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SLX4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSLX4, BTBD12, FANCP, MUS312, SLX4 structure-specific endonuclease subunit
External IDsOMIM: 613278; MGI: 106299; HomoloGene: 23770; GeneCards: SLX4; OMA:SLX4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

84464

52864

Ensembl

ENSG00000188827

ENSMUSG00000039738

UniProt

Q8IY92

Q6P1D7

RefSeq (mRNA)

NM_032444

NM_177472

RefSeq (protein)

NP_115820

Location (UCSC)Chr 16: 3.58 – 3.61 MbChr 16: 3.98 – 4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188827 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039738 – 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. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
source: https://en.wikipedia.org/wiki/Slx4