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Aliases for SLX4 Gene

Aliases for SLX4 Gene

  • SLX4 Structure-Specific Endonuclease Subunit 2 3
  • BTBD12 3 4 6
  • BTB/POZ Domain-Containing Protein 12 3 4
  • BTB (POZ) Domain Containing 12 2 3
  • KIAA1784 4 6
  • KIAA1987 4 6
  • MUS312 3 6
  • FANCP 3 6
  • SLX4 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae) 2
  • SLX4 Structure-Specific Endonuclease Subunit Homolog 3
  • Structure-Specific Endonuclease Subunit SLX4 3
  • Complementation Group P 2
  • Fanconi Anemia 2

External Ids for SLX4 Gene

Previous HGNC Symbols for SLX4 Gene

  • BTBD12

Previous GeneCards Identifiers for SLX4 Gene

  • GC16M003632

Summaries for SLX4 Gene

Entrez Gene Summary for SLX4 Gene

  • 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]

GeneCards Summary for SLX4 Gene

SLX4 (SLX4 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with SLX4 include fanconi anemia, complementation group p and slx4-related fanconi anemia. Among its related pathways are Fanconi anemia pathway (KEGG). GO annotations related to this gene include enzyme activator activity and crossover junction endodeoxyribonuclease activity.

UniProtKB/Swiss-Prot for SLX4 Gene

  • Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLX4 Gene

Genomics for SLX4 Gene

Genomic Location for SLX4 Gene

Start:
3,581,181 bp from pter
End:
3,611,598 bp from pter
Size:
30,418 bases
Orientation:
Minus strand

Genomic View for SLX4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLX4 Gene

No data available for Regulatory Elements for SLX4 Gene

Proteins for SLX4 Gene

  • Protein details for SLX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY92-SLX4_HUMAN
    Recommended name:
    Structure-specific endonuclease subunit SLX4
    Protein Accession:
    Q8IY92
    Secondary Accessions:
    • Q69YT8
    • Q8TF15
    • Q96JP1

    Protein attributes for SLX4 Gene

    Size:
    1834 amino acids
    Molecular mass:
    200012 Da
    Quaternary structure:
    • Forms a heterodimer with SLX1A/GIYD1. Interacts with ERCC4; catalytic subunit of the ERCC4-ERCC1 endonuclease. Interacts with MUS81; catalytic subunit of the MUS81-EME1 endonuclease. Interacts with MSH2; component of the MSH2-MSH3 mismatch repair complex. Interacts with TERF2-TERF2IP. Interacts with PLK1 and SLX4IP.

    Three dimensional structures from OCA and Proteopedia for SLX4 Gene

    Alternative splice isoforms for SLX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLX4 Gene

Proteomics data for SLX4 Gene at MOPED

Post-translational modifications for SLX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLX4 Gene

Domains for SLX4 Gene

Gene Families for SLX4 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • FANC :Fanconi anemia, complementation groups

Protein Domains for SLX4 Gene

Suggested Antigen Peptide Sequences for SLX4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY92

UniProtKB/Swiss-Prot:

SLX4_HUMAN :
  • Q8IY92
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the SLX4 family.
genes like me logo Genes that share domains with SLX4: view

Function for SLX4 Gene

Molecular function for SLX4 Gene

UniProtKB/Swiss-Prot Function: Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.

Gene Ontology (GO) - Molecular Function for SLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19595721
GO:0008047 enzyme activator activity IDA 19596235
GO:0008821 contributes_to crossover junction endodeoxyribonuclease activity IDA 19595721
GO:0017108 contributes_to 5-flap endonuclease activity IDA 19595721
GO:0048257 contributes_to 3-flap endonuclease activity IDA 19595721
genes like me logo Genes that share ontologies with SLX4: view
genes like me logo Genes that share phenotypes with SLX4: view

Animal Models for SLX4 Gene

MGI Knock Outs for SLX4:

miRNA for SLX4 Gene

miRTarBase miRNAs that target SLX4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLX4 Gene

Localization for SLX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLX4 Gene

Nucleus. Note=Localizes to sites of DNA dammage.

Gene Ontology (GO) - Cellular Components for SLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 19596235
GO:0000790 colocalizes_with nuclear chromatin IDA 19596235
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SLX4: view

No data available for Subcellular locations from COMPARTMENTS for SLX4 Gene

Pathways for SLX4 Gene

SuperPathways for SLX4 Gene

Superpath Contained pathways
1 Fanconi anemia pathway (KEGG)
genes like me logo Genes that share pathways with SLX4: view

Pathways by source for SLX4 Gene

1 KEGG pathway for SLX4 Gene

Gene Ontology (GO) - Biological Process for SLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 19595721
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair IMP 19595722
GO:0006289 nucleotide-excision repair IMP 19596236
genes like me logo Genes that share ontologies with SLX4: view

Transcripts for SLX4 Gene

Unigene Clusters for SLX4 Gene

SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLX4 Gene

No ASD Table

Relevant External Links for SLX4 Gene

GeneLoc Exon Structure for
SLX4
ECgene alternative splicing isoforms for
SLX4

Expression for SLX4 Gene

mRNA expression in normal human tissues for SLX4 Gene

mRNA differential expression in normal tissues according to GTEx for SLX4 Gene

This gene is overexpressed in Brain - Cerebellum (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLX4 Gene

SOURCE GeneReport for Unigene cluster for SLX4 Gene Hs.143681

genes like me logo Genes that share expressions with SLX4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SLX4 Gene

Orthologs for SLX4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLX4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLX4 35
  • 99.04 (n)
  • 98.09 (a)
SLX4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLX4 35
  • 73.2 (n)
  • 63.49 (a)
SLX4 36
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLX4 35
  • 74.36 (n)
  • 65.34 (a)
SLX4 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slx4 35
  • 70.59 (n)
  • 60.89 (a)
Slx4 16
Slx4 36
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLX4 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLX4 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slx4 35
  • 71.11 (n)
  • 60.91 (a)
chicken
(Gallus gallus)
Aves SLX4 35
  • 52.58 (n)
  • 42.13 (a)
SLX4 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLX4 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16284 35
zebrafish
(Danio rerio)
Actinopterygii slx4 36
  • 26 (a)
OneToMany
SLX4 (2 of 2) 36
  • 42 (a)
OneToMany
Species with no ortholog for SLX4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLX4 Gene

ENSEMBL:
Gene Tree for SLX4 (if available)
TreeFam:
Gene Tree for SLX4 (if available)

Paralogs for SLX4 Gene

No data available for Paralogs for SLX4 Gene

Variants for SLX4 Gene

Sequence variations from dbSNP and Humsavar for SLX4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs714181 - 3,590,273(-) ATCTC(C/T)GTCTA reference, missense
rs758748 -- 3,583,656(+) GCATC(A/G)GAGGT intron-variant
rs1056084 -- 3,596,232(-) GACCT(A/C)GTGGA synonymous-codon, reference
rs1056085 -- 3,596,179(-) TGGGG(A/G)CCTGG missense, reference
rs1061002 -- 3,592,798(+) TGCTC(A/G)CGTCA missense, reference

Structural Variations from Database of Genomic Variants (DGV) for SLX4 Gene

Variant ID Type Subtype PubMed ID
nsv905213 CNV Loss 21882294
nsv833128 CNV Loss 17160897
nsv905216 CNV Loss 21882294
nsv517451 CNV Loss 19592680
nsv518509 CNV Gain 19592680

Relevant External Links for SLX4 Gene

HapMap Linkage Disequilibrium report
SLX4
Human Gene Mutation Database (HGMD)
SLX4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLX4 Gene

Disorders for SLX4 Gene

(1) OMIM Diseases for SLX4 Gene (613278)

UniProtKB/Swiss-Prot

SLX4_HUMAN
  • Fanconi anemia complementation group P (FANCP) [MIM:613951]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies. {ECO:0000269 PubMed:21240275, ECO:0000269 PubMed:21240277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SLX4: view

Publications for SLX4 Gene

  1. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PMID: 19595721) Munoz I.M. … Rouse J. (Mol. Cell 2009) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T. … Ohara O. (DNA Res. 2001) 3 4
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 3 4
  5. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. (PMID: 19595722) Andersen S.L. … Sekelsky J. (Mol. Cell 2009) 3 4

Products for SLX4 Gene

Sources for SLX4 Gene

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