Format

Send to:

Choose Destination
    • Showing Current items.

    SLX4 SLX4 structure-specific endonuclease subunit [ Homo sapiens (human) ]

    Gene ID: 84464, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLX4provided by HGNC
    Official Full Name
    SLX4 structure-specific endonuclease subunitprovided by HGNC
    Primary source
    HGNC:HGNC:23845
    See related
    Ensembl:ENSG00000188827 MIM:613278
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FANCP; BTBD12; MUS312
    Summary
    This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLX4 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (3579653..3611639, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3631182..3661607, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene clusterin associated protein 1 Neighboring gene uncharacterized LOC101929732 Neighboring gene NLR family CARD domain containing 3 Neighboring gene uncharacterized LOC105371060 Neighboring gene deoxyribonuclease 1 Neighboring gene TNF receptor associated protein 1 Neighboring gene CREB binding protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-mediated cell cycle G2/M arrest requires human SLX4, MUS81, and EME1 proteins in cells PubMed
    vpr The targeting of active SLX4 by HIV-1 Vpr to HIV-1 DNA serves as a viral strategy to avoid innate immune sensing PubMed
    vpr VPRBP is required for HIV-1 Vpr-mediated activation of the SLX4 complex and modulation of MUS81 levels. The interaction between Vpr and VPRBP is involved in MUS81 ubiquitination PubMed
    vpr HIV-1 Vpr induces untimely activation of SLX4-associated MUS81-EME1 through phosphorylation of EME1 by PLK1 PubMed
    vpr HIV-1 Vpr directly interacts with the C-terminal SLX1 binding domain of SLX4 and recruits VPRBP to the SSE regulator complex SLX4 PubMed
    vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1784, KIAA1987

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3'-flap endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to 5'-flap endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to crossover junction endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA double-strand break processing involved in repair via single-strand annealing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in meiotic DNA double-strand break processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance via telomere lengthening IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of t-circle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within response to intra-S DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in t-circle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in telomeric D-loop disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Slx1-Slx4 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Slx1-Slx4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Slx1-Slx4 complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    structure-specific endonuclease subunit SLX4
    Names
    BTB/POZ domain-containing protein 12

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028123.1 RefSeqGene

      Range
      5001..35404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_503

    mRNA and Protein(s)

    1. NM_032444.4NP_115820.2  structure-specific endonuclease subunit SLX4

      See identical proteins and their annotated locations for NP_115820.2

      Status: REVIEWED

      Source sequence(s)
      AA279053, AC006111, AI380342, AK095411, AL442083, BC029952, BE887716, BM541728, DA242337, HY050233, HY246029
      Consensus CDS
      CCDS10506.2
      UniProtKB/Swiss-Prot
      Q8IY92
      Related
      ENSP00000294008.3, ENST00000294008.4
      Conserved Domains (2) summary
      pfam09494
      Location:17541810
      Slx4; Slx4 endonuclease
      cl02518
      Location:681788
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      3579653..3611639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522715.3XP_011521017.1  structure-specific endonuclease subunit SLX4 isoform X2

      Conserved Domains (3) summary
      smart00225
      Location:699788
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam09494
      Location:17531809
      Slx4; Slx4 endonuclease
      cl02518
      Location:681788
      BTB; BTB/POZ domain
    2. XM_024450471.1XP_024306239.1  structure-specific endonuclease subunit SLX4 isoform X1

      Conserved Domains (2) summary
      pfam09494
      Location:17541810
      Slx4; Slx4 endonuclease
      cl02518
      Location:681788
      BTB; BTB/POZ domain
    3. XM_017023775.2XP_016879264.1  structure-specific endonuclease subunit SLX4 isoform X3

    Support Center