Aliases for NEIL1 Gene
External Ids for NEIL1 Gene
Previous GeneCards Identifiers for NEIL1 Gene
This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
GeneCards Summary for NEIL1 Gene
NEIL1 (Nei Endonuclease VIII-Like 1 (E. Coli)) is a Protein Coding gene. Diseases associated with NEIL1 include familial colorectal cancer and steroid-resistant nephrotic syndrome. Among its related pathways are Resolution of Abasic Sites (AP sites). GO annotations related to this gene include protein C-terminus binding and DNA-(apurinic or apyrimidinic site) lyase activity.
UniProtKB/Swiss-Prot for NEIL1 Gene
Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3- and 5-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and T:C mismatches. Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.