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

Gene ID: 2547, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See XRCC6 in Genome Data Viewer
Location:
22q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41621295..41664041)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42100225..42143017)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42017299..42060045)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41984969-41985648 Neighboring gene phosphomannomutase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19122 Neighboring gene desumoylating isopeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42016465-42017066 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42026409-42027062 Neighboring gene protein LLP homolog Neighboring gene RNA, U6 small nuclear 476, pseudogene Neighboring gene small nuclear ribonucleoprotein 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The Role of Ku70 as a Cytosolic DNA Sensor in Innate Immunity and Beyond. Sui H, et al. Front Cell Infect Microbiol, 2021. PMID 34746031, Free PMC Article
  2. Inhibition of DNA Repair Protein Ku70 in High-Glucose Environment Aggravates the Neurotoxicity Induced by Bupivacaine in SH-SY5Y Cells. Ji ZH, et al. Biomed Res Int, 2020. PMID 32076604, Free PMC Article
  3. Association between the XRCC6 Promoter rs2267437 polymorphism and cancer risk: evidence based on the current literature. Xu H, et al. Genet Test Mol Biomarkers, 2013 Aug. PMID 23745766, Free PMC Article
  4. Divergence in intracellular signaling between interleukin-4 (IL-4) and IL-13 in human cells localizes to monomeric/dimeric expression of a transcription factor, the lupus autoantigen 70/80, induced by both cytokines. Kelavkar U, et al. Adv Exp Med Biol, 2002. PMID 12664629
  5. Association of X-ray repair cross-complementing-6 genotypes with childhood leukemia. Pei JS, et al. Anticancer Res, 2013 Dec. PMID 24324074

See all (703) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ku70 Binding to YAP Alters PARP1 Ubiquitination to Regulate Genome Stability and Tumorigenesis.
    Title: Ku70 Binding to YAP Alters PARP1 Ubiquitination to Regulate Genome Stability and Tumorigenesis.
  2. Critical residues in the Ku70 von Willebrand A domain mediate Ku interaction with the LigIV-XRCC4 complex in non-homologous end-joining.
    Title: Critical residues in the Ku70 von Willebrand A domain mediate Ku interaction with the LigIV-XRCC4 complex in non-homologous end-joining.
  3. m[6]A-mediated lnc-OXAR promotes oxaliplatin resistance by enhancing Ku70 stability in non-alcoholic steatohepatitis-related hepatocellular carcinoma.
    Title: m(6)A-mediated lnc-OXAR promotes oxaliplatin resistance by enhancing Ku70 stability in non-alcoholic steatohepatitis-related hepatocellular carcinoma.
  4. Ku70 senses cytosolic DNA and assembles a tumor-suppressive signalosome.
    Title: Ku70 senses cytosolic DNA and assembles a tumor-suppressive signalosome.
  5. Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer.
    Title: Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer.
  6. Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage.
    Title: Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage.
  7. TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6.
    Title: TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6.
  8. The Large Nonstructural Protein (NS1) of Human Bocavirus 1 Directly Interacts with Ku70, Which Plays an Important Role in Virus Replication in Human Airway Epithelia.
    Title: The Large Nonstructural Protein (NS1) of Human Bocavirus 1 Directly Interacts with Ku70, Which Plays an Important Role in Virus Replication in Human Airway Epithelia.
  9. Down-regulation of GP130 signaling sensitizes bladder cancer to cisplatin by impairing Ku70 DNA repair signaling and promoting apoptosis.
    Title: Down-regulation of GP130 signaling sensitizes bladder cancer to cisplatin by impairing Ku70 DNA repair signaling and promoting apoptosis.
  10. Phospho-Ku70 induced by DNA damage interacts with RNA Pol II and promotes the formation of phospho-53BP1 foci to ensure optimal cNHEJ.
    Title: Phospho-Ku70 induced by DNA damage interacts with RNA Pol II and promotes the formation of phospho-53BP1 foci to ensure optimal cNHEJ.
Submit: New GeneRIF Correction See all GeneRIFs (199)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
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 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 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
  
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
  
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 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 
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

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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)

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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_001288976.2 → NP_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
    B1AHC8, P12956, Q6FG89, Q9UCQ2, Q9UCQ3
    UniProtKB/TrEMBL
    B2RDN9
    Related
    ENSP00000352257.4, ENST00000359308.8
    Conserved Domains (1) summary
    TIGR00578
    Location:26 → 608
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

  2. NM_001288977.2 → NP_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/TrEMBL
    B2RDN9
    Related
    ENSP00000384941.3, ENST00000402580.7
    Conserved Domains (1) summary
    TIGR00578
    Location:26 → 567
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

  3. NM_001288978.2 → NP_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, F5H1I8
    Related
    ENSP00000403679.3, ENST00000428575.6
    Conserved Domains (1) summary
    TIGR00578
    Location:16 → 558
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

  4. NM_001469.5 → NP_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
    B1AHC8, P12956, Q6FG89, Q9UCQ2, Q9UCQ3
    UniProtKB/TrEMBL
    B2RDN9
    Related
    ENSP00000353192.3, ENST00000360079.8
    Conserved Domains (1) summary
    TIGR00578
    Location:26 → 608
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_047441304.1 → XP_047297260.1  X-ray repair cross-complementing protein 6 isoform X1

    UniProtKB/TrEMBL
    B1AHC9, F5H1I8
    Conserved Domains (1) summary
    TIGR00578
    Location:16 → 558
    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)

mRNA and Protein(s)

  1. XM_054325461.1 → XP_054181436.1  X-ray repair cross-complementing protein 6 isoform X1

    UniProtKB/TrEMBL
    B1AHC9, F5H1I8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12956.2 GenPept UniProtKB/Swiss-Prot:P12956

Gene LinkOut

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