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    XRCC5 X-ray repair cross complementing 5 [ Homo sapiens (human) ]

    Gene ID: 7520, updated on 7-Jul-2024

    Summary

    Official Symbol
    XRCC5provided by HGNC
    Official Full Name
    X-ray repair cross complementing 5provided by HGNC
    Primary source
    HGNC:HGNC:12833
    See related
    Ensembl:ENSG00000079246 MIM:194364; AllianceGenome:HGNC:12833
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KU80; KUB2; Ku86; NFIV; KARP1; KARP-1
    Summary
    The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 87.8), lymph node (RPKM 70.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See XRCC5 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (216109348..216206293)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (216592973..216691715)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216974071..217071016)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene melanoregulin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17085 Neighboring gene peroxisomal trans-2-enoyl-CoA reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:216973795-216974416 Neighboring gene transmembrane protein 169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17089 Neighboring gene Sharpr-MPRA regulatory regions 7837 and 8351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17092 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:217020960-217022159 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene DNA polymerase eta pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17093 Neighboring gene long intergenic non-protein coding RNA 1963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:217147950-217148470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:217148471-217148990 Neighboring gene membrane associated ring-CH-type finger 4 Neighboring gene uncharacterized LOC107985983 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:217180211-217181410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:217183431-217184162 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:217184163-217184894

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Ku protein binds to HIV-1 TAR RNA and is involved in the stimulation of the elongation property of RNA polymerase II as well as the activation of several transcription factors, suggesting a role in HIV-1 gene expression and Tat transactivation PubMed
    integrase gag-pol Ku80 associates with viral preintegration complexes containing HIV-1 Integrase PubMed
    gag-pol DNA-PK, along with Ku70 and Ku80, is proposed to play a role in retroviral DNA integration and protects cells against toxicity induced by HIV-1 Integrase or integration PubMed
    matrix gag HIV-1 MA interacts with XRCC5 (Ku80) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39089

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 5'-deoxyribose-5-phosphate lyase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to DNA end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U3 snoRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in activation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular hyperosmotic salinity response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomerase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to chromosome, telomeric region TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in recombinational repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of telomere maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in small-subunit processome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of DNA-dependent protein kinase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of DNA-dependent protein kinase-DNA ligase 4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Ku70:Ku80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Ku70:Ku80 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Ku70:Ku80 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of Ku70:Ku80 complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    part_of nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear telomere cap complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in site of DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    X-ray repair cross-complementing protein 5
    Names
    86 kDa subunit of Ku antigen
    ATP-dependent DNA helicase 2 subunit 2
    ATP-dependent DNA helicase II 80 kDa subunit
    CTC box-binding factor 85 kDa subunit
    CTC85
    CTCBF
    DNA repair protein XRCC5
    Ku autoantigen, 80kDa
    Ku86 autoantigen related protein 1
    TLAA
    X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
    lupus Ku autoantigen protein p86
    nuclear factor IV
    thyroid-lupus autoantigen
    NP_066964.1
    XP_054199770.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029780.1 RefSeqGene

      Range
      5052..101997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021141.4NP_066964.1  X-ray repair cross-complementing protein 5

      See identical proteins and their annotated locations for NP_066964.1

      Status: REVIEWED

      Source sequence(s)
      BG717693, BP375944, BU184024, M30938, X57500
      Consensus CDS
      CCDS2402.1
      UniProtKB/Swiss-Prot
      A8K3X5, P13010, Q0Z7V0, Q4VBQ5, Q53HH7, Q7M4N0, Q9UCQ0, Q9UCQ1
      Related
      ENSP00000375977.2, ENST00000392132.7
      Conserved Domains (3) summary
      cd00873
      Location:244543
      KU80; Ku-core domain, Ku80 subfamily; Ku80 is a subunit of the Ku protein, which plays a key role in multiple nuclear processes such as DNA repair, chromosome maintenance, transcription regulation, and V(D)J recombination. The mechanism underlying the ...
      pfam03731
      Location:9244
      Ku_N; Ku70/Ku80 N-terminal alpha/beta domain
      pfam08785
      Location:593705
      Ku_PK_bind; Ku C terminal domain like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      216109348..216206293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      216592973..216691715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343795.1XP_054199770.1  X-ray repair cross-complementing protein 5 isoform X1