Aliases for FAN1 Gene
External Ids for FAN1 Gene
Previous HGNC Symbols for FAN1 Gene
Previous GeneCards Identifiers for FAN1 Gene
This gene encodes a member of the myotubularin-related class 1 cysteine-based protein tyrosine phosphatases. The encoded protein may be catalytically inactive. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2009]
GeneCards Summary for FAN1 Gene
FAN1 (FANCD2/FANCI-Associated Nuclease 1) is a Protein Coding gene. Diseases associated with FAN1 include interstitial nephritis, karyomegalic and chronic kidney failure. Among its related pathways are Fanconi anemia pathway (KEGG). GO annotations related to this gene include magnesium ion binding and 5-3 exonuclease activity.
UniProtKB/Swiss-Prot 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).