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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 5
  • 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
  • G22P1 3 4
  • CTC75 3 4
  • TLAA 3 4
  • KU70 3 4
  • ATP-Dependent DNA Helicase II, 70 KDa Subunit 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 middle cerebral artery infarction and dna ligase iv deficiency. Among its related pathways are DNA Double-Strand Break Repair and DNA Damage. GO annotations related to this gene include poly(A) RNA binding and protein C-terminus 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

Enhancers for XRCC6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XRCC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for XRCC6 Gene

Chromosome:
22
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

Genes around XRCC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 composed of XRCC5/Ku80 and XRCC6/Ku70. 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 to form the core of the non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and C9orf142/PAXX (PubMed:25574025, PubMed:25941166, PubMed:25670504). 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 CLU (By similarity). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083).
    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 Lys 100, Lys 114, Lys 123, Lys 182, Lys 238, Lys 287, Lys 317, Lys 351, Lys 357, Lys 445, Lys 451, Lys 461, Lys 565, Lys 570, Lys 575, and Lys 605
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for XRCC6 (Ku70)

No data available for DME Specific Peptides for XRCC6 Gene

Domains & Families for XRCC6 Gene

Gene Families for XRCC6 Gene

Graphical View of Domain Structure for InterPro Entry

P12956

UniProtKB/Swiss-Prot:

XRCC6_HUMAN :
  • Contains 1 Ku domain.
  • Belongs to the ku70 family.
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

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 IEA,NAS 1537839
GO:0003691 contributes_to double-stranded telomeric DNA binding IDA 10409678
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0008022 protein C-terminus binding IPI 10783163
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:

Animal Model Products

miRNA for XRCC6 Gene

miRTarBase miRNAs that target XRCC6

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 5
nucleus 5
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:0005829 cytosol TAS --
GO:0070419 nonhomologous end joining complex IDA 20383123
genes like me logo Genes that share ontologies with XRCC6: view

Pathways & Interactions for XRCC6 Gene

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

Pathways by source for XRCC6 Gene

1 KEGG pathway for XRCC6 Gene
1 GeneGo (Thomson Reuters) pathway for XRCC6 Gene
2 Qiagen pathways for XRCC6 Gene

SIGNOR curated interactions for XRCC6 Gene

Activates:

Gene Ontology (GO) - Biological Process for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006310 DNA recombination IBA --
GO:0032481 positive regulation of type I interferon production TAS --
GO:0045087 innate immune response TAS --
GO:0045893 positive regulation of transcription, DNA-templated IMP 18809223
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IMP 18809223
genes like me logo Genes that share ontologies with XRCC6: view

Drugs & Compounds for XRCC6 Gene

(11) Drugs for XRCC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for XRCC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 in normal tissues and cell lines 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 expression patterns with XRCC6: view

Protein tissue co-expression partners for XRCC6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein 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
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
chimpanzee
(Pan troglodytes)
Mammalia XRCC6 35
  • 97.65 (n)
  • 97.48 (a)
XRCC6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc6 35
  • 83.17 (n)
  • 83.66 (a)
oppossum
(Monodelphis domestica)
Mammalia XRCC6 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11953 35
xrcc6 35
  • 66.21 (n)
  • 67.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398357 35
zebrafish
(Danio rerio)
Actinopterygii LOC100536337 35
  • 62.21 (n)
  • 59.43 (a)
wufi87b06 35
xrcc6 36
  • 58 (a)
OneToMany
OTTDARG00000020547 36
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6264 35
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
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06226g 35
  • 39.74 (n)
  • 29.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKU70 36
  • 18 (a)
OneToOne
YKU70 38
YKU70 35
  • 38.31 (n)
  • 24.72 (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

(1) 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
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

Variation tolerance for XRCC6 Gene

Residual Variation Intolerance Score: 8.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.09% of all genes are more intolerant (likely to be disease-causing)

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

(5) MalaCards diseases for XRCC6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
middle cerebral artery infarction
  • infarction middle cerebral artery
dna ligase iv deficiency
  • lig4 syndrome
lupus erythematosus
  • systemic lupus erythematosus
postencephalitic parkinson disease
  • postencephalitic parkinsonism
systemic lupus erythematosus
  • lupus nephritis
- elite association - COSMIC cancer census association via MalaCards
Search XRCC6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XRCC6

Genetic Association Database (GAD)
XRCC6
Human Genome Epidemiology (HuGE) Navigator
XRCC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XRCC6
genes like me logo Genes that share disorders with XRCC6: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Exogenously expressed human Ku70 stabilizes Ku80 in Xenopus oocytes and induces heterologous DNA-PK catalytic activity. (PMID: 20047046) Kanungo J. (Mol. Cell. Biochem. 2010) 3 23
  3. Analysis of the polymorphisms in non-homologous DNA end joining (NHEJ) gene Ku70 and Ligase IV in sporadic breast cancer in women. (PMID: 20496270) Sobczuk A. … PertyA8ski T. (Pol J Pathol 2010) 3 23
  4. Hepatitis C virus-core protein facilitates the degradation of Ku70 and reduces DNA-PK activity in hepatocytes. (PMID: 19467273) Saitou K. … Tsukiyama-Kohara K. (Virus Res. 2009) 3 23
  5. Radioresistant cervical cancer shows upregulation of the NHEJ proteins DNA-PKcs, Ku70 and Ku86. (PMID: 19672258) Beskow C. … Viktorsson K. (Br. J. Cancer 2009) 3 23

Products for XRCC6 Gene

Sources for XRCC6 Gene

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