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XRCC6 Gene

protein-coding   GIFtS: 70
GCID: GC22P042017

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

(Previous names: thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen...)
(Previous symbol: G22P1)
  See XRCC6-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 systemic lupus erythematosus. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 Chromatin IP Primers for XRCC6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Identified in a complex with DEAF1 and XRCC5.
Interacts with DEAF1 (via the SAND domain); the interaction is direct and may be inhibited by DNA-binding
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: 

  • Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair1
  • Ubiquitination2 at Lys100, Lys114, Lys123, Lys129, Lys182, Lys238, Lys287, Lys317, Lys351, Lys357,
                                 Lys445, Lys451, Lys461, Lys565, Lys570, Lys575, Lys605
  • Modification sites at PhosphoSitePlus

  • See XRCC6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001275905.1  NP_001275906.1  NP_001275907.1  NP_001460.1  

    ENSEMBL proteins: 
     ENSP00000353192   ENSP00000384941   ENSP00000352257   ENSP00000384257   ENSP00000384082  
     ENSP00000403679  
    Reactome Protein details: P12956

    XRCC6 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for XRCC6
    OriGene MassSpec for XRCC6
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    GenScript Custom Purified and Recombinant Proteins Services for XRCC6
    Novus Biologicals XRCC6 Proteins
    Novus Biologicals XRCC6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for XRCC6
    Cloud-Clone Corp. Proteins for XRCC6

     
    Search eBioscience for Proteins for XRCC6 

    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
    Novus Biologicals XRCC6 Antibodies
    Abcam antibodies for XRCC6 (P13010, P12956)
    Cloud-Clone Corp. Antibodies for XRCC6
    ThermoFisher Antibody for XRCC6
    LSBio Antibodies in human, mouse, rat for XRCC6

    XRCC6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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
    Search eBioscience for ELISAs for XRCC6 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR005160 Ku_C
     IPR005161 Ku_N
     IPR006165 Ku70
     IPR016194 SPOC_like_C_dom
     IPR003034 SAP_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


    Find genes that share domains with XRCC6           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 13):    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
         
    Find genes that share ontologies with XRCC6           About GenesLikeMe


    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/body  hematopoietic system  immune system 
     nervous system  reproductive system  tumorigenesis 

    Find genes that share phenotypes with XRCC6           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XRCC6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target XRCC6:
    hsa-mir-423-3p (MIRT042559), hsa-mir-941 (MIRT036579), hsa-mir-100-5p (MIRT048583), hsa-mir-766-3p (MIRT039005), hsa-mir-877-3p (MIRT036849), hsa-mir-181b-5p (MIRT047271), hsa-mir-324-3p (MIRT042905), hsa-mir-326 (MIRT043624), hsa-mir-671-5p (MIRT039281), hsa-mir-128-3p (MIRT045877), hsa-mir-484 (MIRT041722), hsa-mir-193b-3p (MIRT041244), hsa-mir-505-3p (MIRT041064), hsa-mir-615-3p (MIRT039688), hsa-mir-221-3p (MIRT046859)

    Block miRNA regulation of human, mouse, rat XRCC6 using miScript Target Protectors
    2 qRT-PCR 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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    Gene Editing
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    Clone
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    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
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    Addgene plasmids for XRCC6 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XRCC6_HUMAN, P12956: Nucleus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    extracellular1
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000783nuclear telomere cap complex TAS15100233
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA12145306
    GO:0005730nucleolus IEA--

    Find genes that share ontologies with XRCC6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for XRCC6 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.37
    Non-homologous end joining0.00
    DNA damage NHEJ mechanisms of DSBs repair0.37
    2HIV Life Cycle
    HIV Life Cycle0.91
    Integration of provirus0.00
    HIV Infection0.62
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.00
    3Homologous Recombination Repair
    Double-Strand Break Repair0.70
    Nonhomologous End-joining (NHEJ)0.00
    Processing of DNA ends prior to end rejoining0.00
    4Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    IRF3-mediated induction of type I IFN0.00
    STING mediated induction of host immune responses0.00
    5Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32


    Find genes that share SuperPaths with XRCC6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for XRCC6
        DNA Repair Mechanisms
    Telomere Extension by Telomerase

    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
    BARD1 signaling events
    Signaling events mediated by HDAC Class III
    Regulation of Telomerase
    Coregulation of Androgen receptor activity


    5 Reactome Pathways for XRCC6
        Cytosolic sensors of pathogen-associated DNA
    Nonhomologous End-joining (NHEJ)
    Processing of DNA ends prior to end rejoining
    2-LTR circle formation
    IRF3-mediated induction of type I IFN


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XRCC6: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XRCC6

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

    Selected Interacting proteins for XRCC6 (P129561, 2, 3 ENSP000003522574) via UniProtKB, MINT, STRING, and/or I2D (see all 1121)
    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): Selected biological process terms (see all 21):    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

    Find genes that share ontologies with XRCC6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XRCC6

    Selected 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)



    Find genes that share compounds with XRCC6           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for XRCC6 gene (4 alternative transcripts): 
    NM_001288976.1  NM_001288977.1  NM_001288978.1  NM_001469.4  

    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
    miRNA
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    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)
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      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 2465):

    BP363687 BU177167 AU135790 BQ215391 BG252455 BU195674 BE277711 AU125546 
    BQ068587 CB143508 AI755076 BM705508 BQ938161 BI597951 CF552811 BM459075 
    BP362357 BP364611 CR612325 AU130317 BX432254 BX421842 AA429347 BM835764 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    XRCC6 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Thymus (Hematopoietic System)
             Thymus
    XRCC6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XRCC6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292493
        Pathway & Disease-focused RT2 Profiler 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
    Products:
    OriGene qPCR primer pairs and template standards for XRCC6
    OriGene qSTAR qPCR primer pairs in human, mouse for XRCC6
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    QuantiFast Probe-based Assays in human, mouse, rat XRCC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC6

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XRCC6 gene from Selected 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 82.34(n)1
    83.5(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 71.55(n)
    70.02(a)
      395767  NM_204927.1  NP_990258.1 
    lizard
    (Anolis carolinensis)
    Reptilia XRCC66
    X-ray repair complementing defective repair in Chi...
    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 40.48(n)
    27.38(a)
      117419  NM_080512.5  NP_536773.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cku-701 cku-70 41.08(n)
    27.14(a)
      176546  NM_067037.4  NP_499438.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YKU70(YMR284W)4
    YKU701
    Subunit of the telomeric Ku complex (Yku70p-Yku80p), more4
    YKU701
    38.31(n)1
    24.72(a)1
      13(838187-839995)4
    8553281, 4  NP_014011.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KU701 KU70 44.17(n)
    34.1(a)
      838268  NM_101558.3  NP_564012.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g01849001 Os07g0184900 43.93(n)
    33.04(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)
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    Paralogs for XRCC6 gene
    1 SIMAP similar gene for XRCC6 using alignment to 4 protein entries:     XRCC6_HUMAN (see all proteins):
    G22P1

    Find genes that share paralogs with XRCC6           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XRCC6 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 152690    OMIM disorders: --

    1 disease for XRCC6:    
    About MalaCards
    systemic lupus erythematosus

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

    Find genes that share disorders with XRCC6           About GenesLikeMe

    Selected 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

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    PubMed articles for XRCC6 gene, integrated from 10 sources (see all 471):
    (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. (EMBO J. 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. (Mol. Vis. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (Int. J. Radiat. Oncol. Biol. Phys. 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. (Cancer Res. 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. (J. Biol. Chem. 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. (Biochemistry 1999)
    9. Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. (PubMed id 22442688)1, 2 Jensik P.J....Collard M.W. (PLoS ONE 2012)
    10. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 2547 HGNC: 4055 AceView: G22P1 Ensembl:ENSG00000196419 euGenes: HUgn2547
    ECgene: XRCC6 Kegg: 2547 H-InvDB: XRCC6

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



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