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

XRCC6 Gene

protein-coding   GIFtS: 69
GCID: GC22P042017

X-Ray Repair Complementing Defective Repair In Chinese Hamster...

(Previous names: thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen...)
(Previous symbol: G22P1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells
61 2 3
     Ku703 5
G22P11 2 3 5     70kDa1
TLAA2 3 5     Ku Autoantigen1
Thyroid Autoantigen 70kD (Ku Antigen)1 2     KU702
Thyroid Autoantigen 70kDa (Ku Antigen)1 2     ML82
Lupus Ku Autoantigen Protein P702 3     ATP-Dependent DNA Helicase II, 70 KDa Subunit2
5'-Deoxyribose-5-Phosphate Lyase Ku702 3     CTC Box Binding Factor 75 KDa Subunit2
5'-DRP Lyase Ku702 3     Ku Autoantigen P70 Subunit2
70 KDa Subunit Of Ku Antigen2 3     Ku Autoantigen, 70kDa2
CTC752 3     Thyroid-Lupus Autoantigen P702
CTCBF2 3     X-Ray Repair Cross-Complementing Protein 62
ATP-Dependent DNA Helicase 2 Subunit 12 3     EC 3.6.4.-3
ATP-Dependent DNA Helicase II 70 KDa Subunit2 3     EC 4.2.99.-3
CTC Box-Binding Factor 75 KDa Subunit2 3     Thyroid-Lupus Autoantigen3
DNA Repair Protein XRCC62 3     

External Ids:    HGNC: 40551   Entrez Gene: 25472   Ensembl: ENSG000001964197   OMIM: 1526905   UniProtKB: P129563   

Export aliases for XRCC6 gene to outside databases

Previous GC identifers: GC22P040342 GC22P024982


(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 XRCC6 Gene:
The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70
and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be
involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair,
transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some
patients with systemic lupus erythematosus. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC6 Gene: 
XRCC6 (X-ray repair complementing defective repair in Chinese hamster cells 6) is a protein-coding gene. Diseases associated with XRCC6 include bloom syndrome, and systemic lupus erythematosus, and among its related super-pathways are Non-homologous end joining and Integration of provirus. GO annotations related to this gene include double-stranded DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: XRCC6_HUMAN, P12956
Function: Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA
helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent
manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous
end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as
regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic
subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and
bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step.
Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP
lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand
breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage
commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with
APEX1 acts as a negative regulator of transcription

Gene Wiki entry for XRCC6 (Ku70) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XRCC6 gene promoter:
         POU2F1   Sp1   POU2F1a   p300   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): XRCC6 promoter sequence
   Search SABiosciences Chromatin IP Primers for XRCC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XRCC6


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

XRCC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P042017:  view genomic region     (about GC identifiers)

Start:
42,017,123 bp from pter      End:
42,060,052 bp from pter
Size:
42,930 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XRCC6_HUMAN, P12956 (See protein sequence)
Recommended Name: X-ray repair cross-complementing protein 6  
Size: 609 amino acids; 69843 Da
Subunit: Heterodimer of a 70 kDa (XRCC6) and a 80 kDa (XRCC5) subunit. The dimer associates in a DNA-dependent
manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4 complex. The
dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin
expression. In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5.
Interacts with ELF3. Interacts with XRCC6BP1. The XRCC5/6 dimer associates in a DNA-dependent manner with APEX1.
Interacts with CLU (By similarity). Binds to CDK9 isoform 2
Subcellular location: Nucleus. Chromosome
Developmental stage: Expression does not increase during promyelocyte differentiation
Miscellaneous: Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large
amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the
C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in
most sera from patients with SLE seem to be reactive with this region
4 PDB 3D structures from and Proteopedia for XRCC6:
1JEQ (3D)        1JEY (3D)        1JJR (3D)        3RZX (3D)    
Secondary accessions: Q6FG89 Q9UCQ2 Q9UCQ3

Explore the universe of human proteins at neXtProt for XRCC6: NX_P12956

Explore proteomics data for XRCC6 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12956

  • XRCC6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    XRCC6 Protein Expression
    REFSEQ proteins: NP_001460.1  
    ENSEMBL proteins: 
     ENSP00000353192   ENSP00000384941   ENSP00000352257   ENSP00000384257   ENSP00000384082  
     ENSP00000403679  
    Reactome Protein details: P12956
    Human Recombinant Protein Products for XRCC6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for XRCC6
    OriGene Protein Over-expression Lysate for XRCC6
    OriGene MassSpec for XRCC6 
    OriGene Custom Protein Services for XRCC6
    GenScript Custom Purified and Recombinant Proteins Services for XRCC6
    Novus Biologicals XRCC6 Proteins
    Novus Biologicals XRCC6 Lysates
    Sino Biological Recombinant Protein for XRCC6
    Sino Biological Cell Lysate for XRCC6 
    ProSpec Recombinant Protein for XRCC6
    Cloud-Clone Corp. Proteins for XRCC6 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000783nuclear telomere cap complex TAS15100233
    GO:0005634nucleus TAS10508516
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA12145306
    GO:0005737cytoplasm ----

    XRCC6 for ontologies           About GeneDecksing



    XRCC6 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of XRCC6
    R&D Systems Antibodies for XRCC6 (Ku70/XRCC6)
    Cell Signaling Technology (CST) Antibodies for XRCC6  (Ku70)
    OriGene Antibodies for XRCC6
    OriGene Custom Antibody Services for XRCC6
    GenScript Custom Superior Antibodies Services for XRCC6
    Novus Biologicals XRCC6 Antibodies
    Abcam antibodies for XRCC6
    Cloud-Clone Corp. Antibodies for XRCC6 
    ThermoFisher Antibody for XRCC6
    LSBio Antibodies in human, mouse, rat for XRCC6 

    Assay Products for XRCC6: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for XRCC6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for XRCC6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XRCC6 
    Cloud-Clone Corp. CLIAs for XRCC6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR016194 SPOC_like_C_dom
     IPR005160 Ku_C
     IPR005161 Ku_N
     IPR003034 SAP_dom
     IPR006164 Ku70/Ku80_beta-barrel_dom

    Graphical View of Domain Structure for InterPro Entry P12956

    ProtoNet protein and cluster: P12956

    2 Blocks protein domains:
    IPB003034 DNA-binding SAP
    IPB005160 Ku70/Ku80 C-terminal arm


    UniProtKB/Swiss-Prot: XRCC6_HUMAN, P12956
    Similarity: Belongs to the ku70 family
    Similarity: Contains 1 Ku domain
    Similarity: Contains 1 SAP domain


    XRCC6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XRCC6_HUMAN, P12956
    Function: Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA
    helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent
    manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous
    end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as
    regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic
    subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and
    bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step.
    Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP
    lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand
    breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage
    commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with
    APEX1 acts as a negative regulator of transcription
    Induction: In osteoblasts, by FGF2

         Enzyme Numbers (IUBMB): EC 4.2.99.-1 EC 3.6.4.-1

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding NAS1537839
    GO:0003684damaged DNA binding IEA--
    GO:0003690double-stranded DNA binding TAS7957065
    GO:0003691contributes to double-stranded telomeric DNA binding IDA10409678
         
    XRCC6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for XRCC6:
     Synthetic lethal with paclitax 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Xrcc6):
     behavior/neurological  cellular  growth/size  hematopoietic system  immune system 
     nervous system  reproductive system  tumorigenesis 

    XRCC6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for XRCC6: Xrcc6tm1Fwa Xrcc6tm1Gcl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for XRCC6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for XRCC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XRCC6 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XRCC6
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate XRCC6:
    hsa-miR-196a* hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidXRCC6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for XRCC6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XRCC6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XRCC6
    Sirion Biotech Customized adenovirus for overexpression of XRCC6

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for XRCC6 (see all 7)
    OriGene ORF clones in mouse, rat for XRCC6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: XRCC6 (NM_001469)
    Sino Biological Human cDNA Clone for XRCC6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XRCC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XRCC6
    Sirion Biotech Customized lentivirus for stable overexpression of XRCC6 
                         Customized lentivirus expression plasmids for stable overexpression of XRCC6 

    Cell Line
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    Search LifeMap BioReagents cell lines for XRCC6
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for XRCC6 About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.46
    DNA damage NHEJ mechanisms of DSBs repair0.37
    Non-homologous end joining0.46
    2Integration of provirus
    Integration of provirus0.88
    Early Phase of HIV Life Cycle0.73
    2-LTR circle formation0.88
    3HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    4Processing of DNA ends prior to end rejoining
    Nonhomologous End-joining (NHEJ)0.67
    Processing of DNA ends prior to end rejoining0.67
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for XRCC6
        DNA damage NHEJ mechanisms of DSBs repair


    2 Cell Signaling Technology (CST) Pathways for XRCC6
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for XRCC6
        DNA damage NHEJ mechanisms of DSBs repair

    5 BioSystems Pathways for XRCC6
        Non-homologous end joining
    Coregulation of Androgen receptor activity
    BARD1 signaling events
    Signaling events mediated by HDAC Class III
    Regulation of Telomerase


    5/13        Reactome Pathways for XRCC6 (see all 13)
        Cytosolic sensors of pathogen-associated DNA
    DNA Repair
    Nonhomologous End-joining (NHEJ)
    Early Phase of HIV Life Cycle
    Disease


    1         Kegg Pathway  (Kegg details for XRCC6):
        Non-homologous end-joining


    XRCC6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XRCC6

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

    5/949 Interacting proteins for XRCC6 (P129561, 2, 3 ENSP000003522574) via UniProtKB, MINT, STRING, and/or I2D (see all 949)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC5P130101, 2, 3EBI-353208,EBI-357997 MINT-8089673 MINT-8412713 MINT-8052786 MINT-8412784 MINT-8089739 MINT-4790124 MINT-8089790 MINT-8412808 MINT-25010 MINT-4051838 MINT-4051792 I2D: score=6 
    HIST1H3EP684313, ENSP000003535814I2D: score=2 STRING: ENSP00000353581
    HIST1H3AP684313, ENSP000003502754I2D: score=2 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=2 
    HIST1H3CP684313I2D: score=2 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS15824061
    GO:0006266DNA ligation TAS9826654
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--
    GO:0006303double-strand break repair via nonhomologous end joining TAS15824061

    XRCC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XRCC6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XRCC6

    10/14 Novoseek inferred chemical compound relationships for XRCC6 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-350 77.7 1 7724535 (1)
    suberoylanilide hydroxamic acid 67.4 1 17545612 (1)
    bleomycin 47.5 3 17283121 (1), 17545612 (1), 12509248 (1)
    methylmethanesulfonate 39.6 1 12509248 (1)
    threonine 31.3 1 14556663 (1)
    camptothecin 28.3 2 17596214 (1), 15218034 (1)
    serine 22.7 2 14556663 (1), 10026262 (1)
    cisplatin 18.5 3 12509248 (1), 17596214 (1), 18546291 (1)
    curcumin 15.4 3 15205359 (3)
    etoposide 5.59 4 15827325 (2), 17545612 (1), 17596214 (1)

    Search CenterWatch for drugs/clinical trials and news about XRCC6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XRCC6 gene: 
    NM_001469.3  

    Unigene Cluster for XRCC6:

    X-ray repair complementing defective repair in Chinese hamster cells 6
    Hs.292493  [show with all ESTs]
    Unigene Representative Sequence: BC008343
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360079(uc003bao.1 uc003bap.1 uc011apc.1) ENST00000464116
    ENST00000402580 ENST00000359308(uc003bar.2) ENST00000405878 ENST00000405506
    ENST00000478914 ENST00000428575
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate XRCC6:
    hsa-miR-196a* hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidXRCC6 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: XRCC6 (NM_001469)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XRCC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XRCC6
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XRCC6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XRCC6

    Additional mRNA sequence: 

    AF052148.1 AK055786.1 AK293439.1 AK304580.1 AK315618.1 BC001583.1 BC008343.1 BC010034.2 
    BC012154.2 BC018259.2 BC072449.1 CR456492.1 CR542219.1 J04607.1 J04611.1 M32865.1 
    S38729.1 

    24/103 DOTS entries (see all 103):

    DT.97801829  DT.100891260  DT.91936042  DT.92002298  DT.40237757  DT.100891297  DT.100891332  DT.100891263 
    DT.100836467  DT.100753842  DT.91648729  DT.100891284  DT.97868396  DT.120633317  DT.95236564  DT.91893522 
    DT.100891236  DT.92353827  DT.120633509  DT.120633355  DT.100891303  DT.100891296  DT.100891329  DT.100891321 

    24/2465 AceView cDNA sequences (see all 2465):

    BG575339 BM785416 CR612325 BQ945189 AA689313 BQ436914 BX428321 BM759582 
    BX425672 BU189678 AA429347 BU189528 BM904957 CR590963 BG284087 BX505279 
    BQ058619 BG113637 BQ899000 BM771767 AU139314 BU172409 AU125546 AU142830 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC6 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:                                                                                      -                                         -         
    SP2:              -     -                                                                                                                     
    SP3:                    -                                                                                                                     
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for XRCC6

    (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

    XRCC6 expression in normal human tissues (normalized intensities)      XRCC6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGGTGT
    XRCC6 Expression
    About this image


    XRCC6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See XRCC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XRCC6

    SOURCE GeneReport for Unigene cluster: Hs.292493
        SABiosciences Expression via Pathway-Focused PCR Arrays including XRCC6: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Primer
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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 eukaryotes.

    Orthologs for XRCC6 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc61 , 5 X-ray repair complementing defective repair in Chinese more1, 5 82.56(n)1
    83.66(a)1
      15 (38.33 cM)5
    143751  NM_010247.21  NP_034377.21 
     819878355 
    chicken
    (Gallus gallus)
    Aves XRCC61 X-ray repair complementing defective repair in Chinese more 71.61(n)
    70.18(a)
      395767  NM_204927.1  NP_990258.1 
    lizard
    (Anolis carolinensis)
    Reptilia XRCC66
    Uncharacterized protein
    71(a)
    1 ↔ 1
    5(26622100-26637522)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983572 human Ku70 autoantigen homologue 72.79(n)    AB020608.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi87b062 wufi87b06 75.33(n)   334488  BC053270.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Irbp1 Inverted repeat-binding protein 39.9(n)
    26.34(a)
      117419  NM_080512.4  NP_536773.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cku-701 Protein CKU-70 40.35(n)
    25.22(a)
      176546  NM_067037.3  NP_499438.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YKU70(YMR284W)4
    YKU701
    Subunit of the telomeric Ku complex (Yku70p-Yku80p), more4
    Yku70p1
    38.2(n)1
    23.82(a)1
      13(838187-839995)4
    8553281, 4  NP_014011.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KU701 ATP-dependent DNA helicase 2 subunit KU70 43.35(n)
    33.33(a)
      838268  NM_101558.3  NP_564012.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g01849001 hypothetical protein 44.06(n)
    32.87(a)
      4342584  NM_001065596.1  NP_001059061.1 


    ENSEMBL Gene Tree for XRCC6 (if available)
    TreeFam Gene Tree for XRCC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for XRCC6 gene
    1 SIMAP similar gene for XRCC6 using alignment to 4 protein entries:     XRCC6_HUMAN (see all proteins):
    G22P1

    XRCC6 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for XRCC6
    PGOHUM00000238588 PGOHUM00000244427 PGOHUM00000260407 PGOHUM00000241459 PGOHUM00000241596


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/927 SNPs in XRCC6 are shown (see all 927)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57583971,2
    C,F,A,H--42019251(+) aatttT/Cttaat 1 -- int123Minor allele frequency- C:0.14NS EA NA WA CSA 2420
    rs787313631,2
    C,F--42019378(+) ATGCCC/TAGACT 1 -- int12Minor allele frequency- T:0.05NA 122
    rs1165514281,2
    C,F--42019381(+) CCCAGA/GCTGTA 1 -- int11Minor allele frequency- G:0.06WA 118
    rs1448855121,2
    C--42019454(+) TGGCGC/TGATCT 1 -- int10--------
    rs571493941,2
    C--42019484(+) CCTCCC/TGGGTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1443034491,2
    --42019486(+) TCCCGA/GGTTCA 1 -- int10--------
    rs1478085741,2
    C--42019495(+) CATGCC/GATTCT 1 -- int10--------
    rs1914338771,2
    --42019523(+) AGTAGC/TTGGGA 1 -- int10--------
    rs1412416051,2
    --42019581(+) AGAGAC/TGGGGT 1 -- int10--------
    rs1846920131,2
    --42019633(+) TGATCC/TGCCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for XRCC6 (42017123 - 42060052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for XRCC6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834209CNV Loss17160897
    nsv524585CNV Loss19592680


    Human Gene Mutation Database (HGMD): XRCC6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing XRCC6
    DNA2.0 Custom Variant and Variant Library Synthesis for XRCC6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 152690    OMIM disorders: --

    20/53 diseases for XRCC6 (see all 53):    About MalaCards
    bloom syndrome    systemic lupus erythematosus    lupus erythematosus    thyroiditis
    pterygium    werner syndrome    ataxia telangiectasia    malignant pleural mesothelioma
    connective tissue disease    cervical cancer    sporadic breast cancer    breast cancer susceptibility
    skin cancer    was-related disorders    cervicitis    ataxia
    duodenitis    lung cancer    oral cancer    myelodysplastic syndromes

    2 diseases from the University of Copenhagen DISEASES database for XRCC6:
    Cancer     Werner syndrome

    XRCC6 for disorders           About GeneDecksing

    10/18 Novoseek inferred disease relationships for XRCC6 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 51.1 1 15184650 (1)
    ataxia telangiectasia 49.9 3 12210072 (3)
    nsclc 22.2 2 15273727 (1), 19826407 (1)
    cancer 19.9 6 17982634 (4), 12698192 (1), 15205359 (1)
    tumors 16.9 38 12810658 (5), 18546291 (5), 16029807 (4), 15254745 (3) (see all 12)
    myeloid leukemia 14.2 3 12019155 (1), 12702565 (1)
    colon cancer 5.48 3 15205359 (2), 11731412 (1)
    carcinoma 5.48 4 16827151 (3), 11104569 (1)
    colon carcinoma 2.18 1 15827325 (1)
    colorectal cancer 2.02 4 15254745 (2), 16533773 (1), 17071631 (1)

    Genetic Association Database (GAD): XRCC6
    Human Genome Epidemiology (HuGE) Navigator: XRCC6 (30 documents)

    Export disorders for XRCC6 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 XRCC6 gene, integrated from 9 sources (see all 462):
    (articles sorted by number of sources associating them with XRCC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Double-strand break repair by Ku70 requires heterodimerization with Ku80 and DNA binding functions. (PubMed id 9362500)1, 2, 9 Jin S. and Weaver D.T. (1997)
    2. Pterygium and genetic polymorphism of DNA double strand break repair gene Ku70. (PubMed id 17768380)1, 4, 9 Tsai Y.Y....Tsai F.J. (2007)
    3. The three-dimensional structure of the C-terminal DNA-binding domain of human Ku70. (PubMed id 11457852)1, 2, 9 Zhang Z.... Chen Y. (2001)
    4. Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86. (PubMed id 15075319)1, 2, 9 Wang H.... Oettgen P. (2004)
    5. Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes. (PubMed id 19251090)1, 4, 9 Werbrouck J....Thierens H. (2009)
    6. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. (PubMed id 12750264)1, 4, 9 Fu Y.P....Shen C.Y. (2003)
    7. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 2, 9 Willis D.M.... Towler D.A. (2002)
    8. DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PubMed id 10026262)1, 2, 9 Chan D.W.... Lees-Miller S.P. (1999)
    9. Ku is a 5'-dRP/AP lyase that excises nucleotide damag e near broken ends. (PubMed id 20383123)1, 2 Roberts S.A....Ramsden D.A. (2010)
    10. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 2547 HGNC: 4055 AceView: G22P1 Ensembl:ENSG00000196419 euGenes: HUgn2547
    ECgene: XRCC6 Kegg: 2547 H-InvDB: XRCC6

    (According to HUGE)
    About This Section
      --

    (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 XRCC6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XRCC6 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/g22p1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XRCC6 gene:
    Search GeneIP for patents involving XRCC6

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

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