Aliases for FAN1 Gene
External Ids for FAN1 Gene
Previous HGNC Symbols for FAN1 Gene
Previous GeneCards Identifiers for FAN1 Gene
This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
GeneCards Summary for FAN1 Gene
FAN1 (FANCD2 And FANCI Associated Nuclease 1) is a Protein Coding gene. Diseases associated with FAN1 include Interstitial Nephritis, Karyomegalic and Lynch Syndrome. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and hydrolase activity, acting on ester bonds.
UniProtKB/Swiss-Prot Summary for FAN1 Gene
Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).