Sequence in raw or FASTA format:
SLX4 SLX4 structure-specific endonuclease subunit [
Homo sapiens (human)]
Gene Symbol SLX4
Entrez Gene ID
Full Name SLX4 structure-specific endonuclease subunit
Synonyms BTBD12, FANCP, MUS312
General protein information
structure-specific endonuclease subunit SLX4
structure-specific endonuclease subunit SLX4
BTB (POZ) domain containing 12
BTB/POZ domain-containing protein 12
SLX4 structure-specific endonuclease subunit homolog
Gene Type protein-coding
Homo sapiens (human)
Chromosome:16 Map Location:16p13.3
Summary This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.[provided by RefSeq, Jan 2011].
ID Name Evidence
GO:0000724 double-strand break repair via homologous recombination IMP
GO:0000737 DNA catabolic process, endonucleolytic IDA
GO:0000737 DNA catabolic process, endonucleolytic IEA
GO:0006260 DNA replication IEA
GO:0006281 DNA repair IMP
GO:0006289 nucleotide-excision repair IMP
GO:0010792 DNA double-strand break processing involved in repair via single-strand annealing IMP
GO:0043085 positive regulation of catalytic activity IDA
GO:0072429 response to intra-S DNA damage checkpoint signaling IMP
Related articles in PubMed Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Kim Y, et al. Blood, 2013 Jan 3. PMID 23093618. Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Bakker JL, et al. Hum Mutat, 2013 Jan. PMID 22911665. The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. Salewsky B, et al. Hum Mol Genet, 2012 Nov 15. PMID 22907656. Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis. Ghosal G, et al. J Biol Chem, 2012 Oct 5. PMID 22902628. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. Fernández-Rodríguez J, et al. BMC Cancer, 2012 Mar 8. PMID 22401137. See all (28) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
Data indicate that germline mutations in SLX4 are very rare and are unlikely to make a significant contribution to familial breast cancer.
Title: Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
Title: The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
SLX4-dependent XPF-ERCC1 activity is needed for interstrand cross-linking repair. MUS81-SLX4 interaction is critical for resistance to TOP1 inhibitors.SLX4 interacts with XPF-ERCC1, MUS81-EME1, & SLX1 via MLR, SAP, & SBD domains, respectively.
Title: Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases
Title: Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
Mutational analysis of SLX4 in Breast Cancer cases without mutations in BRCA1 or BRCA2 revealed extensive genetic variation. Twenty-nine novel single nucleotide variants were detected, however, none can be linked to alteration of the protein function.
Title: Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
there is no evidence for a major role of SLX4 coding variants in the inherited susceptibility towards breast cancer in German and Byelorussian patients.
Title: Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer.
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Title: SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
biallelic mutations in SLX4 (renamed here as FANCP) cause a new subtype of Fanconi anemia, Fanconi anemia-P
Title: Mutations of the SLX4 gene in Fanconi anemia.
show that SLX4 binds the XPF(ERCC4) and MUS81 subunits of the XPF-ERCC1 and MUS81-EME1 endonucleases and is required for DNA interstrand crosslink repair.
Title: Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.
Genetic and biochemical evidence suggest that MUS312 and BTBD12 direct Holliday junction resolution by at least two distinct endonucleases in different recombination and repair contexts.
Title: Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination.
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