Format

Send to:

Choose Destination

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

Gene ID: 84464, updated on 5-Apr-2020

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

Genomic context

See SLX4 in Genome Data Viewer
Location:
16p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (3579653..3611639, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3631182..3661585, 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to 3'-flap endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to 5'-flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to 5'-flap endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to crossover junction endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to crossover junction endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme activator activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing involved in repair via single-strand annealing IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
meiotic DNA double-strand break processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to intra-S DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
t-circle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
telomeric D-loop disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with ERCC4-ERCC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with Holliday junction resolvase complex IDA
Inferred from Direct Assay
more info
PubMed 
Slx1-Slx4 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Slx1-Slx4 complex IDA
Inferred from Direct Assay
more info
PubMed 
Slx1-Slx4 complex TAS
Traceable Author Statement
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
colocalizes_with nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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.

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