XRCC6 Gene
protein-coding GIFtS: 69
GC22P040342
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X-ray repair complementing defective repair in Chinese hamster cells 6
(Previous names: thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen 70kDa (Ku antigen) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: G22P1)
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Aliases &
Descriptions
for XRCC6
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| CTC75 2, 3 | | CTCBF 2, 3 | | D22S671 1 | | D22S731 1 | | EC 3.6.1.- 3 | | G22P1 2, 3 | | KU70 1, 2 | | Ku70 3 | | ML8 1, 2 | | OTTHUMP00000028581 2 | | TLAA 2, 3 |
| | | Descriptions |
|---|
| 70 kDa subunit of Ku antigen 3 | | ATP-dependent DNA helicase II 70 kDa subunit 3 | | ATP-dependent DNA helicase II, 70 kDa subunit 2 | | CTC box binding factor 75 kDa subunit 2 | | CTC box-binding factor 75 kDa subunit 3 | | DNA repair protein XRCC6 3 | | Ku autoantigen p70 subunit 2 | | Ku autoantigen, 70kDa 2 | | Lupus Ku autoantigen protein p70 3 | | Thyroid-lupus autoantigen 3 | X-ray repair complementing defective repair in Chinese
hamster cells 6 2 | | thyroid autoantigen 70kD (Ku antigen) 1, 2 | | thyroid autoantigen 70kDa (Ku antigen) 1, 2 | | thyroid-lupus autoantigen p70 2 |
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Search outside databases for aliases for XRCC6 gene |
Summaries
for XRCC6(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for XRCC6:
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]
UniProtKB/Swiss-Prot: KU70_HUMAN, P12956Function: 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 p70. Involved in DNA nonhomologous end joining (NHEJ) required for
double-strand break repair and V(D)J recombination. The Ku p70/p86 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 Ku p70/p86 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 (By
similarity)Gene Wiki entry for XRCC6 |
Genomic Location
for XRCC6
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the XRCC6 gene 
Entrez Gene cytogenetic band: 22q13.2-q13.31 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q11-q13XRCC6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P040342:
(about GC identifiers)
Start:
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40,347,241 bp from pter |
End:
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40,389,998 bp from pter |
Size:
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42,758 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000022.9 NT_011520.11
| Proteins
for XRCC6
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: KU70_HUMAN, P12956 (See
protein sequence)Recommended Name: ATP-dependent DNA helicase 2 subunit 1 Size: 609 amino acids; 69843 Da
Subunit: Heterodimer of a 70 kDa and a 80 kDa 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 NARG1, and this complex binds to the osteocalcin promoter
and activates osteocalcin expression. In addition, the 70 kDa subunit binds to the
osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interactis
with XRCC6BP1
Subcellular location: Nucleus
Developmental stage: Expression does not increase during promyelocyte differentiation
PDB structures from  and Proteopedia  :1JEQ (3D)
1JEY (3D)
1JJR (3D)
Secondary accessions: Q6FG89 Q9UCQ2 Q9UCQ3Post-translational modifications:
Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect
DNA repair1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001460.1
ENSEMBL proteins: ENSP00000352257 ENSP00000384104 ENSP00000384082 ENSP00000384257 ENSP00000384941 ENSP00000353192
Human Recombinant Proteins  OriGene Purified Recombinant Human Protein: XRCC6
5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
): About this table
Antibodies for XRCC6:
Assays for XRCC6: | Protein
Domains/
Families
for XRCC6(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P12956
ProtoNet protein and cluster: P12956 2 Blocks protein families: IPB003034 DNA-binding SAP IPB005160 Ku70/Ku80 C-terminal arm
UniProtKB/Swiss-Prot: KU70_HUMAN, P12956Similarity: Belongs to the ku70 familySimilarity: Contains 1 Ku domainSimilarity: Contains 1 SAP domain | Gene Function
for XRCC6
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001469
 Applied Biosystems Silencer® siRNAs for XRCC6
 Sigma-Aldrich siRNA and siRNA Panels for XRCC6
Sigma-Aldrich shRNA Panels and shRNA for XRCC6
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_001469
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001469
untagged cDNA clone in CMV expression vector: NM_001469
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_001469
UniProtKB/Swiss-Prot: KU70_HUMAN, P12956Function: 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 p70. Involved in DNA nonhomologous end joining (NHEJ) required for
double-strand break repair and V(D)J recombination. The Ku p70/p86 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 Ku p70/p86 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 (By
similarity)Induction: In osteoblasts, by FGF2Enzyme Number (IUBMB): EC 3.6.1.- 7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xrcc6):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions
for XRCC6
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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Gene Network CentralTM Interacting Genes and Proteins Network for XRCC6
5/390 Interacting proteins for XRCC6 (ENSP000003522573 P129561, 2) via UniProtKB, MINT, and/or STRING (see all 390
)About this table
5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
): About this table
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Drugs & Compounds
for XRCC6(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for XRCC6
2  Novoseek chemical compound relationships for XRCC6 gene
About this table
|
Transcripts
for XRCC6(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001469
Sigma-Aldrich siRNA and siRNA Panels for XRCC6
Sigma-Aldrich shRNA Panels and shRNA for XRCC6
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_001469 REFSEQ mRNAs for XRCC6 gene: NM_001469.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001469
OriGene GFP tagged cDNA clone in CMV expression vector: NM_001469
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001469
untagged cDNA clone in CMV expression vector: NM_001469
Additional cDNA sequence: AF052148.1 AK055786.1 AK293439.1 AK304580.1 AK315618.1 BC001583.1 BC008343.1 BC010034.2 BC012154.2 BC018259.2 BC072449.1 CR456492.1 CR542219.1 CR590193.1 CR590825.1 CR590963.1 CR593727.1 CR596781.1 CR597340.1 CR597702.1 CR598672.1 CR599117.1 CR600608.1 CR601209.1 CR601883.1 CR602610.1 CR603871.1 CR606444.1 CR606919.1 CR608552.1 CR611977.1 CR612325.1 CR612909.1 CR613229.1 CR613344.1 CR615167.1 CR616120.1 CR617294.1 CR617974.1 CR619333.1 CR623859.1 CR624280.1 J04607.1 J04611.1 M32865.1 S38729.1 24/103 DOTS entries (see all 103
): DT.97801829 DT.100891260 DT.92002298 DT.40237757 DT.91936042 DT.100891297 DT.100891332 DT.100891263 DT.100836467 DT.100753842 DT.91648729 DT.100891284 DT.97868396 DT.120633317 DT.95236564 DT.91893522 DT.100891236 DT.120633355 DT.120633509 DT.92353827 DT.100891303 DT.100891296 DT.100891329 DT.120633223 24/2465 AceView cDNA sequences (see all 2465
):AA383710 CR613344 BU178141 AJ346533 BP372691 BX421842 BG742832 AU103803 AA315949 BP381938 BE385303 AW250300 CB118946 BP346052 BI335927 BP364611 BQ016735 BU684181 BM904957 BU172409 CR599117 BQ889991 BX387596 BQ892695
 highest scoring ESTs for XRCC6:AA026057 AA069798 AA070441 AA083394 AA086181 AA090039 AA099019 AA099493 AA100555 AA101578 Unigene Cluster for XRCC6: X-ray repair complementing defective repair in Chinese hamster cells 6 Hs.292493 [show with all ESTs]Unigene Representative Sequence: BC008343
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC6 (see all 6
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 |
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for XRCC6
6 Ensembl transcripts including schematic representations: ENST00000359308
ENST00000402409
ENST00000405506
ENST00000405878
ENST00000402580
ENST00000360079
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Expression
for XRCC6
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| XRCC6 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for XRCC6
1 / 2 / 3 6 probe-sets matching XRCC6 gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GTGATGGTGT
SOURCE GeneReport for Unigene cluster: Hs.292493
Expression variation in blood from EXPOLDB for XRCC6 |
Orthologs
for XRCC6
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for XRCC6 gene from 5/20 species (see all 20
)
About this table Species with no ortholog for XRCC6
ENSEMBL Gene Tree for XRCC6 | Paralogs
for XRCC6(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Pseudogenes
- 3 related pseudogenes
|
SNPs/Variants
for XRCC6(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for XRCC6 (up to first 250kb)
|
Disorders & Mutations
for XRCC6
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 152690
UniProtKB/Swiss-Prot: KU70_HUMAN, P12956
Individuals with systemic lupus erythematosus (SLE) and related disorders produce
extremely large amounts of autoantibodies to p70 and p86. Existence of a major autoantigenic
epitope or epitopes on the C-terminal 190 amino acids of p70 containing the leucine repeat. The
majority of autoantibodies to p70 in most sera from patients with SLE seem to be reactive with
this region10/17 Novoseek disease relationships for XRCC6 gene (see all 17
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| bloom syndrome |
53.34 |
1 |
15184650 (1) |
| ataxia telangiectasia |
47.36 |
3 |
12210072 (3) |
| cancer |
21.07 |
6 |
17982634 (4), 12698192 (1), 15205359 (1) |
| nsclc |
19.97 |
1 |
15273727 (1) |
| tumors |
18.18 |
38 |
12810658 (5), 18546291 (5), 16029807 (4), 15254745 (3) (see all 12) |
| myeloid leukemia |
16.64 |
3 |
12019155 (1), 12702565 (1) |
| colon cancer |
8.83 |
3 |
15205359 (2), 11731412 (1) |
| carcinoma |
8.41 |
4 |
16827151 (3), 11104569 (1) |
| colon carcinoma |
4.79 |
1 |
15827325 (1) |
| shock |
0.00 |
5 |
18378183 (2), 12810658 (1), 8955709 (1) |
About this table
Human Gene Mutation Database: XRCC6
Genetic Association Database: XRCC6
Human Genome Epidemiology Navigator: XRCC6 (18 documents)
|
Medical News
for XRCC6(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for XRCC6 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/284 PubMed articles for XRCC6 gene (see all 284
):- Double-strand break repair by Ku70 requires heterodimerization with Ku80 and DNA binding functions. (PubMed id 9362500)1, 3, 4 Jin S. and Weaver D.T. (1997)
- The three-dimensional structure of the C-terminal DNA-binding domain of human Ku70. (PubMed id 11457852)1, 3, 4 Zhang Z.... Chen Y. (2001)
- 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. (PubMed id 15075319)1, 3, 4 Wang H.... Oettgen P. (2004)
- Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. (PubMed id 12750264)1, 3, 6 Fu Y.P....Shen C.Y. (2003)
- Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 3, 4 Willis D.M.... Towler D.A. (2002)
- DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PubMed id 10026262)1, 3, 4 Chan D.W.... Lees-Miller S.P. (1999)
- Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk. (PubMed id 15958648)3, 6 Lee K.M....Kang D. (2005)
- Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC. (PubMed id 16097034)3, 4 Gevaert K.... Vandekerckhove J. (2005)
- Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)3, 4 Beausoleil S.A....Gygi S.P. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for XRCC6
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing XRCC6
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing XRCC6
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XRCC6(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for XRCC6(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for XRCC6:
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