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 Like DNA Glycosylase 1) is a Protein Coding gene. Diseases associated with NEIL1 include Cockayne Syndrome and Spinocerebellar Ataxia Type 1 With Axonal Neuropathy. Among its related pathways are DNA Double-Strand Break Repair and Recognition and association of DNA glycosylase with site containing an affected pyrimidine. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is NEIL3.
UniProtKB/Swiss-Prot Summary 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.