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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLX4 Gene

protein-coding   GIFtS: 46
GCID: GC16M003632

SLX4 structure-specific endonuclease subunit homolog (S....

(Previous name: BTB (POZ) domain containing 12 )
(Previous symbol: BTBD12)
 Explore 3 diseases affiliated with
SLX4 via our new
 Human Malady Compendium 
Biological research products
for SLX4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SLX4 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae)1 2     BTB (POZ) Domain Containing 121 2
BTBD121 2 3 5     BTB/POZ Domain-Containing Protein 122 3
KIAA17841 3 5     MUS3122 5
KIAA19871 3 5     Structure-Specific Endonuclease Subunit SLX42
FANCP1 2     

External Ids:    HGNC: 238451   Entrez Gene: 844642   Ensembl: ENSG000001888277   OMIM: 6132785   UniProtKB: Q8IY923   

Export aliases for SLX4 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLX4:
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)

UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLX4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLX4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SLX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLX4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M003632:  view genomic region     (about GC identifiers)

Start:
3,631,182 bp from pter      End:
3,661,599 bp from pter
Size:
30,418 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92 (See protein sequence)
Recommended Name: Structure-specific endonuclease subunit SLX4  
Size: 1834 amino acids; 200012 Da
Subunit: 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
Subcellular location: Nucleus. Note=Localizes to sites of DNA dammage
Secondary accessions: Q69YT8 Q8TF15 Q96JP1
Alternative splicing: 2 isoforms:  Q8IY92-1   Q8IY92-2   

Explore the universe of human proteins at neXtProt for SLX4: NX_Q8IY92

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IY92

  • SLX4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115820.2  
    ENSEMBL proteins: 
     ENSP00000294008  

    Human Recombinant Protein Products: 
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    Uscn Proteins for SLX4

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784colocalizes with nuclear chromosome, telomeric region IDA19596235
    GO:0000790colocalizes with nuclear chromatin IDA19596235
    GO:0033557Slx1-Slx4 complex IDA19595721
    GO:0048476colocalizes with Holliday junction resolvase complex IDA19596236
    GO:0070522colocalizes with ERCC4-ERCC1 complex IDA19596236


    SLX4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLX4


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLX4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q8IY92

    ProtoNet protein and cluster: Q8IY92

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
    Similarity: Belongs to the SLX4 family
    Similarity: Contains 1 BTB (POZ) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
    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

    miRNA
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    OriGene 3'-UTR Clone: SLX4
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLX4
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate SLX4 (see all 9):
    hsa-miR-3163 hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-513b hsa-miR-363
    SwitchGear 3'UTR luciferase reporter plasmidSLX4 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SLX4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLX4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLX4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLX4 (see all 2)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLX4

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19596236
    GO:0008047enzyme activator activity IDA19596235
    GO:0008821contributes to crossover junction endodeoxyribonuclease activity IDA19596236
    GO:0017108contributes to 5'-flap endonuclease activity IDA19596236
    GO:0048257contributes to 3'-flap endonuclease activity IDA19595721


    SLX4 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for SLX4:
     Actin fiber cells  Increased G1 DNA content  Increased cell number in S and 

    Animal Models:
         14 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slx4):
     cardiovascular system  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     nervous system  reproductive system  skeleton  vision/eye 

    SLX4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    168/169 Interacting proteins for SLX4 (Q8IY921, 3 ENSP000002940084) via UniProtKB, MINT, STRING, and/or I2D (see all 169) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUS81Q96NY91, 3, ENSP000003078534EBI-2560942,EBI-2370806 I2D: score=3 STRING: ENSP00000307853
    MSH2P432461, 3, ENSP000002331464EBI-2560942,EBI-355888 I2D: score=2 STRING: ENSP00000233146
    SLX4IPQ5VYV71, 3, ENSP000003355574EBI-2560942,EBI-2370881 I2D: score=2 STRING: ENSP00000335557
    TERF2Q155541, 3, ENSP000002549424EBI-2560942,EBI-706637 I2D: score=2 STRING: ENSP00000254942
    SLX1BQ9BQ831, 3, ENSP000003289404EBI-2560942,EBI-2370858 I2D: score=3 STRING: ENSP00000328940
    SLX1AQ9BQ831, 3, ENSP000002513034EBI-2560942,EBI-2370858 I2D: score=3 STRING: ENSP00000251303
    EME1Q96AY21, 3, ENSP000003398974EBI-2560942,EBI-2370825 I2D: score=2 STRING: ENSP00000339897
    ERCC1P079921, 3, ENSP000000138074EBI-2560942,EBI-750962 I2D: score=2 STRING: ENSP00000013807
    ERCC4Q928891, 3, ENSP000003105204EBI-2560942,EBI-2370770 I2D: score=3 STRING: ENSP00000310520
    PLK1P533501, 3, ENSP000003000934EBI-2560942,EBI-476768 I2D: score=2 STRING: ENSP00000300093
    TERF2IPQ9NYB01, 3, ENSP000003000864EBI-2560942,EBI-750109 I2D: score=2 STRING: ENSP00000300086
    DCAF10Q5QP823, ENSP000003669534I2D: score=2 STRING: ENSP00000366953
    GID8Q9NWU23, ENSP000002660694I2D: score=2 STRING: ENSP00000266069
    GLTSCR2Q9NZM53, ENSP000002468024I2D: score=2 STRING: ENSP00000246802
    LRRC1Q9BTT63, ENSP000003599254I2D: score=2 STRING: ENSP00000359925
    NUP188Q5SRE53, ENSP000003616584I2D: score=2 STRING: ENSP00000361658
    PGAM5Q96HS13, ENSP000003215034I2D: score=2 STRING: ENSP00000321503
    PSMB4P280703, ENSP000002905414I2D: score=2 STRING: ENSP00000290541
    AASDHPPTQ9NRN73, ENSP000002786184I2D: score=1 STRING: ENSP00000278618
    AHCYL2Q96HN23, ENSP000003159314I2D: score=1 STRING: ENSP00000315931
    ALKBH2Q6NS383, ENSP000003430214I2D: score=1 STRING: ENSP00000343021
    ATG7O953523, ENSP000003464374I2D: score=1 STRING: ENSP00000346437
    CALML5Q9NZT13, ENSP000003696894I2D: score=1 STRING: ENSP00000369689
    CHEK1O147573, ENSP000002789164I2D: score=1 STRING: ENSP00000278916
    COPG1Q9Y6783, ENSP000003250024I2D: score=1 STRING: ENSP00000325002
    CTTNQ142473, ENSP000003018434I2D: score=1 STRING: ENSP00000301843
    DDX39AO001483, ENSP000002427764I2D: score=1 STRING: ENSP00000242776
    DMWDQ090193, ENSP000002702234I2D: score=1 STRING: ENSP00000270223
    DNAJB6O751903, ENSP000002621774I2D: score=1 STRING: ENSP00000262177
    F7P087093, ENSP000003647314I2D: score=1 STRING: ENSP00000364731
    GFM1Q96RP93, ENSP000004190384I2D: score=1 STRING: ENSP00000419038
    GYS1P138073, ENSP000003179044I2D: score=1 STRING: ENSP00000317904
    HPP007383, ENSP000003481704I2D: score=1 STRING: ENSP00000348170
    IGLC1P0CG043, ENSP000003748554I2D: score=1 STRING: ENSP00000374855
    KEAP1Q141453, ENSP000001711114I2D: score=1 STRING: ENSP00000171111
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=1 STRING: ENSP00000364847
    MEPCEQ7L2J03, ENSP000003085464I2D: score=1 STRING: ENSP00000308546
    MKLN1Q9UL633, ENSP000003235274I2D: score=1 STRING: ENSP00000323527
    MRPL15Q9P0153, ENSP000002601024I2D: score=1 STRING: ENSP00000260102
    MRPL44Q9H9J23, ENSP000002583834I2D: score=1 STRING: ENSP00000258383
    MRPS16Q9Y3D33, ENSP000003620364I2D: score=1 STRING: ENSP00000362036
    MRPS21P829213, ENSP000003123954I2D: score=1 STRING: ENSP00000312395
    NMD3Q96D463, ENSP000003075254I2D: score=1 STRING: ENSP00000307525
    PARK7Q994973, ENSP000003402784I2D: score=1 STRING: ENSP00000340278
    PLS3P137973, ENSP000003481634I2D: score=1 STRING: ENSP00000348163
    POLR2GP624873, ENSP000003017884I2D: score=1 STRING: ENSP00000301788
    PPM1GO153553, ENSP000002647144I2D: score=1 STRING: ENSP00000264714
    PPP2R3AQ061903, ENSP000002649774I2D: score=1 STRING: ENSP00000264977
    PRPF31Q8WWY33, ENSP000003241224I2D: score=1 STRING: ENSP00000324122
    RANP628263, ENSP000003961274I2D: score=1 STRING: ENSP00000396127
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    S100A8P051093, ENSP000003577214I2D: score=1 STRING: ENSP00000357721
    SERPINA1P010093, ENSP000003480684I2D: score=1 STRING: ENSP00000348068
    SERPINB4P485943, ENSP000003434454I2D: score=1 STRING: ENSP00000343445
    SERPINB5P369523, ENSP000003722214I2D: score=1 STRING: ENSP00000372221
    SLC25A1P530073, ENSP000002158824I2D: score=1 STRING: ENSP00000215882
    SLC5A3P537943, ENSP000003705434I2D: score=1 STRING: ENSP00000370543
    SQSTM1Q135013, ENSP000003744554I2D: score=1 STRING: ENSP00000374455
    TBC1D4O603433, ENSP000003668634I2D: score=1 STRING: ENSP00000366863
    TIMM44O436153, ENSP000002705384I2D: score=1 STRING: ENSP00000270538
    TTLL12Q141663, ENSP000002161294I2D: score=1 STRING: ENSP00000216129
    UBA5Q9GZZ93, ENSP000003485654I2D: score=1 STRING: ENSP00000348565
    UBE2OQ9C0C93, ENSP000003236874I2D: score=1 STRING: ENSP00000323687
    UBR5O950713, ENSP000002209594I2D: score=1 STRING: ENSP00000220959
    USMG5Q96IX53, ENSP000003112454I2D: score=1 STRING: ENSP00000311245
    ZNF282Q9UDV73, ENSP000002620854I2D: score=1 STRING: ENSP00000262085
    ZYXQ159423, ENSP000003244224I2D: score=1 STRING: ENSP00000324422
    SUMO2P619563, ENSP000004059654I2D: score=1 STRING: ENSP00000405965
    AHCYL1O438653, ENSP000003588144I2D: score=1 STRING: ENSP00000358814
    AKAP11Q9UKA43, ENSP000000253014I2D: score=1 STRING: ENSP00000025301
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    ANKRD17O751793, ENSP000003514164I2D: score=1 STRING: ENSP00000351416
    AP3M1Q9Y2T23, ENSP000003474084I2D: score=1 STRING: ENSP00000347408
    ASPRV1Q53RT33, ENSP000003153834I2D: score=1 STRING: ENSP00000315383
    ATP5OP480473, ENSP000002902994I2D: score=1 STRING: ENSP00000290299
    BAG5Q9UL153, ENSP000003388144I2D: score=1 STRING: ENSP00000338814
    C11orf58O001933, ENSP000002281364I2D: score=1 STRING: ENSP00000228136
    CALML3P274823, ENSP000003152994I2D: score=1 STRING: ENSP00000315299
    CAND1Q86VP63, ENSP000002992184I2D: score=1 STRING: ENSP00000299218
    CNN3Q154173, ENSP000003592254I2D: score=1 STRING: ENSP00000359225
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    DDX24Q9GZR73, ENSP000003286904I2D: score=1 STRING: ENSP00000328690
    DEPDC7Q96QD53, ENSP000002410514I2D: score=1 STRING: ENSP00000241051
    DNAJC9Q8WXX53, ENSP000003620414I2D: score=1 STRING: ENSP00000362041
    DSC1Q085543, ENSP000002571984I2D: score=1 STRING: ENSP00000257198
    EPB41L3Q9Y2J23, ENSP000003411384I2D: score=1 STRING: ENSP00000341138
    FABP5Q014693, ENSP000002972584I2D: score=1 STRING: ENSP00000297258
    FAM192AQ9GZU83, ENSP000003358084I2D: score=1 STRING: ENSP00000335808
    FARSBQ9NSD93, ENSP000002818284I2D: score=1 STRING: ENSP00000281828
    FLGP209303, ENSP000003577894I2D: score=1 STRING: ENSP00000357789
    FLNAP213333, ENSP000003588664I2D: score=1 STRING: ENSP00000358866
    FTOQ9C0B13, ENSP000004188234I2D: score=1 STRING: ENSP00000418823
    GFM2Q969S93, ENSP000002968054I2D: score=1 STRING: ENSP00000296805
    GNPATO152283, ENSP000003556074I2D: score=1 STRING: ENSP00000355607
    GPATCH4Q5T3I03, ENSP000003964414I2D: score=1 STRING: ENSP00000396441
    GPHNQ9NQX33, ENSP000003030194I2D: score=1 STRING: ENSP00000303019
    GPN3Q9UHW53, ENSP000002288274I2D: score=1 STRING: ENSP00000228827
    HCFC1P516103, ENSP000003095554I2D: score=1 STRING: ENSP00000309555
    HOXB9P174823, ENSP000003094394I2D: score=1 STRING: ENSP00000309439
    HOXC9P312743, ENSP000003028364I2D: score=1 STRING: ENSP00000302836
    HSPB1P047923, ENSP000002485534I2D: score=1 STRING: ENSP00000248553
    ICT1Q141973, ENSP000003015854I2D: score=1 STRING: ENSP00000301585
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    IGKV1-5P016023, ENSP000004204364I2D: score=1 STRING: ENSP00000420436
    IPO7O953733, ENSP000003690424I2D: score=1 STRING: ENSP00000369042
    KPNA1P522943, ENSP000003437014I2D: score=2 STRING: ENSP00000343701
    KPNA3O005053, ENSP000002616674I2D: score=1 STRING: ENSP00000261667
    KPNA4O006293, ENSP000003343734I2D: score=1 STRING: ENSP00000334373
    KRT4P190133, ENSP000002937744I2D: score=1 STRING: ENSP00000293774
    LARP7Q4G0J33, ENSP000003143114I2D: score=1 STRING: ENSP00000314311
    MRPL41Q8IXM33, ENSP000003604984I2D: score=1 STRING: ENSP00000360498
    MRPL9Q9BYD23, ENSP000003578234I2D: score=1 STRING: ENSP00000357823
    MRPS11P829123, ENSP000003173764I2D: score=1 STRING: ENSP00000317376
    MRPS31Q926653, ENSP000003153974I2D: score=1 STRING: ENSP00000315397
    MSH3P205853, ENSP000002650814I2D: score=2 STRING: ENSP00000265081
    MYH11P357493, ENSP000003796164I2D: score=1 STRING: ENSP00000379616
    MYO1CO001593, ENSP000003528344I2D: score=1 STRING: ENSP00000352834
    NRD1O438473, ENSP000003468904I2D: score=1 STRING: ENSP00000346890
    NUP153P497903, ENSP000002620774I2D: score=1 STRING: ENSP00000262077
    NUP155O756943, ENSP000002314984I2D: score=1 STRING: ENSP00000231498
    NUP50Q9UKX73, ENSP000003458954I2D: score=2 STRING: ENSP00000345895
    NUP93Q8N1F73, ENSP000003106684I2D: score=1 STRING: ENSP00000310668
    PARP1P098743, ENSP000003557594I2D: score=1 STRING: ENSP00000355759
    PDCD2LQ9BRP13, ENSP000002465354I2D: score=1 STRING: ENSP00000246535
    PEX5P505423, ENSP000004074014I2D: score=1 STRING: ENSP00000407401
    PIN1Q135263, ENSP000002479704I2D: score=1 STRING: ENSP00000247970
    PPP2R2CQ9Y2T43, ENSP000003350834I2D: score=1 STRING: ENSP00000335083
    PRKCIP417433, ENSP000002957974I2D: score=1 STRING: ENSP00000295797
    RAD54L2Q9Y4B43, ENSP000003865204I2D: score=1 STRING: ENSP00000386520
    RANGAP1P460603, ENSP000003485774I2D: score=1 STRING: ENSP00000348577
    RNF138Q8WVD33, ENSP000002615934I2D: score=1 STRING: ENSP00000261593
    RNH1P134893, ENSP000003464024I2D: score=1 STRING: ENSP00000346402
    RRBP1Q9P2E93, ENSP000003540454I2D: score=1 STRING: ENSP00000354045
    SART1O432903, ENSP000003104484I2D: score=1 STRING: ENSP00000310448
    SCRIBQ141603, ENSP000003494864I2D: score=1 STRING: ENSP00000349486
    SDE2Q6IQ493, ENSP000002720914I2D: score=1 STRING: ENSP00000272091
    SEH1LQ96EE33, ENSP000003827794I2D: score=1 STRING: ENSP00000382779
    SLC25A13Q9UJS03, ENSP000002656314I2D: score=1 STRING: ENSP00000265631
    SRPXP785393, ENSP000003677944I2D: score=1 STRING: ENSP00000367794
    TCOF1Q134283, ENSP000004068884I2D: score=1 STRING: ENSP00000406888
    TEX10Q9NXF13, ENSP000003640374I2D: score=2 STRING: ENSP00000364037
    TFP027873, ENSP000002649984I2D: score=1 STRING: ENSP00000264998
    TGM3Q081883, ENSP000003708674I2D: score=1 STRING: ENSP00000370867
    TIPRLO756633, ENSP000003568074I2D: score=1 STRING: ENSP00000356807
    TK1P041833, ENSP000003016344I2D: score=1 STRING: ENSP00000301634
    TSPYL1Q9H0U93, ENSP000003575974I2D: score=2 STRING: ENSP00000357597
    PNMA2Q9UL423I2D: score=2 
    UBE2IP632793I2D: score=2 
    CDSNQ155173I2D: score=1 
    CSNK2BP678703I2D: score=1 
    CWC15Q9P0133I2D: score=1 
    IGHMP018713I2D: score=1 
    MICU1Q9BPX63I2D: score=1 
    NCAPD3P426953I2D: score=1 
    PPP2R2DQ66LE63I2D: score=1 
    VARSP266403I2D: score=1 
    VPRBPQ9Y4B63I2D: score=1 
    RAD1ENSP000003408794STRING: ENSP00000340879
    UBCENSP000003448184STRING: ENSP00000344818
    --ENSP000004182944STRING: ENSP00000418294
    --ENSP000004173834STRING: ENSP00000417383
    --ENSP000004033594STRING: ENSP00000403359
    --ENSP000003955464STRING: ENSP00000395546
    --ENSP000003817484STRING: ENSP00000381748
    --ENSP000003811004STRING: ENSP00000381100
    --ENSP000002811894STRING: ENSP00000281189
    --ENSP000002798394STRING: ENSP00000279839
    --ENSP000002736124STRING: ENSP00000273612
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP19595721
    GO:0006281DNA repair IMP19595722
    GO:0006289nucleotide-excision repair IMP19596236
    GO:0010792DNA double-strand break processing involved in repair via single-strand annealing IMP19595721
    GO:0043085positive regulation of catalytic activity IDA19596235


    SLX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLX4
    Search CenterWatch for drugs/clinical trials and news about SLX4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLX4 gene: 
    NM_032444.2  

    Unigene Cluster for SLX4:

    SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
    Hs.143681  [show with all ESTs]
    Unigene Representative Sequence: NM_032444
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294008(uc002cvp.2) ENST00000466154 ENST00000486524(uc002cvq.1)


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    hsa-miR-3163 hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-513b hsa-miR-363
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    Additional cDNA sequence: 

    AK095411.1 AK122775.1 AL442083.1 BC029952.1 BC036335.1 BC104222.2 BC104223.2 BC112989.1 
    BC112990.1 

    5 DOTS entries:

    DT.95366775  DT.434494  DT.100778016  DT.91913738  DT.75191051 

    24/67 AceView cDNA sequences (see all 67):

    BF435035 CD518367 AK122775 AI553979 BC036335 BM541728 AI380342 BC029952 
    BI826182 AK095411 BU521908 BM907150 AA279053 AB075867 AA406162 BF513005 
    AL704311 BX279969 AI143664 AL442083 BX333207 BG034020 AA811576 BX117199 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCACTAGCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SLX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLX4

    SOURCE GeneReport for Unigene cluster: Hs.143681
        SABiosciences Expression via Pathway-Focused PCR Array including SLX4: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SLX4 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slx41 , 5 SLX4 structure-specific endonuclease subunit homolog more1, 5 71.47(n)1
    61.91(a)1
      16 (2.34 cM)5
    528641  NM_177472.41  NP_803423.21 
     39791055 
    chicken
    (Gallus gallus)
    Aves SLX41 SLX4 structure-specific endonuclease subunit homolog more 58.42(n)
    49.67(a)
      416665  XM_414962.3  XP_414962.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLX46
    --
    52(a)
    1 ↔ 1
    GL343507.1(510934-511176)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.162842 Transcribed sequences 73.91(n)    BX703142.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005381531 structure-specific endonuclease subunit SLX4-like 46.57(n)
    36.86(a)
      100538153  XM_003201098.1  XP_003201146.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/833 NCBI SNPs in SLX4 are shown (see all 833    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs802431521,2
    F,--3600050(+) CAGGCT/CGGGAT 1 -- ds50013Minor allele frequency- C:0.08WA NA EA 358
    rs748883921,2
    C,F,--3600293(+) TGGGAA/GCTGAA 1 -- ds50011Minor allele frequency- G:0.09WA 118
    rs1179585921,2
    C,F,--3600566(+) CCTCAT/CCNNNN 1 -- ut311Minor allele frequency- C:0.03NA 120
    rs783464911,2
    C,F,--3600585(+) GCTCCT/CGAGGC 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs757730271,2
    C,F,--3600603(+) NNNNTT/CAACCC 1 -- ut312Minor allele frequency- C:0.06NA EA 240
    rs576993931,2
    C,--3600623(+) AATCCG/ACTAGT 1 -- ut312Minor allele frequency- A:0.08WA 120
    rs1156909371,2
    C,F,--3600800(+) GCTGGC/TGGTGG 1 -- ut311Minor allele frequency- T:0.10WA 118
    rs751468161,2
    F,--3600886(+) CAGACA/GTGTAG 1 -- ut312Minor allele frequency- G:0.06NA EA 240
    rs785410561,2
    F--3601238(+) GGGAGG/CCGGAG 1 -- ut311Minor allele frequency- C:0.33NA 6
    rs735054101,2
    C,--3601355(+) AGCACG/AGACAG 1 -- ut311Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for SLX4 (3631182 - 3661599 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLX4: --
    Human Gene Mutation Database (HGMD): SLX4

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLX4 for disorders           About GeneDecksing

    OMIM gene information: 613278    OMIM disorders: --

    UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
  • Defects in SLX4 are the cause of Fanconi anemia complementation group P (FANCP) [MIM:613951]. FANCP is 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

    3 diseases for SLX4:    About MalaCards
    fanconi's anemia    leukopenia    anemia


    Export disorders for SLX4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLX4 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with SLX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PubMed id 19595721)1, 2, 3 Munoz I.M.... Rouse J. (2009)
    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. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    3. SLX4, a coordinator of structure-specific endonucleas es, is mutated in a new Fanconi anemia subtype. (PubMed id 21240277)1, 2 Stoepker C....de Winter J.P. (2011)
    4. Mutations of the SLX4 gene in Fanconi anemia. (PubMed id 21240275)1, 2 Kim Y....Smogorzewska A. (2011)
    5. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. (PubMed id 19596236)1, 2 Fekairi S.... Gaillard P.-H.L. (2009)
    6. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1, 2 Svendsen J.M.... Harper J.W. (2009)
    7. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. (PubMed id 19595722)1, 2 Andersen S.L....Sekelsky J. (2009)
    8. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    9. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (2001)
    10. Analysis of the novel Fanconi anemia gene SLX4/FANCP in familial breast cancer cases. (PubMed id 22911665)2 Bakker J.L.... Waisfisz Q. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84464 HGNC: 23845 AceView: BTBD12andKIAA1987 Ensembl:ENSG00000188827 euGenes: HUgn84464
    ECgene: SLX4 H-InvDB: SLX4

    (According to HUGE)
    About This Section
    HUGE: KIAA1987 KIAA1784

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLX4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLX4 gene:
    Search GeneIP for patents involving SLX4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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