Aliases &
Descriptions
for XRCC4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| X-ray repair complementing defective repair in Chinese hamster cells 41 2 | | X-ray repair cross-complementing protein 42 3 | | OTTHUMP000002223612 | | X-ray repair, complementing defective, repair in Chinese hamster2 | | DNA repair protein XRCC42 | | OTTHUMP000002223602 |
Export aliases for XRCC4 gene to outside databasesPrevious GC identifers: GC05P081191 GC05P082600 GC05P082412 GC05P082457 GC05P082409 |
Summaries
for XRCC4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for XRCC4:
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in therepair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. Thenon-homologous end-joining pathway is required both for normal development and for suppression of tumors. This genefunctionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaksproduced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicinggenerates several transcript variants. (provided by RefSeq)
UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426Function: Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)Jrecombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligationstep, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent onthe assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends
Gene Wiki entry for XRCC4 |
Genomic Views
for XRCC4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the XRCC4 gene promoter:
p53 RORalpha2 c-Myc Max1 IRF-7A GATA-1 STAT3 MEF-2A FOXL1 IRF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for XRCC4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q14.2 Ensembl cytogenetic band: 5q14.2 HGNC cytogenetic band: 5q14.2XRCC4 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 5 GeneLoc Exon Structure GeneLoc location for GC05P077581: view genomic region
(about GC identifiers)
Start:
|
77,581,701 bp from pter |
End:
|
77,857,876 bp from pter |
Size:
|
276,176 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr5+ 82,373,317-82,649,606 |
RefSeq DNA sequence:- NC_000005.9 NT_006713.15
|
Proteins
for XRCC4 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 (See
protein sequence)Recommended Name: DNA repair protein XRCC4 Size: 336 amino acids; 38287 Da
Subunit: Homodimer and homotetramer in solution. The homodimer associates with LIG4, and the LIG4-XRCC4 complexassociates in a DNA-dependent manner with the DNA-PK complex formed by the Ku p70/p86 dimer (XRCC6/XRCC5) and PRKDC.Seems to interact directly with PRKDC but not with the Ku p70/86 dimer. Interacts with XLF/Cernunnos. Interacts withAPTX and APLF
Subcellular location: Nucleus
PDB structures from  and Proteopedia  :1FU1 (3D)
1IK9 (3D)
3II6 (3D)
3MUD (3D)
Secondary accessions: A8K3X4 Q9BS72 Q9UP94Alternative splicing: 3 isoforms: Q13426-1 Q13426-2 Q13426-3 Explore the universe of human proteins at neXtProt for XRCC4: NX_Q13426
Post-translational modifications:
Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2promotes interaction with APTX1
Monoubiquitinated1
Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect onubiquitination1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (3 alternative transcripts):
NP_003392.1 NP_071801.1 NP_072044.1
ENSEMBL proteins: ENSP00000379344 ENSP00000342011 ENSP00000422367 ENSP00000421491 ENSP00000282268
Human Recombinant Proteins
5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7): About this table
XRCC4 for ontologies About GeneDecksing
Antibodies for XRCC4:
Assays for XRCC4: |
Protein
Domains/
Families
for XRCC4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
XRCC4 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13426ProtoNet protein and cluster: Q13426 UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426Similarity: Belongs to the XRCC4 family |
Gene Function
for XRCC4 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426Function: Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)Jrecombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligationstep, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent onthe assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends
Genatlas biochemistry entry for XRCC4:repair X-ray defect,complementing defect in CHO cells,4 with CAG repeat,involved in DNA double-strand break repair byend joining (non homologous recombination) and V(D)J recombination. Also involved in neurogenesis4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
XRCC4 for ontologies About GeneDecksing
Animal Models: 14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Xrcc4):
XRCC4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for XRCC4 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
XRCC4 for pathways About GeneDecksing
1  Millipore Pathway for XRCC4
1  Kegg Pathway (Kegg details for XRCC4):
SABiosciences Pathway-Focused PCR Array including XRCC4: PAHS-042A
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XRCC4
5/14 Interacting proteins for XRCC4 (Q134261, 2 ENSP000003420113) via UniProtKB, MINT, and/or STRING (see all 14)About this table
5/23 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 23): About this table
XRCC4 for ontologies About GeneDecksing
|
Drugs & Compounds
for XRCC4 gene(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
|
XRCC4 for compounds About GeneDecksing
 Browse Tocris compounds for XRCC4
3  Novoseek chemical compound relationships for XRCC4 gene
About this table
|
Transcripts
for XRCC4 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for XRCC4 gene (3 alternative transcripts): NM_003401.3 NM_022406.2 NM_022550.2 Additional cDNA sequence: AB017445.1 AK290739.1 BC005259.1 BC010655.1 BC016314.1 BT007216.1 CR599717.1 CR602998.1 CR617390.1 U40622.1 16 DOTS entries: DT.95269018 DT.40220026 DT.312131 DT.92436833 DT.120875805 DT.100819225 DT.120875672 DT.100819221 DT.100819224 DT.101986016 DT.100819223 DT.120875671 DT.40109549 DT.92436831 DT.92436832 DT.95269017 24/128 AceView cDNA sequences (see all 128): BI760531 BE781259 CA394395 BX281210 AI270686 AI289105 BC005259 BU171074 BX362079 AL543920 BG204714 CR602998 BX279574 AA314379 AI795996 CB144620 BM564730 CR599717 BM471375 AL551668 AL558342 CR617390 BQ226357 R39148
 highest scoring ESTs for XRCC4:U40622 AA065267 AA731889 AA909333 AB017445 AI168769 AI270686 AI289105 AI795996 AI922388 Unigene Cluster for XRCC4: X-ray repair complementing defective repair in Chinese hamster cells 4 Hs.567359 [show with all ESTs]Unigene Representative Sequence: NM_022550
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC4
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for XRCC4
6 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000396027 ENST00000514538 ENST00000338635 ENST00000509268(uc003kif.1)
ENST00000511817(uc003kig.2) ENST00000282268(uc003kia.1 uc003kib.2 uc003kid.2 uc003kic.2 uc003kie.2)
|
Expression
for XRCC4 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| XRCC4 expression in normal and diseased human tissues
1 / 2 / 3 9 probe-sets matching XRCC4 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 1360_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
1.00 |
1.00 |
U40622 |
1.00 |
1.00 |
1.00 |
1 |
| 205071_x_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AB017445 |
0.80 |
1.00 |
0.91 |
1 |
| 210813_s_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
BC005259 |
0.60 |
1.00 |
0.82 |
1 |
| 205072_s_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_022406 |
0.60 |
1.00 |
0.82 |
1 |
| 210812_at2, 3
|
U133-A |
1 |
0.55 |
1.00 |
-- |
-- |
BC005259 |
0.60 |
1.00 |
0.82 |
1 |
| 205071_x_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 210813_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 205072_s_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 210812_at2
|
U133Plus2 |
1 |
0.55 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
XRCC4 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: CCTATAATTA
SOURCE GeneReport for Unigene cluster: Hs.567359
Expression variation in blood from EXPOLDB for XRCC4 UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426Tissue specificity: Widely expressed
SABiosciences Expression via Pathway-Focused PCR Array including XRCC4: PAHS-042A
|
Orthologs
for XRCC4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for XRCC4 gene from 5/8 species (see all 8)
About this table Species with no ortholog for XRCC4
ENSEMBL Gene Tree for XRCC4 (if available) |
Paralogs
for XRCC4 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for XRCC4 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 5 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for XRCC4 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for XRCC4
2 CNVs: 53729 51746
3 Indels: 43040 40777 62396 | | QIAGEN SeqTarget long-range PCR primers for resequencing XRCC4 |
|
Disorders & Mutations
for XRCC4 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
XRCC4 for disorders About GeneDecksing
OMIM: 194363
5 Novoseek disease relationships for XRCC4 gene
About this table
Human Gene Mutation Database (HGMD): XRCC4
Genetic Association Database (GAD): XRCC4
Human Genome Epidemiology (HuGE) Navigator: XRCC4 (55 documents)
Export disorders and mutations for XRCC4 gene to outside databases
|
Medical News
for XRCC4 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for XRCC4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/195 PubMed articles for XRCC4 gene, integrated from 7 sources (see all 195):
(articles sorted by number of sources associating them with XRCC4)- Monoubiquitination of the nonhomologous end joining protein XRCC4. (PubMed id 16412978)1, 2, 7 Foster R.E.... Frank K.M. (2006)
- Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. (PubMed id 9259561)1, 2, 7 Critchlow S.E.... Jackson S.P. (1997)
- Tetramerization and DNA ligase IV interaction of the DNA double- strand break repair protein XRCC4 are mutually exclusive. (PubMed id 14607114)1, 2, 7 Modesti M.... Kanaar R. (2003)
- Identification of DNA-PKcs phosphorylation sites in XRCC4 and effects of mutations at these sites on DNA end joining in a cell-free system. (PubMed id 15177042)1, 2, 7 Lee K.J.... Dynan W.S. (2004)
- The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. (PubMed id 15380105)1, 2, 7 Clements P.M....Caldecott K.W. (2004)
- Defining interactions between DNA-PK and ligase IV/XRCC4. (PubMed id 12509254)1, 2, 7 Hsu H.-L.... Chen D.J. (2002)
- Crystal structure of an Xrcc4-DNA ligase IV complex. (PubMed id 11702069)1, 2, 7 Sibanda B.L.... Pellegrini L. (2001)
- The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. (PubMed id 8548796)1, 2, 7 Li Z.... Alt F.W. (1995)
- XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. (PubMed id 16439205)1, 2, 7 Ahnesorg P....Jackson S.P. (2006)
- Regional localization of the XRCC4 human radiation repair gene. (PubMed id 7665175)1, 3, 7 Otevrel T. and Stamato T.D. (1995)
|
External Searches for XRCC4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing XRCC4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing XRCC4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XRCC4 gene(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
| Patent Information for XRCC4 gene:
Search GeneIP for patents involving XRCC4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for XRCC4 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
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| | |
 |  |  |  | |
| |  | Search Tocris compounds for XRCC4 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for XRCC4 |
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