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    XRCC6 X-ray repair cross complementing 6 [ Homo sapiens (human) ]

    Gene ID: 2547, updated on 5-Feb-2023

    Summary

    Official Symbol
    XRCC6provided by HGNC
    Official Full Name
    X-ray repair cross complementing 6provided by HGNC
    Primary source
    HGNC:HGNC:4055
    See related
    Ensembl:ENSG00000196419 MIM:152690; AllianceGenome:HGNC:4055
    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
    ML8; KU70; TLAA; CTC75; CTCBF; G22P1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 152.7), lymph node (RPKM 92.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See XRCC6 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41621295..41664041)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42100225..42143017)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42017299..42060045)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene phosphomannomutase 1 Neighboring gene desumoylating isopeptidase 1 Neighboring gene protein LLP homolog Neighboring gene RNA, U6 small nuclear 476, pseudogene Neighboring gene small nuclear ribonucleoprotein 13

    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

    Replication interactions

    Interaction Pubs
    HIV-1 NL4-3 replication is restricted by XRCC6 as enhanced replication was discovered when XRCC6 is deleted through CRISPR/Cas9 genome editing in primary CD4+ T cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat interacts with TOP2B (topoisomeraseIIb), XRCC6 (Ku70), and PARP1 during transactivation and viral replication PubMed
    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
    tat X-ray repair cross-complementing protein 6 (XRCC6, KU70) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    Vif vif Ku70, which is a component of HIV-1 preintegration complexes, was shown to bind to HIV-1 Vif in a yeast two-hybrid screen of a human lymphocyte cDNA library PubMed
    integrase gag-pol Ku70 is incorporated into viral particles and stabilizes HIV-1 IN expression PubMed
    gag-pol HIV-1 IN binds to Ku70 via the C-terminal half of IN (residues 112-288), leading to protect IN from degradation by reducing the total ubiquitination level in the host cells PubMed
    gag-pol Ku70 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 XRCC6 (Ku70) 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 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 helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables cyclin binding IPI
    Inferred from Physical Interaction
    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
    PubMed 
    contributes_to double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    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 scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA ligation 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 response to X-ray IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to gamma radiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    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 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 positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of lymphocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    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 telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in telomere maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of DNA-dependent protein kinase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of Ku70:Ku80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    located_in chromosome, telomeric region HDA PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen 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 TAS
    Traceable Author Statement
    more info
    PubMed 
    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 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    X-ray repair cross-complementing protein 6
    Names
    5'-dRP lyase Ku70
    5'-deoxyribose-5-phosphate lyase Ku70
    70 kDa subunit of Ku antigen
    ATP-dependent DNA helicase 2 subunit 1
    ATP-dependent DNA helicase II, 70 kDa subunit
    CTC box binding factor 75 kDa subunit
    DNA repair protein XRCC6
    Ku autoantigen p70 subunit
    Ku autoantigen, 70kDa
    X-ray repair complementing defective repair in Chinese hamster cells 6
    lupus Ku autoantigen protein p70
    thyroid autoantigen 70kD (Ku antigen)
    thyroid autoantigen 70kDa (Ku antigen)
    thyroid-lupus autoantigen p70

    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.

    mRNA and Protein(s)

    1. NM_001288976.2NP_001275905.1  X-ray repair cross-complementing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001275905.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      BC001583, BU902323, DA647513, DA718140, DC383335, Z83840
      Consensus CDS
      CCDS14021.1
      UniProtKB/Swiss-Prot
      P12956, Q9UCQ3
      UniProtKB/TrEMBL
      A0A024R1N4
      Related
      ENSP00000352257.4, ENST00000359308.8
      Conserved Domains (1) summary
      TIGR00578
      Location:26608
      ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
    2. NM_001288977.2NP_001275906.1  X-ray repair cross-complementing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001275906.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region. The encoded protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK055786, BQ217843, BU584415, BU751953
      Consensus CDS
      CCDS74870.1
      UniProtKB/Swiss-Prot
      P12956
      Related
      ENSP00000384941.3, ENST00000402580.7
      Conserved Domains (1) summary
      TIGR00578
      Location:26567
      ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
    3. NM_001288978.2NP_001275907.1  X-ray repair cross-complementing protein 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses a downstream translation start, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK293439, AK304580, BI222708, BU751953, Z83840
      Consensus CDS
      CCDS74871.1
      UniProtKB/TrEMBL
      B1AHC9, B4DE32, B4E356, F5H1I8
      Related
      ENSP00000403679.3, ENST00000428575.6
      Conserved Domains (1) summary
      TIGR00578
      Location:16558
      ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
    4. NM_001469.5NP_001460.1  X-ray repair cross-complementing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK055786, BC012154, BC018259
      Consensus CDS
      CCDS14021.1
      UniProtKB/Swiss-Prot
      P12956, Q9UCQ3
      UniProtKB/TrEMBL
      A0A024R1N4
      Related
      ENSP00000353192.3, ENST00000360079.8
      Conserved Domains (1) summary
      TIGR00578
      Location:26608
      ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41621295..41664041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441304.1XP_047297260.1  X-ray repair cross-complementing protein 6 isoform X1

      UniProtKB/TrEMBL
      F5H1I8
      Conserved Domains (1) summary
      TIGR00578
      Location:16558
      ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42100225..42143017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)