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Aliases for XRCC6 Gene

Aliases for XRCC6 Gene

  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 6 2 3 4
  • G22P1 3 4 6
  • TLAA 3 4 6
  • KU70 3 4 6
  • ATP-Dependent DNA Helicase II 70 KDa Subunit 3 4
  • Thyroid Autoantigen 70kDa (Ku Antigen) 2 3
  • ATP-Dependent DNA Helicase 2 Subunit 1 3 4
  • Thyroid Autoantigen 70kD (Ku Antigen) 2 3
  • CTC Box-Binding Factor 75 KDa Subunit 3 4
  • 5-Deoxyribose-5-Phosphate Lyase Ku70 3 4
  • Lupus Ku Autoantigen Protein P70 3 4
  • 70 KDa Subunit Of Ku Antigen 3 4
  • DNA Repair Protein XRCC6 3 4
  • 5-DRP Lyase Ku70 3 4
  • CTCBF 3 4
  • CTC75 3 4
  • ATP-Dependent DNA Helicase II, 70 KDa Subunit 3
  • X-Ray Repair Cross-Complementing Protein 6 3
  • CTC Box Binding Factor 75 KDa Subunit 3
  • Thyroid-Lupus Autoantigen P70 3
  • Ku Autoantigen P70 Subunit 3
  • Thyroid-Lupus Autoantigen 4
  • Ku Autoantigen, 70kDa 3
  • Ku Autoantigen 2
  • EC 4.2.99.- 4
  • EC 3.6.4.- 4
  • 70kDa 2
  • ML8 3

External Ids for XRCC6 Gene

Previous HGNC Symbols for XRCC6 Gene

  • G22P1

Previous GeneCards Identifiers for XRCC6 Gene

  • GC22P040342
  • GC22P042017
  • GC22P024982

Summaries for XRCC6 Gene

Entrez Gene Summary for XRCC6 Gene

  • 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]

GeneCards Summary for XRCC6 Gene

XRCC6 (X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 6) is a Protein Coding gene. Diseases associated with XRCC6 include systemic lupus erythematosus. Among its related pathways are Disease and Cell Cycle / Checkpoint Control. GO annotations related to this gene include transcription regulatory region DNA binding and double-stranded DNA binding.

UniProtKB/Swiss-Prot for XRCC6 Gene

  • Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3-5 direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5-deoxyribose-5-phosphate lyase (5-dRP lyase), by catalyzing the beta-elimination of the 5 deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5-dRP lyase activity allows to clean the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription.

Gene Wiki entry for XRCC6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XRCC6 Gene

Genomics for XRCC6 Gene

Regulatory Elements for XRCC6 Gene

Genomic Location for XRCC6 Gene

Start:
41,621,119 bp from pter
End:
41,664,048 bp from pter
Size:
42,930 bases
Orientation:
Plus strand

Genomic View for XRCC6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XRCC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC6 Gene

Proteins for XRCC6 Gene

  • Protein details for XRCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12956-XRCC6_HUMAN
    Recommended name:
    X-ray repair cross-complementing protein 6
    Protein Accession:
    P12956
    Secondary Accessions:
    • B1AHC8
    • Q6FG89
    • Q9UCQ2
    • Q9UCQ3

    Protein attributes for XRCC6 Gene

    Size:
    609 amino acids
    Molecular mass:
    69843 Da
    Quaternary structure:
    • Heterodimer of a 70 kDa (XRCC6) and a 80 kDa (XRCC5) subunit. The dimer associates in a DNA-dependent manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4 complex. The dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin expression. In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interacts with XRCC6BP1. The XRCC5/6 dimer associates in a DNA-dependent manner with APEX1. Binds to CDK9 isoform 2. Identified in a complex with DEAF1 and XRCC5. Interacts with DEAF1 (via the SAND domain); the interaction is direct and may be inhibited by DNA-binding (PubMed:10219089, PubMed:11493912, PubMed:12145306, PubMed:12509254, PubMed:12547193, PubMed:15075319, PubMed:20493174, PubMed:22442688, PubMed:8621488, PubMed:9742108). Interacts with C9orf142/PAXX (PubMed:25574025). Interacts with CLU (By similarity).
    Miscellaneous:
    • Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in most sera from patients with SLE seem to be reactive with this region

    Three dimensional structures from OCA and Proteopedia for XRCC6 Gene

    Alternative splice isoforms for XRCC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XRCC6 Gene

Proteomics data for XRCC6 Gene at MOPED

Post-translational modifications for XRCC6 Gene

  • Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair.
  • Ubiquitination at Lys100, Lys114, Lys123, Lys129, Lys182, Lys238, Lys287, Lys317, Lys351, Lys357, Lys445, Lys451, Lys461, Lys565, Lys570, Lys575, and Lys605
  • Modification sites at PhosphoSitePlus

Other Protein References for XRCC6 Gene

No data available for DME Specific Peptides for XRCC6 Gene

Domains for XRCC6 Gene

Graphical View of Domain Structure for InterPro Entry

P12956

UniProtKB/Swiss-Prot:

XRCC6_HUMAN :
  • P12956
Domain:
  • Contains 1 Ku domain.
  • Contains 1 SAP domain.
Family:
  • Belongs to the ku70 family.
genes like me logo Genes that share domains with XRCC6: view

No data available for Gene Families for XRCC6 Gene

Function for XRCC6 Gene

Molecular function for XRCC6 Gene

UniProtKB/Swiss-Prot Function: Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3-5 direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5-deoxyribose-5-phosphate lyase (5-dRP lyase), by catalyzing the beta-elimination of the 5 deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5-dRP lyase activity allows to clean the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription.
UniProtKB/Swiss-Prot Induction: In osteoblasts, by FGF2

Enzyme Numbers (IUBMB) for XRCC6 Gene

Gene Ontology (GO) - Molecular Function for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 1537839
GO:0003684 damaged DNA binding IEA --
GO:0003690 double-stranded DNA binding TAS 7957065
GO:0003691 contributes_to double-stranded telomeric DNA binding IDA 10409678
GO:0004003 ATP-dependent DNA helicase activity IEA --
genes like me logo Genes that share ontologies with XRCC6: view
genes like me logo Genes that share phenotypes with XRCC6: view

Animal Models for XRCC6 Gene

MGI Knock Outs for XRCC6:

No data available for Transcription Factor Targeting and HOMER Transcription for XRCC6 Gene

Localization for XRCC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC6 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XRCC6 Gene COMPARTMENTS Subcellular localization image for XRCC6 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000783 nuclear telomere cap complex TAS 15100233
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 12145306
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with XRCC6: view

Pathways for XRCC6 Gene

genes like me logo Genes that share pathways with XRCC6: view

Pathways by source for XRCC6 Gene

Gene Ontology (GO) - Biological Process for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS 15824061
GO:0006266 DNA ligation TAS 9826654
GO:0006281 DNA repair TAS --
GO:0006302 double-strand break repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS 15824061
genes like me logo Genes that share ontologies with XRCC6: view

Compounds for XRCC6 Gene

(14) Novoseek inferred chemical compound relationships for XRCC6 Gene

Compound -log(P) Hits PubMed IDs
p-350 77.7 1
suberoylanilide hydroxamic acid 67.4 1
bleomycin 47.5 3
methylmethanesulfonate 39.6 1
threonine 31.3 1
genes like me logo Genes that share compounds with XRCC6: view

Transcripts for XRCC6 Gene

Unigene Clusters for XRCC6 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for XRCC6 Gene

GeneLoc Exon Structure for
XRCC6
ECgene alternative splicing isoforms for
XRCC6

Expression for XRCC6 Gene

mRNA expression in normal human tissues for XRCC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for XRCC6 Gene

SOURCE GeneReport for Unigene cluster for XRCC6 Gene Hs.292493

genes like me logo Genes that share expressions with XRCC6: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for XRCC6 Gene

Orthologs for XRCC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XRCC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XRCC6 35
  • 97.65 (n)
  • 97.48 (a)
XRCC6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XRCC6 35
  • 86.61 (n)
  • 85.12 (a)
XRCC6 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC6 35
  • 87.13 (n)
  • 84.65 (a)
XRCC6 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xrcc6 35
  • 82.34 (n)
  • 83.5 (a)
Xrcc6 16
Xrcc6 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XRCC6 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Xrcc6 35
  • 83.17 (n)
  • 83.66 (a)
chicken
(Gallus gallus)
Aves XRCC6 35
  • 71.55 (n)
  • 70.02 (a)
XRCC6 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC6 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398357 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11953 35
xrcc6 35
  • 66.21 (n)
  • 67.93 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6264 35
zebrafish
(Danio rerio)
Actinopterygii LOC100536337 35
  • 62.21 (n)
  • 59.43 (a)
OTTDARG00000020547 36
  • 58 (a)
OneToMany
wufi87b06 35
xrcc6 36
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002690 35
  • 45.63 (n)
  • 33.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Irbp 35
  • 40.48 (n)
  • 27.38 (a)
Irbp 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cku-70 35
  • 41.08 (n)
  • 27.14 (a)
cku-70 36
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKU70 35
  • 38.31 (n)
  • 24.72 (a)
YKU70 36
  • 18 (a)
OneToOne
YKU70 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06226g 35
  • 39.74 (n)
  • 29.1 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons KU70 35
  • 44.17 (n)
  • 34.1 (a)
rice
(Oryza sativa)
Liliopsida Os07g0184900 35
  • 43.93 (n)
  • 33.04 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08290 35
  • 42.54 (n)
  • 28.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pku70 35
  • 41.61 (n)
  • 29.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for XRCC6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XRCC6 Gene

ENSEMBL:
Gene Tree for XRCC6 (if available)
TreeFam:
Gene Tree for XRCC6 (if available)

Paralogs for XRCC6 Gene

Selected SIMAP similar genes for XRCC6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with XRCC6: view

No data available for Paralogs for XRCC6 Gene

Variants for XRCC6 Gene

Sequence variations from dbSNP and Humsavar for XRCC6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs16383 -- 41,652,247(-) AAAGA(-/AGA)TAGGG intron-variant
rs16384 -- 41,649,005(+) GCTGA(-/AAC/ACA)AGGAG intron-variant
rs132771 -- 41,629,346(+) gtggc(A/G)tatag intron-variant
rs132772 -- 41,635,708(+) TTTTT(-/T)GTTTG intron-variant
rs132773 -- 41,635,764(+) CTCGA(A/T)CTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XRCC6 Gene

Variant ID Type Subtype PubMed ID
nsv524585 CNV Loss 19592680
nsv834209 CNV Loss 17160897

Relevant External Links for XRCC6 Gene

HapMap Linkage Disequilibrium report
XRCC6
Human Gene Mutation Database (HGMD)
XRCC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC6 Gene

Disorders for XRCC6 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for XRCC6 Gene including...

Search for XRCC6 Gene in MalaCards »

(2) University of Copenhagen DISEASES for XRCC6 Gene

(18) Novoseek inferred disease relationships for XRCC6 Gene

Disease -log(P) Hits PubMed IDs
bloom syndrome 51.1 1
ataxia telangiectasia 49.9 3
nsclc 22.2 2
cancer 19.9 6
tumors 16.9 27

Relevant External Links for XRCC6

Genetic Association Database (GAD)
XRCC6
Human Genome Epidemiology (HuGE) Navigator
XRCC6
genes like me logo Genes that share disorders with XRCC6: view

No data available for UniProtKB/Swiss-Prot for XRCC6 Gene

Publications for XRCC6 Gene

  1. Double-strand break repair by Ku70 requires heterodimerization with Ku80 and DNA binding functions. (PMID: 9362500) Jin S. … Weaver D.T. (EMBO J. 1997) 3 4 23
  2. DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PMID: 10026262) Chan D.W. … Lees-Miller S.P. (Biochemistry 1999) 3 4 23
  3. The three-dimensional structure of the C-terminal DNA-binding domain of human Ku70. (PMID: 11457852) Zhang Z. … Chen Y. (J. Biol. Chem. 2001) 3 4 23
  4. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. (PMID: 12750264) Fu Y.P. … Shen C.Y. (Cancer Res. 2003) 3 23 48
  5. Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86. (PMID: 15075319) Wang H. … Oettgen P. (J. Biol. Chem. 2004) 3 4 23

Products for XRCC6 Gene

  • Addgene plasmids for XRCC6

Sources for XRCC6 Gene

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