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FLASH GENE
Symbol XRCC6 contributors: mct/pgu - updated : 02-07-2015
HGNC name X-ray repair complementing defective repair in Chinese hamster cells 6 (Ku autoantigen, 70kDa)
HGNC id 4055
Location 22q13.2      Physical location : 42.017.294 - 42.060.052
Synonym name
  • thyroid autoantigen 70kDa (Ku antigen)
  • CTC box binding factor 75 kDa subunit
  • Ku autoantigen, 70kDa
  • lupus Ku autoantigen protein p70
  • ATP-dependent DNA helicase II, 70 kDa subunit
    • Synonym symbol(s) KUP70, KU70, CTC75, CTCBF, G22P1, ML8, TLAA, D22S731, D22S671
    DNA
    TYPE functioning gene
    STRUCTURE 42.76 kb     13 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2156 - 609 - 1994 8258294
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Reproductivemale systemtestis  highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SAP domain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Xenopus KU70
    Homologene
    FAMILY
  • ATP-dependent DNA helicase family
  • ku70 family
    • CATEGORY enzyme , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in DNA double-strand break repair by non homologous end joining and V(D)J recombination
  • XRCC5-JUN activates JUN expression by binding to the GAGCCTC element in the JUN promoter and XRCC6 may also serve a role
  • is a novel DNA sensor inducing the IFNL1 activation
  • play an essential role in the DNA double-strand break (DSB) repair pathway, i.e., nonhomologous DNA-end-joining (NHEJ)
    • CELLULAR PROCESS nucleotide, repair, recombination
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KUP80 (XRCC5) to form an ATP dependent DNA unwinding enzyme (helicase II) and the regulatory component of a DNA dependentprotein kinase (PRKDC)
  • binding to DNA double strand break ends and recruiting XRCC4-LIG4
  • XRCC6/XRCC5 heterodimer is located at telomeres but its precise function in telomere maintenance is not known, but potentially enhances TERF2 chromatin association and non-chromatin bound TERF2 is targeted to the proteasome
  • XRCC5 works as a heterodimer with XRCC6
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binding XRCC5 (KUP80) stimulating WRN exonuclease activity and facilitating digestion of damaged DNA
  • 70 kDa subunit binds to the osteoblast-specific
    • transcription factors MSX2, RUNX2 and DLX5
  • interacting with DCLRE1C and the DNA-dependent protein kinase catalytic subunit at DNA ends
  • interacting with SIRT3 (stress-responsive deacetylase in cardiomyocytes that protects cells from stress-mediated cell death by deacetylation of XRCC6)
  • with XRCC6, are FXR associated factors (function as corepressors for FXR)
  • interacting with COIL
  • interacts directly with BAZ1A and is required for the accumulation of XRCC proteins at DNA double-strand breaks
  • strong interaction of TOP2B with XRCC6 as well as PARP1 suggesting that TOP2B is associated both in XRCC6 and PARP-dependent pathways in DSBs repair in primary neurons
  • interaction between CFLAR and the DNA repair protein XRCC6 that regulates CFLAR protein stability by inhibiting its polyubiquitination
  • interaction of DEAF1 with XRCC6 and XRCC5
  • interaction of RECQL with XRCC5/XRCC6 and role of the human RecQ helicase in double-strand break repair through nonhomologous end-joining
  • KDM5B is required for efficient DSB repair and for the recruitment of XRCC6 and BRCA1, the essential component of nonhomologous end-joining and homologous recombination, respectively
  • interaction between TERT and PTTG1 by association of XRCC6 might be important for the enhancement of the limited self-renewal activity of MSCs and for understanding the regulatory mechanisms of self-renewal
  • DDB2 is critical for chromatin association of XRCC5/XRCC6 in the absence of DNA damage and provide evidence that XRCC5/XRCC6 are functional partners of DDB2 in its transcriptional stimulatory activity
    • cell & other
    REGULATION
    induced by FGF2 in osteoblasts
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to scleroderma-polymyositis syndrome
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target XRCC6 is a regulator of Bax-mediated pathogenesis and a therapeutic target in laminin-alpha2-deficiency (MDC1A)
    ANIMAL & CELL MODELS