The version of SLX4 present in humans and other mammals acts as a sort of scaffold upon which other proteins form several different multiprotein complexes. The SLX1-SLX4 complex acts as a Holliday junction resolvase. As such, the complex cleaves the links between two homologous chromosomes that form during homologous recombination. This allows the two linked chromosomes to resolve into two unconnected double-strand DNA molecules.[8] The SLX4 interacting protein interacts with SLX4 in the DNA repair process, specifically in interstrand crosslink repair.[9] SLX4 also associates with RAD1, RAD10 and SAW1 in the single-strand annealing pathway of homologous recombination.[10] The DNA repair function of SLX4 is involved in sensitivity to proton beam radiation.[11]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000188827 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000039738 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Klein HL, Symington LS (July 2009). "Breaking up just got easier to do". Cell. 138 (1): 20–22. doi:10.1016/j.cell.2009.06.039. PMID 19596231. S2CID 15429205.
^Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A (February 2011). "Mutations of the SLX4 gene in Fanconi anemia". Nature Genetics. 43 (2): 142–146. doi:10.1038/ng.750. PMC3345287. PMID 21240275.
^van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC3218837. PMID 21722353.
^Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW (July 2009). "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair". Cell. 138 (1): 63–77. doi:10.1016/j.cell.2009.06.030. PMC2720686. PMID 19596235.
^Zhang H, Chen Z, Ye Y, Ye Z, Cao D, Xiong Y, et al. (November 2019). "SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair". Nucleic Acids Research. 47 (19): 10181–10201. doi:10.1093/nar/gkz769. PMC6821277. PMID 31495888.
^Mimitou EP, Symington LS (September 2009). "DNA end resection: many nucleases make light work". DNA Repair. 8 (9): 983–995. doi:10.1016/j.dnarep.2009.04.017. PMC2760233. PMID 19473888.
^Liu Q, Underwood TS, Kung J, Wang M, Lu HM, Paganetti H, et al. (May 2016). "Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation". International Journal of Radiation Oncology, Biology, Physics. 95 (1): 78–85. doi:10.1016/j.ijrobp.2016.01.046. PMC4889010. PMID 27084631.
External linksedit
April 16, 2024
slx4, also, known, btbd12, fancp, protein, involved, repair, where, important, roles, final, steps, homologous, recombination, mutations, gene, associated, with, disease, fanconi, anemia, available, structurespdbortholog, search, pdbe, rcsblist, codes4m7c, 4uy. SLX4 also known as BTBD12 and FANCP is a protein involved in DNA repair where it has important roles in the final steps of homologous recombination 5 Mutations in the gene are associated with the disease Fanconi anemia 6 7 SLX4Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4M7C 4UYI 4ZOUIdentifiersAliasesSLX4 BTBD12 FANCP MUS312 SLX4 structure specific endonuclease subunitExternal IDsOMIM 613278 MGI 106299 HomoloGene 23770 GeneCards SLX4Gene location Human Chr Chromosome 16 human 1 Band16p13 3Start3 581 181 bp 1 End3 611 606 bp 1 Gene location Mouse Chr Chromosome 16 mouse 2 Band16 A1 16 2 34 cMStart3 979 105 bp 2 End4 003 770 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpancreatic ductal cellstromal cell of endometriumtibialis anterior muscleganglionic eminencesural nerveprefrontal cortexbloodappendixbone marrow cellsBrodmann area 9Top expressed inspermatocytespermatidsecondary oocyteseminiferous tubulevisual cortexyolk sacsuperior frontal gyrusthymusneural tubeproximal tubuleMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding enzyme activator activity endodeoxyribonuclease activity crossover junction endodeoxyribonuclease activity 5 flap endonuclease activity 3 flap endonuclease activityCellular componentERCC4 ERCC1 complex nucleoplasm cell junction Holliday junction resolvase complex nucleus telomere cytosol Slx1 Slx4 complexBiological processnucleotide excision repair DNA recombination positive regulation of t circle formation cellular response to DNA damage stimulus DNA double strand break processing involved in repair via single strand annealing DNA replication response to intra S DNA damage checkpoint signaling positive regulation of catalytic activity DNA repair interstrand cross link repair resolution of meiotic recombination intermediates double strand break repair via homologous recombination meiotic DNA double strand break processing telomeric D loop disassembly t circle formation negative regulation of telomere maintenance via telomere lengtheningSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8446452864EnsemblENSG00000188827ENSMUSG00000039738UniProtQ8IY92Q6P1D7RefSeq mRNA NM 032444NM 177472RefSeq protein NP 115820NP 803423NP 001389852NP 001389853NP 001389854NP 001389855NP 001389856NP 001389857NP 001389859NP 001389860Location UCSC Chr 16 3 58 3 61 MbChr 16 3 98 4 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe version of SLX4 present in humans and other mammals acts as a sort of scaffold upon which other proteins form several different multiprotein complexes The SLX1 SLX4 complex acts as a Holliday junction resolvase As such the complex cleaves the links between two homologous chromosomes that form during homologous recombination This allows the two linked chromosomes to resolve into two unconnected double strand DNA molecules 8 The SLX4 interacting protein interacts with SLX4 in the DNA repair process specifically in interstrand crosslink repair 9 SLX4 also associates with RAD1 RAD10 and SAW1 in the single strand annealing pathway of homologous recombination 10 The DNA repair function of SLX4 is involved in sensitivity to proton beam radiation 11 References edit a b c GRCh38 Ensembl release 89 ENSG00000188827 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000039738 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Klein HL Symington LS July 2009 Breaking up just got easier to do Cell 138 1 20 22 doi 10 1016 j cell 2009 06 039 PMID 19596231 S2CID 15429205 Kim Y Lach FP Desetty R Hanenberg H Auerbach AD Smogorzewska A February 2011 Mutations of the SLX4 gene in Fanconi anemia Nature Genetics 43 2 142 146 doi 10 1038 ng 750 PMC 3345287 PMID 21240275 van der Weyden L White JK Adams DJ Logan DW June 2011 The mouse genetics toolkit revealing function and mechanism Genome Biology 12 6 224 doi 10 1186 gb 2011 12 6 224 PMC 3218837 PMID 21722353 Svendsen JM Smogorzewska A Sowa ME O Connell BC Gygi SP Elledge SJ Harper JW July 2009 Mammalian BTBD12 SLX4 assembles a Holliday junction resolvase and is required for DNA repair Cell 138 1 63 77 doi 10 1016 j cell 2009 06 030 PMC 2720686 PMID 19596235 Zhang H Chen Z Ye Y Ye Z Cao D Xiong Y et al November 2019 SLX4IP acts with SLX4 and XPF ERCC1 to promote interstrand crosslink repair Nucleic Acids Research 47 19 10181 10201 doi 10 1093 nar gkz769 PMC 6821277 PMID 31495888 Mimitou EP Symington LS September 2009 DNA end resection many nucleases make light work DNA Repair 8 9 983 995 doi 10 1016 j dnarep 2009 04 017 PMC 2760233 PMID 19473888 Liu Q Underwood TS Kung J Wang M Lu HM Paganetti H et al May 2016 Disruption of SLX4 MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation International Journal of Radiation Oncology Biology Physics 95 1 78 85 doi 10 1016 j ijrobp 2016 01 046 PMC 4889010 PMID 27084631 External links edit Retrieved from https en wikipedia org w index php title SLX4 amp oldid 1204594072, wikipedia, wiki, book, books, library,
