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

Gene ID: 2547, updated on 4-Nov-2018

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; Vega:OTTHUMG00000151190
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

Genomic context

See XRCC6 in Genome Data Viewer
Location:
22q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41621163..41664048)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42017250..42060052)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene phosphomannomutase 1 Neighboring gene desumoylating isopeptidase 1 Neighboring gene protein LLP homolog pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • 2-LTR circle formation, organism-specific biosystem (from REACTOME)
    2-LTR circle formation, organism-specific biosystemThe formation of 2-LTR circles requires the action of the cellular non-homologous DNA end-joining pathway. Specifically the cellular Ku, XRCC4 and ligase IV proteins are needed. Evidence for this i...
  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Coregulation of Androgen receptor activity, organism-specific biosystem
    Coregulation of Androgen receptor activity
  • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
    Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • DNA-PK complex, organism-specific biosystem (from KEGG)
    DNA-PK complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • DNA-PK complex, conserved biosystem (from KEGG)
    DNA-PK complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Early Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
    Early Phase of HIV Life Cycle, organism-specific biosystemIn the early phase of HIV lifecycle, an active virion binds and enters a target cell mainly by specific interactions of the viral envelope proteins with host cell surface receptors. The virion core...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • HIV Life Cycle, organism-specific biosystem (from REACTOME)
    HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
  • IRF3-mediated induction of type I IFN, organism-specific biosystem (from REACTOME)
    IRF3-mediated induction of type I IFN, organism-specific biosystemTANK-binding kinase 1 (TBK1) and interferon regulatory factor 3 (IRF3) are central regulators of type-I interferon induction during bacterial or viral infection. TBK1 was found to form complexes with...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Integration of provirus, organism-specific biosystem (from REACTOME)
    Integration of provirus, organism-specific biosystemFor retroviral DNA to direct production of progeny virions it must become covalently integrated into the host cell chromosome (reviewed in Coffin et al. 1997; Hansen et al. 1998). Analyses of mutants...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Non-homologous end joining, organism-specific biosystem (from WikiPathways)
    Non-homologous end joining, organism-specific biosystem(From http://en.wikipedia.org/wiki/Non-homologous_end_joining) Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA. NHEJ is referred to as "non-homologous" because...
  • Non-homologous end-joining, organism-specific biosystem (from KEGG)
    Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Non-homologous end-joining, conserved biosystem (from KEGG)
    Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • STING mediated induction of host immune responses, organism-specific biosystem (from REACTOME)
    STING mediated induction of host immune responses, organism-specific biosystemSTING (stimulator of IFN genes; also known as MITA/ERIS/MPYS/TMEM173) is an endoplasmic reticulum (ER) resident, which is required for effective type I IFN production in response to nucleic acids. In...
  • Signaling events mediated by HDAC Class III, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class III, organism-specific biosystem
    Signaling events mediated by HDAC Class III

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-deoxyribose-5-phosphate lyase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA binding HDA PubMed 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA ligation TAS
Traceable Author Statement
more info
PubMed 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
activation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
cellular response to X-ray IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to gamma radiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via classical nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via nonhomologous end joining IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
PubMed 
establishment of integrated proviral latency TAS
Traceable Author Statement
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
protein heterotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Ku70:Ku80 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ku70:Ku80 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nonhomologous end joining complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear telomere cap complex TAS
Traceable Author Statement
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 
transcription factor 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)

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_001288976.1NP_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, BU751953, BU902323, DA647513, DA718140, DC383335
    Consensus CDS
    CCDS14021.1
    UniProtKB/Swiss-Prot
    P12956
    UniProtKB/TrEMBL
    A0A024R1N4
    Related
    ENSP00000384257.1, OTTHUMP00000199349, ENST00000405878.5, OTTHUMT00000321717
    Conserved Domains (1) summary
    TIGR00578
    Location:26608
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
  2. NM_001288977.1NP_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, Z83840
    Consensus CDS
    CCDS74870.1
    UniProtKB/Swiss-Prot
    P12956
    Related
    ENSP00000384941.3, OTTHUMP00000199332, ENST00000402580.7, OTTHUMT00000321687
    Conserved Domains (1) summary
    TIGR00578
    Location:26567
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
  3. NM_001288978.1NP_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
    Related
    ENSP00000403679.3, ENST00000428575.6
    Conserved Domains (1) summary
    TIGR00578
    Location:16558
    ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
  4. NM_001469.4NP_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, CD683757, DB057280, DC386009
    Consensus CDS
    CCDS14021.1
    UniProtKB/Swiss-Prot
    P12956
    UniProtKB/TrEMBL
    A0A024R1N4
    Related
    ENSP00000353192.3, OTTHUMP00000199331, ENST00000360079.7, OTTHUMT00000321686
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    41621163..41664048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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