SLX4

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]

SLX4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4M7C, 4UYI, 4ZOU
Identifiers
Aliases	SLX4, BTBD12, FANCP, MUS312, SLX4 structure-specific endonuclease subunit
External IDs	OMIM: 613278; MGI: 106299; HomoloGene: 23770; GeneCards: SLX4; OMA:SLX4 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 3,581,181 bp[1] End 3,611,606 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A1|16 2.34 cM Start 3,979,105 bp[2] End 4,003,770 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum pancreatic ductal cell gonad granulocyte testicle right testis left testis stromal cell of endometrium ventricular zone tibialis anterior muscle Top expressed in zygote spermatocyte genital tubercle tail of embryo spermatid gastrula neural layer of retina secondary oocyte seminiferous tubule ventricular zone More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding enzyme activator activity endodeoxyribonuclease activity crossover junction endodeoxyribonuclease activity 5'-flap endonuclease activity 3'-flap endonuclease activity Cellular component ERCC4-ERCC1 complex nucleoplasm cell junction Holliday junction resolvase complex nucleus telomere cytosol Slx1-Slx4 complex Biological process nucleotide-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 lengthening Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84464 52864 Ensembl ENSG00000188827 ENSMUSG00000039738 UniProt Q8IY92 Q6P1D7 RefSeq (mRNA) NM_032444 NM_177472 RefSeq (protein) NP_115820 NP_803423 NP_001389852 NP_001389853 NP_001389854 NP_001389855 NP_001389856 NP_001389857 NP_001389859 NP_001389860 Location (UCSC) Chr 16: 3.58 – 3.61 Mb Chr 16: 3.98 – 4 Mb PubMed search [3] [4]
Wikidata
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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]