GenAge entry for XRCC6 (Homo sapiens)

Gene name (HAGRID: 117)

HGNC symbol: XRCC6
Aliases: D22S731; D22S671; KU70; ML8; G22P1
Common name: X-ray repair complementing defective repair in Chinese hamster cells 6

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description: Like its counterpart XRCC5, XRCC6 is a helicase involved in DNA repair and chromatin remodelling [579]. Also called Ku70, XRCC6 has been linked to the telomeres [158], WRN [983], and other genes putatively regulating ageing. Mice with mutations in XRCC6 and XRCC5 exhibit signs of early ageing with low cancer levels, yet since XRCC5 mutants exhibit a similar phenotype the involvement of XRCC6 in the ageing phenotype is not clear in spite of some early signs of ageing in XRCC6 mutants [1906]. It is possible that XRCC6 is involved in ageing, though further results are necessary to determine whether it plays a role in human ageing.

Cytogenetic information

Cytogenetic band: 22q13.2
Location: 41,621,163 bp to 41,664,048 bp
Orientation: Plus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000723; telomere maintenance
GO:0006266; DNA ligation
GO:0006303; double-strand break repair via nonhomologous end joining
GO:0006310; DNA recombination
GO:0006351; transcription, DNA-templated
GO:0007420; brain development
GO:0032481; positive regulation of type I interferon production
GO:0032508; DNA duplex unwinding
GO:0045892; negative regulation of transcription, DNA-templated
GO:0045893; positive regulation of transcription, DNA-templated
GO:0045944; positive regulation of transcription from RNA polymerase II promoter

And 8 more GO terms

Cellular component:

GO:0000783; nuclear telomere cap complex
GO:0000784; nuclear chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005667; transcription factor complex
GO:0005730; nucleolus
GO:0005829; cytosol
GO:0016020; membrane
GO:0043564; Ku70:Ku80 complex
GO:0070419; nonhomologous end joining complex

Function:

GO:0003677; DNA binding
GO:0003684; damaged DNA binding
GO:0003690; double-stranded DNA binding
GO:0003691; double-stranded telomeric DNA binding
GO:0004003; ATP-dependent DNA helicase activity
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0008022; protein C-terminus binding
GO:0044212; transcription regulatory region DNA binding
GO:0044822; poly(A) RNA binding
GO:0044877; macromolecular complex binding

And 2 more GO terms

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: TP53, TERT, WRN, LMNA, MYC, PARP1, BRCA1, PIN1, CREBBP, RPA1, ABL1, EP300, HTT, EEF2, PRKDC, AR, XRCC5, PCNA, TERF2, XRCC6, BAX, EMD, HSF1, YWHAZ, SDHC, TFAP2A, MDM2, H2AFX, HOXB7, HOXC4, CEBPA, ESR1, CLU, SIRT6, PDPK1, PPARG, EPS8, SIRT7, TP53BP1, SIRT3
STRING interaction network

Retrieve sequences for XRCC6

Promoter: Promoter
ORF: ORF
CDS: CDS

Homologs in model organisms

Caenorhabditis elegans: cku-70
Danio rerio: xrcc6
Drosophila melanogaster: Irbp
Mus musculus: Xrcc6
Rattus norvegicus: Xrcc6
Saccharomyces cerevisiae: YKU70
Schizosaccharomyces pombe: pku70

In other databases

GenAge model organism genes

A homolog of this gene for Caenorhabditis elegans is present as cku-70
A homolog of this gene for Mus musculus is present as Xrcc6
A homolog of this gene for Saccharomyces cerevisiae is present as YKU70

LongevityMap

This gene is present as XRCC6