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Aliases & Descriptions for XRCC4
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Descriptions DNA repair protein XRCC4 2 X-ray repair complementing defective repair in Chinese hamster cells 4 2 X-ray repair cross complementing protein 4 2 X-ray repair cross-complementing protein 4 3 X-ray repair, complementing defective, repair in Chinese hamster 2
Search outside databases for aliases for XRCC4 genePrevious GC identifers: GC05P081191 GC05P082600 GC05P082412 GC05P082457
Summaries for XRCC4 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for XRCC4 : The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependentprotein kinase in the repair of DNA double-strand break by non-homologous end joining and thecompletion of V(D)J recombination events. The non-homologous end-joining pathway is required bothfor normal development and for suppression of tumors. This gene functionally complements XR-1Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced byionizing radiation and restriction enzymes. Alternative transcription initiation and alternativesplicing generates several transcript variants. [provided by RefSeq] UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 Function : Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repairand V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex isresponsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Bindingof the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent proteinkinase complex DNA-PK to these DNA ends
Gene Wiki entry for XRCC4
Genomic Location for XRCC4
(According to
GeneLoc and/or
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the XRCC4 gene Entrez Gene cytogenetic band: 5q13-q14 Ensembl cytogenetic band: 5q14.2 HGNC cytogenetic band: 5q14.2 XRCC4 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 GC05P082409:
(about GC identifiers )
Start:
82,409,073 bp from pter
End:
82,685,335 bp from pter
Size:
276,263 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000005.8 NT_006713.14 Proteins for XRCC4
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
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Abcam ,
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Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
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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 theLIG4-XRCC4 complex associates in a DNA-dependent manner with the DNA-PK complex formed by the Kup70/p86 dimer (G22P1/G22P2) and PRKDC. Seems to interact directly with PRKDC but not with the Kup70/86 dimer. Interacts with XLF/Cernunnos. Interacts with APTX and APLF
Subcellular location : Nucleus
PDB structure from and Proteopedia : 1FU1 (3D)
 1IK9 (3D)
 
Secondary accessions : Q9BS72 Q9UP94Alternative splicing : 3 isoforms : Q13426-1 Q13426-2 Q13426-3
Post-translational modifications:
Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA.Phosphorylation by CK2 promotes interaction with APTX1
Monoubiquitinated1
Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has noeffect on ubiquitination1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_003392.1 NP_071801.1 NP_072044.1 ENSEMBL proteins: ENSP00000282268 ENSP00000379344 ENSP00000342011 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: XRCC4 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for XRCC4: Assays for XRCC4:
Protein
Domains/ Families for XRCC4(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13426 ProtoNet protein and cluster: Q13426
UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 Similarity : Belongs to the XRCC4 family
Gene Function for XRCC4
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_003401 Applied Biosystems Silencer ® siRNAs for XRCC4 Sigma-Aldrich siRNA for XRCC4 Sigma-Aldrich shRNA Panels and shRNA for XRCC4 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_003401                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_003401                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC005259  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022406 UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 Function : Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repairand V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex isresponsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Bindingof the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent proteinkinase 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 DNAdouble-strand break repair by end joining (non homologous recombination) and V(D)J recombination.Also involved in neurogenesis
14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Xrcc4) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for XRCC4
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for XRCC4 5/39 Interacting proteins for XRCC4 (Q13426 1 , 2 ENSP00000342011 3 ) via UniProtKB, MINT, and/or STRING (see all 39
)About this table 5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17
):
GO ID Qualified GO term Evidence PubMed IDs GO:0001701 in utero embryonic development
IEA -- GO:0002328 pro-B cell differentiation
IEA -- GO:0006303 double-strand break repair via nonhomologous end joining
NAS 16439205 GO:0006974 response to DNA damage stimulus
IEA -- GO:0007417 central nervous system development
IEA --
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Drugs & Compounds for XRCC4 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for XRCC4 2 Novoseek chemical compound relationships for XRCC4 gene
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Transcripts for XRCC4(GenBank/EMBL/DDBJ Accessions according to
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(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_003401 Sigma-Aldrich siRNA for XRCC4 Sigma-Aldrich shRNA Panels and shRNA for XRCC4 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_003401 NM_022406 NM_022550
REFSEQ mRNAs for XRCC4 gene (3 alternative transcripts): NM_003401.3 NM_022406.2 NM_022550.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003401 NM_022406 NM_022550
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_003401                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_003401                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC005259  
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
):BM471375 BI760531 AL551668 AL558342 BM564730 CR602998 BX362079 BE781259 CR617390 AA314379 CA394395 AI270686 AI289105 R39148 AI795996 BX279574 AL543920 BX281210 BG204714 BQ226357 BU171074 BC005259 CR599717 CB144620
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 3 Ensembl transcripts including schematic representations : ENST00000282268
ENST00000396027
ENST00000338635
Expression for XRCC4
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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XRCC4 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for XRCC4 1 / 2 / 3
9 probe-sets matching XRCC4 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCTATAATTASOURCE GeneReport for Unigene cluster: Hs.567359 Expression variation in blood from EXPOLDB for XRCC4
UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 Tissue specificity : Widely expressed
Orthologs for XRCC4
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
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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 Paralogs for XRCC4 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for XRCC4 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for XRCC4 (up to first 250kb)
Disorders & Mutations for XRCC4
(in which this Gene is Involved, According to
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OMIM: 194363 4 Novoseek disease relationships for XRCC4 gene
About this table Human Gene Mutation Database : XRCC4 Genetic Association Database: XRCC4 Human Genome Epidemiology Navigator: XRCC4 (32 documents)
Medical News for XRCC4 (Possibly Related Articles in
Doctor's Guide )
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Publications for XRCC4 (in
PubMed .
Associations of this gene to articles via
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3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
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10/161 PubMed articles for XRCC4 gene (see all 161
): Monoubiquitination of the nonhomologous end joining protein XRCC4. (PubMed id 16412978) 1, 3, 4 Foster R.E....Frank K.M. (2006) Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. (PubMed id 9259561) 1, 3, 4 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, 3, 4 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, 3, 4 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, 3, 4 Clements P.M....Caldecott K.W. (2004) Defining interactions between DNA-PK and ligase IV/XRCC4. (PubMed id 12509254) 1, 3, 4 Hsu H.-L.... Chen D.J. (2002) Crystal structure of an Xrcc4-DNA ligase IV complex. (PubMed id 11702069) 1, 3, 4 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, 3, 4 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, 3, 4 Ahnesorg P....Jackson S.P. (2006) Regional localization of the XRCC4 human radiation repair gene. (PubMed id 7665175) 1, 2, 3 Otevrel T. and Stamato T.D. (1995)
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