error matrix for NTHL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

304 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)2%
Low(50–70)3%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Adult solid tumours for rare disease
BIALLELIC, autosomal or pseudoautosomal
Colorectal cancer pertinent cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
GI tract tumours
BIALLELIC, autosomal or pseudoautosomal
Inherited polyposis and early onset colorectal cancer - germline testing
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

familial adenomatous polyposis 3
0.75
attenuated familial adenomatous polyposis
0.71
cancer
0.58
Inherited cancer-predisposing syndrome
0.57
hereditary neoplastic syndrome
0.57
NTHL1-deficiency tumor predisposition syndrome
0.57
colorectal cancer
0.55
breast carcinoma
0.21
prostate adenocarcinoma
0.19
head and neck squamous cell carcinoma
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Endonuclease III-like protein 1

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. Also has 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