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FLASH GENE
Symbol XRCC5 contributors: mct - updated : 02-05-2014
HGNC name X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)
HGNC id 12833
Location 2q35      Physical location : 216.974.019 - 217.071.014
Synonym name
  • ATP dependent DNA helicase 2
  • repair X-ray defect, complementing defect in CHO cells 5, KU autoantigen
  • 86 kDa subunit of Ku antigen
  • Synonym symbol(s) KUB2, KUP80, KU80, KU86, NFIV, KARP1, KARP-1
    DNA
    TYPE functioning gene
    STRUCTURE 96.99 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter region contains several copies of Sp1 recognition cis regulatory elements (Ku promoter binding element)
  • MAPPING cloned Y linked N status confirmed
    Physical map
    LOC391481 2 similar to Alpha-endosulfine BARD1 2q34-q35 BRCA1 associated RING domain 1 LOC285176 2q35 similar to 60S ribosomal protein L10 (QM protein homolog) ABCA12 2q34 ATP-binding cassette, sub-family A (ABC1), member 12 ATIC 2q35 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase FN1 2q35 fibronectin 1 LOC151575 2q35 similar to MLRQ subunit of the NADH: ubiquinone oxidoreductase complex FLJ10116 2q35 hypothetical protein FLJ10116 PECR 2q35 hypothetical protein FLJ10116 LOC92691 2q35 hypothetical protein BC008604 XRCC5 2q35 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa) KIAA1399 2q35 KIAA1399 protein SMARCAL1 2q34-q36 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 RPL37A 2q35 ribosomal protein L37a LOC130700 2q35 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene IGFBP2 2q33-q34 insulin-like growth factor binding protein 2, 36kDa IGFBP5 2q33-q34 insulin-like growth factor binding protein 5 LOC391483 2 similar to ribosomal protein L31 TNP1 2q34-q36 transition protein 1 (during histone to protamine replacement) LOC151363 2q35 hypothetical LOC151363 TNS 2q35-q36 tensin FLJ46536 2q35 FLJ46536 protein IL8RB 2q35 interleukin 8 receptor, beta IL8RA 2q35 interleukin 8 receptor, alpha ARPC2 13q12-q13 actin related protein 2/3 complex, subunit 2, 34kDa GPBAR1 2q36.1 G protein-coupled bile acid receptor 1 AAMP 2q36.1 angio-associated, migratory cell protein MR-1 2q35 myofibrillogenesis regulator 1 PP1201 2p24.3-p24.1 PP1201 protein MGC50811 2q35 hypothetical gene supported by BC052750
    RNA
    TRANSCRIPTS type messenger
    text an alternative truncated form (68kb)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3448 80 732 - 2000 11000272
    - - - 68 - mitochondrial 2000 11000272
  • C-terminally truncated form of Ku80 localized in mammalian mitochondria where it functions in a DNA end-binding activity
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     pharynx   highly
    Skin/Tegumentskin   highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • WW factor type A domain
  • EEXXXDDL motif required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage
  • C-terminal domain and C493 of XRCC5 play at most a minor role in the redox regulation of Ku, and other cysteines are likely involved, either alone or in conjunction with these regions of XRCC5 ,
  • and nuclear localization signal (NLS) localized in the C-terminal region
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Xenopus KU80
    Homologene
    FAMILY
    CATEGORY DNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus,nucleoplasm
    text
  • localizes within the nucleus in NLS-dependent and NLS-independent manner and forms a heterodimer with XRCC6, and stabilizes XRCC6
  • basic FUNCTION
  • involved in DNA double-strand break repair by end joining (non homologous recombination NHEJ) and V(D)J recombination and in telomere homeostasis
  • involved in embryonic neurogenesis
  • facilitates DNA repair and therefore should suppress cancer
  • facilitates tumor growth most likely by dampening baseline cellular DNA damage responses
  • XRCC5-JUN activates JUN expression by binding to the GAGCCTC element in the JUN promoter and XRCC6 may also serve a role
  • ATP-dependent DNA helicase, which is a potential chronic obstructive pulmonary disease susceptibility gene (
  • appears to be essential for human but not rodent cell survival
  • may have a novel role in DSB response
  • may function as an oncogene in the development of cancers
  • CELLULAR PROCESS nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KUP70 (G22P1) to form an ATP dependent DNA unwinding enzyme (helicase II) and the regulatory component of a DNA dependent protein kinase (PRKDC)
  • binding to DNA double strand break ends and recruiting XRCC4-LIG4, facilitated by POLM
  • 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
  • G22P (KUP70)
  • with XRCC6, are FXR associated factors (function as corepressors for FXR)
  • WRN, Ku heterodimer, stimulating exonuclear activity and facilitating digestion of damaged DNA
  • interacting with COIL
  • 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
  • NEK1 may facilitate S-phase progression by interacting with XRCC5 and regulating chromatin loading of replication factors
  • 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 by FGF2 in osteoblasts
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to myeloma for some htSNPs
  • to cancer
  • Variant & Polymorphism SNP
  • increasing the risk of multiple myeloma
  • 3R allele compared to 0R allele may have protected role against development of cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS