GEN1, Holliday junction 5' flap endonuclease

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
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GEN1, Holliday junction 5' flap endonuclease is a protein that in humans is encoded by the GEN1 gene.

Function

This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].

Further reading

• Ip SC, Rass U, Blanco MG, Flynn HR, Skehel JM, West SC (2008). "Identification of Holliday junction resolvases from humans and yeast". Nature. 456 (7220): 357–61. doi:10.1038/nature07470. PMID 19020614.
• Lorenz A, West SC, Whitby MC (2010). "The human Holliday junction resolvase GEN1 rescues the meiotic phenotype of a Schizosaccharomyces pombe mus81 mutant". Nucleic Acids Res. 38 (6): 1866–73. doi:10.1093/nar/gkp1179. PMC 2847240. PMID 20040574.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D, Stratton MR, Rahman N (2010). "Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283–8. doi:10.1007/s10549-010-0949-1. PMC 3632835. PMID 20512659.
• Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D, Stratton MR, Rahman N (2010). "Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283–8. doi:10.1007/s10549-010-0949-1. PMC 3632835. PMID 20512659.
• Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert MR, Aldape KD, Xing J, Wu X, Wei Q, Bondy ML (2010). "Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk". Carcinogenesis. 31 (10): 1762–9. doi:10.1093/carcin/bgq141. PMC 2981459. PMID 20610542.
• Rass U, Compton SA, Matos J, Singleton MR, Ip SC, Blanco MG, Griffith JD, West SC (2010). "Mechanism of Holliday junction resolution by the human GEN1 protein". Genes Dev. 24 (14): 1559–69. doi:10.1101/gad.585310. PMC 2904945. PMID 20634321.
• Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A (2010). "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study". Mutat. Res. 694 (1–2): 13–9. doi:10.1016/j.mrfmmm.2010.08.006. PMID 20800603.
• Rodrigue A, Coulombe Y, Jacquet K, Gagné JP, Roques C, Gobeil S, Poirier G, Masson JY (2013). "The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy". J. Cell Sci. 126 (Pt 1): 348–59. doi:10.1242/jcs.114595. PMID 23108668.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.