NEIL1

Description

The NEIL1 (nei like DNA glycosylase 1) is a protein-coding gene located on chromosome 15.

NEIL1 (Endonuclease VIII-like 1) is an enzyme involved in DNA repair, specifically base excision repair. It is encoded by the NEIL1 gene in humans. NEIL1 belongs to a family of DNA glycosylases similar to the bacterial Fpg/Nei family. These glycosylases initiate DNA repair by removing damaged bases caused by reactive oxygen species (ROS), like oxidized pyrimidines, formamidopyrimidines, and thymine residues oxidized at the methyl group, including both stereoisomers of thymine glycol. NEIL1 also removes lesions from single-stranded DNA, bubble DNA, and forked DNA structures. Its activity is linked to the cell cycle and it interacts with proteins like PCNA and FEN-1, suggesting a role in replication-associated DNA repair. NEIL1 is frequently hypermethylated in cancers, particularly head and neck squamous cell carcinoma (HNSCC) and non-small cell lung cancer (NSCLC), leading to reduced expression and potentially contributing to tumor development.

NEIL1 is involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. It acts as a DNA glycosylase that recognizes and removes damaged bases, particularly oxidized pyrimidines such as thymine glycol, formamidopyrimidine (Fapy), and 5-hydroxyuracil. NEIL1 also has marginal activity towards 8-oxoguanine. It possesses AP (apurinic/apyrimidinic) lyase activity, introducing nicks in the DNA strand by cleaving the DNA backbone through beta-delta elimination. This generates a single-strand break at the site of the removed base, leaving both 3'- and 5'-phosphates. NEIL1 also exhibits DNA glycosylase/lyase activity towards mismatched uracil and thymine, especially in U:C and T:C mismatches. It specifically binds 5-hydroxymethylcytosine (5hmC), suggesting a role as a specific reader of 5hmC.

NEIL1 is also known as FPG1, NEI1, hFPG1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing