GEN1, Holliday junction 5' flap endonuclease

GEN1, Holliday junction 5' flap endonuclease is a protein that in humans is encoded by the GEN1 gene. [5]

GEN1
Identifiers
Aliases	GEN1, Gen, Holliday junction 5' flap endonuclease, GEN1 Holliday junction 5' flap endonuclease
External IDs	OMIM: 612449 MGI: 2443149 HomoloGene: 35313 GeneCards: GEN1
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p24.2 Start 17,753,858 bp[1] End 17,788,946 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A1.1 Start 11,238,920 bp[2] End 11,265,801 bp[2]
Gene ontology Molecular function • crossover junction endodeoxyribonuclease activity • DNA binding • nuclease activity • endonuclease activity • catalytic activity • hydrolase activity • metal ion binding • endodeoxyribonuclease activity • magnesium ion binding • four-way junction DNA binding • 5'-flap endonuclease activity • protein homodimerization activity • double-stranded DNA binding • single-stranded DNA binding • single-stranded DNA 3'-5' exodeoxyribonuclease activity • double-stranded DNA 3'-5' exodeoxyribonuclease activity • single-stranded DNA 5'-3' exodeoxyribonuclease activity • flap endonuclease activity • double-stranded DNA 5'-3' exodeoxyribonuclease activity • 5'-3' exodeoxyribonuclease activity Cellular component • centrosome • cell nucleus • nucleoplasm Biological process • resolution of recombination intermediates • positive regulation of mitotic cell cycle spindle assembly checkpoint • regulation of centrosome duplication • resolution of mitotic recombination intermediates • nucleic acid phosphodiester bond hydrolysis • cellular response to DNA damage stimulus • DNA repair • double-strand break repair via homologous recombination • replication fork processing • DNA catabolic process, endonucleolytic • DNA catabolic process, exonucleolytic • UV-damage excision repair • signal transduction involved in DNA damage checkpoint Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	348654	209334
Ensembl	ENSG00000178295	ENSMUSG00000051235
UniProt	Q17RS7	Q8BMI4
RefSeq (mRNA)	NM_001130009 NM_182625	NM_177331
RefSeq (protein)	NP_001123481 NP_872431	NP_796305
Location (UCSC)	Chr 2: 17.75 – 17.79 Mb	Chr 12: 11.24 – 11.27 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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].

References

1. GRCh38: Ensembl release 89: ENSG00000178295 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000051235 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GEN1, Holliday junction 5' flap endonuclease". Retrieved 2017-10-16.

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.