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XRCC1 Gene

protein-coding   GIFtS: 67
GCID: GC19M044047

X-Ray Repair Complementing Defective Repair In Chinese Hamster...


(Previous symbol: RCC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells
11 2
RCC1 2
X-Ray Repair Cross-Complementing Protein 12 3
DNA Repair Protein XRCC12

External Ids:    HGNC: 128281   Entrez Gene: 75152   Ensembl: ENSG000000730507   OMIM: 1943605   UniProtKB: P188873   

Export aliases for XRCC1 gene to outside databases

Previous GC identifers: GC19M044692 GC19M044439 GC19M048723 GC19M048739 GC19M040478


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for XRCC1 Gene:
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by
exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta
and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA
processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is
associated with cancer in patients of varying radiosensitivity. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC1 Gene:
XRCC1 (X-ray repair complementing defective repair in Chinese hamster cells 1) is a protein-coding gene. Diseases associated with XRCC1 include cardia cancer, and gastric cardia carcinoma. GO annotations related to this gene include damaged DNA binding. An important paralog of this gene is LOC100133315.

UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887
Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with
ionizing radiation and alkylating agents

Gene Wiki entry for XRCC1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the XRCC1 gene promoter:
         STAT1   STAT1beta   CUTL1   LCR-F1   AP-2gamma   NF-kappaB   COMP1   c-Myb   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): XRCC1 promoter sequence
   Search Chromatin IP Primers for XRCC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XRCC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.31   HGNC cytogenetic band: 19q13.2

XRCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M044047:  view genomic region     (about GC identifiers)

Start:
44,047,192 bp from pter      End:
44,084,625 bp from pter
Size:
37,434 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887 (See protein sequence)
Recommended Name: DNA repair protein XRCC1  
Size: 633 amino acids; 69477 Da
Subunit: Homodimer. Interacts with polynucleotide kinase (PNK), DNA polymerase-beta (POLB) and DNA ligase III
(LIG3). Interacts with APTX and APLF. Interacts with APEX1; the interaction is induced by SIRT1 and increases
with the acetylated form of APEX1
Selected PDB 3D structures from and Proteopedia for XRCC1 (see all 8):
1CDZ (3D)        1XNA (3D)        1XNT (3D)        2D8M (3D)        2W3O (3D)        3K75 (3D)    
Secondary accessions: Q6IBS4 Q9HCB1

Explore the universe of human proteins at neXtProt for XRCC1: NX_P18887

Explore proteomics data for XRCC1 at MOPED

Post-translational modifications: 

  • Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and
    APLF1
  • Sumoylated1
  • Glycosylation2 at Thr296, Thr440, Ser446, Ser447, Thr453
  • Modification sites at PhosphoSitePlus

  • See XRCC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006288.2  
    ENSEMBL proteins: 
     ENSP00000262887   ENSP00000443671   ENSP00000470391   ENSP00000470045   ENSP00000472128  
     ENSP00000471159  
    Reactome Protein details: P18887

    XRCC1 Human Recombinant Protein Products:

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    OriGene MassSpec for XRCC1
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    GenScript Custom Purified and Recombinant Proteins Services for XRCC1
    Novus Biologicals XRCC1 Proteins
    Novus Biologicals XRCC1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XRCC1

    XRCC1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals XRCC1 Antibodies
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    ThermoFisher Antibody for XRCC1
    LSBio Antibodies in human, mouse, rat for XRCC1

    XRCC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for XRCC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XRCC1
    Cloud-Clone Corp. CLIAs for XRCC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008979 Galactose-bd-like
     IPR002706 Xrcc1_N
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry P18887

    ProtoNet protein and cluster: P18887

    2 Blocks protein domains:
    IPB001357 BRCT domain
    IPB002706 DNA-repair protein Xrcc1


    UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887
    Similarity: Contains 2 BRCT domains


    XRCC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XRCC1_HUMAN, P18887
    Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with
    ionizing radiation and alkylating agents

         Genatlas biochemistry entry for XRCC1:
    repair X-ray defect,complementing defect in CHO cells,1,involved in single-strand DNA break
    rejoining,susceptibility gene for squamous cell carcinoma of the head and neck

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding IEA--
    GO:0005515protein binding IPI14755728
         
    XRCC1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for XRCC1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Xrcc1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  normal  tumorigenesis 

    XRCC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Xrcc1tm1Rpe for XRCC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XRCC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XRCC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XRCC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target XRCC1:
    hsa-mir-92b-3p (MIRT040679), hsa-mir-186-5p (MIRT045144), hsa-mir-193b-3p (MIRT041371), hsa-mir-34a-5p (MIRT025546)

    Block miRNA regulation of human, mouse, rat XRCC1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate XRCC1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for XRCC1
    Predesigned siRNA for gene silencing in human, mouse, rat XRCC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XRCC1

    Clone
    Products:
         
    OriGene clones in human, mouse for XRCC1 (see all 7)
    OriGene ORF clones in mouse, rat for XRCC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: XRCC1 (NM_006297)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XRCC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XRCC1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for XRCC1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XRCC1_HUMAN, P18887: Nucleus. Note=Accumulates at sites of DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    XRCC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for XRCC1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Resolution of AP sites via the single-nucleotide replacement pathway0.00
    Base excision repair0.53
    Base Excision Repair0.00
    2Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    3DNA Repair
    DNA Repair0.45
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5Meiosis (EMD)
    Meiosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for XRCC1
        DNA Repair Mechanisms

    2 Cell Signaling Technology (CST) Pathways for XRCC1
        Cell Cycle / Checkpoint Control
    DNA Damage

    2 BioSystems Pathways for XRCC1
        E2F transcription factor network
    FOXM1 transcription factor network

    1 Reactome Pathway for XRCC1
        Resolution of AP sites via the single-nucleotide replacement pathway


    1 Kegg Pathway  (Kegg details for XRCC1):
        Base excision repair


    XRCC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XRCC1: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XRCC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for XRCC1 (P188871, 2, 3 ENSP000002628874) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APTXQ7Z2E31, 2, 3, ENSP000004008064EBI-947466,EBI-847814 MINT-2864208 MINT-51181 MINT-51153 MINT-51140 MINT-51142 MINT-51182 MINT-51154 MINT-51139 MINT-2864189 MINT-51230 I2D: score=5 STRING: ENSP00000400806
    CHEK2O960171, 2, 3, ENSP000003720234EBI-947466,EBI-1180783 MINT-7295039 MINT-7294980 MINT-7294997 MINT-7294787 MINT-7295015 MINT-7295027 MINT-7294756 MINT-7294958 I2D: score=1 STRING: ENSP00000372023
    POLIQ9UNA41, 2, 3, ENSP000002178004EBI-947466,EBI-741774 MINT-7296097 MINT-7296110 I2D: score=1 STRING: ENSP00000217800
    CCNOP226742, 3, ENSP000002825724MINT-7294905 MINT-7294888 I2D: score=1 STRING: ENSP00000282572
    H2AFXP161042, 3, ENSP000003643104MINT-7543857 I2D: score=1 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IEA--
    GO:0001666response to hypoxia IEA--
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006974cellular response to DNA damage stimulus ----

    XRCC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XRCC1

    Selected Novoseek inferred chemical compound relationships for XRCC1 gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 65.7 12 11163244 (3), 19910369 (2), 17650498 (1), 17353262 (1) (see all 8)
    8-oxoguanine 63.6 8 18349297 (1), 12933815 (1), 15927541 (1), 18393249 (1) (see all 7)
    lead chromate 59.8 8 16714390 (3), 16597656 (3)
    vinylchloride 57.1 21 12739102 (4), 12010862 (3), 16881598 (2), 17555083 (2) (see all 7)
    methylmethanesulfonate 51.9 10 15867196 (2), 17603793 (1), 15781218 (1), 11909950 (1) (see all 6)
    mspi 51.1 5 18364571 (1), 19176223 (1), 17418242 (1), 14639127 (1)
    methoxyamine 47.3 1 11585361 (1)
    oxaliplatin 44.2 6 17273745 (2), 15213713 (1), 17009149 (1), 11712813 (1)
    adpribose 41.4 9 14500814 (5), 16963444 (2), 11016934 (1), 12198176 (1)
    gsts 36.4 1 11708327 (1)

    7 PharmGKB related drug/compound annotations for XRCC1 gene    About this table
    Drug/compound PharmGKB Annotation
    Platinum compoundsCA  
    carboplatinCA  
    cisplatinCA  
    cyclophosphamideCA  
    fluorouracilCA  
    oxaliplatinCA  
    platinumCA  



    XRCC1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for XRCC1 gene: 
    NM_006297.2  

    Unigene Cluster for XRCC1:

    X-ray repair complementing defective repair in Chinese hamster cells 1
    Hs.98493  [show with all ESTs]
    Unigene Representative Sequence: NM_006297
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262887(uc002owt.2 uc010xwp.1) ENST00000543982 ENST00000597811
    ENST00000595789 ENST00000598422 ENST00000598165 ENST00000599693 ENST00000594107
    ENST00000594511
    miRNA
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    GenScript: all cDNA clones in your preferred vector: XRCC1 (NM_006297)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat XRCC1
      QuantiFast Probe-based Assays in human, mouse, rat XRCC1

    Additional mRNA sequence: 

    AB208781.1 AK293542.1 AK300163.1 AK315332.1 BC023593.2 CR456728.1 

    13 DOTS entries:

    DT.452311  DT.91761768  DT.100773970  DT.100027795  DT.100782706  DT.100782718  DT.100782719  DT.87016286 
    DT.100637811  DT.95107355  DT.121484346  DT.87016288  DT.91724728 

    374 AceView cDNA sequences (see top 24):

    CR591751 F13079 F06425 AA722476 BQ057273 AI125175 BM831688 AW002217 
    AI168181 AW613956 BQ882089 BX091022 AA426207 BQ896139 F08201 BE252183 
    BM831569 CR614880 BM928576 CR617745 AI206971 F05480 AA402560 BX452522 
    BM698936 CR610347 AK128554 AL520680 BQ720645 BQ643143 CA395701 BU178401 
    BI913668 BF940405 AF322648 BM451621 AK096168 AK124786 AL526899 AI983314 
    BQ058190 BQ056064 AI424752 BI768932 AL134428 BM802866 BE044126 BQ068180 
    BQ682697 CR600609 BQ066716 BM711287 BG258140 BX101802 AL528118 BQ878215 
    AW297105 BM019314 BM043420 CB153490 BM849257 AW631329 BG764254 AL580954 
    NM_006297 BG325655 BV208283 CD622363 AI039227 BF688185 BQ652368 BX325387 
    AI214165 BE299016 N59249 F10716 BU527958 BI913993 BQ002385 BF795030 
    BX366348 AW173751 CO247422 AA425139 AL598002 AL707741 BG621120 BC023593 
    BE301018 BE780481 BF035646 BE791819 AL534306 BM980431 BG709140 BG028401 
    AA113299 BQ436134 BE387180 AW410924 F01597 AL577645 BF508835 BM023615 
    AI459765 BU160860 BE293659 BQ877723 BE736470 BE389250 F10673 BG748990 
    BV208284 F04444 BM543345 CF994132 BF724998 AW051389 AL520679 BE383904 
    BG770557 BU187285 AI669678 BG281062 BG479300 AL556053 AL555038 BG481165 
    AI056688 BQ959466 BG762959 BE298151 AI203380 BQ881310 AU124213 M36089 
    BF951066 BE299711 BX093841 BQ424930 AL526684 CF593480 CK823505 BM856477 
    BE618329 AL547639 T32956 AL560022 BV205824 CA420630 BU685203 CR456728 
    BG819850 AW247899 F13115 BP349667 BG744224 CD622362 BX383390 BQ938075 
    F07563 BG761957 BG289510 BM669723 BE276435 AL583065 AI283188 BU184348 
    BM666294 BG478877 BU556707 AL528119 BI761830 F01744 BU632697 AW009176 
    BU541691 AW003091 BG774033 BP363611 AI346570 BM454587 AL526542 AK022583 
    BM541733 BM477137 CA430106 BU684146 BM462488 CK004620 BQ069361 BX383391 
    BM967281 BU737928 BQ878949 BE327217 AL560785 AA349193 BE249944 BX508606 
    BE256387 BG118472 BF025990 AW292095 AL526653 AI868114 AL578409 AA994829 
    AA349353 AA402729 BP365218 BI226240 CK000354 BE780644 CB854463 BU689330 
    BU857817 CB110122 CA311869 BX508599 AI285095 AL559313 AI216276 AA349352 
    BF679689 AA584134 CA449907 AL526864 CA446319 F02712 AA490445 BF951070 
    BM848435 AA019436 BE270004 BG338344 CK823504 BF448007 T28129 AA451806 
    BU680742 BI669313 N39482 Z33592 AI560215 BG993359 BF674291 AL583064 
    BI489659 AW410194 BE563578 BI838000 AL572514 BX354160 AA477259 BF341763 
    BI768398 AL581537 AI311568 F05337 H14079 AA033907 BI824115 AI199502 
    BQ436530 BU678420 BU171101 AL529993 BE737262 AW003066 BF341630 BF306241 
    AI695330 AW953108 BX325386 AW410925 BX344681 BE267157 AW402221 BF337160 
    BG767167 BF183146 AA576581 BF950995 AL554050 R11743 BF929852 AA701213 
    BI767180 AA775746 T47307 BF950994 AW249266 AW403010 BE141051 N76717 
    AL526493 AW793634 AA481953 R16258 N83203 BF950075 BF830566 R12884 
    AL582182 BG000652 BF882144 AL563609 BF950993 BQ219597 AW081677 BE243235 
    CD557261 AW362514 AA112520 AW410195 R16257 R38269 AA226283 CF139621 
    T77018 BX366347 AV681741 BI913355 BF964062 AW248845 BI004187 BX440357 
    AA034007 BF950076 Z23144 AA477907 R54726 H06073 T47308 BG289417 
    H14141 AW904439 Z19661 R41383 BG685888 AW365295 BE252633 R41276 
    BI050737 BG744960 BM011608 BE062524 AA082650 AL576882 BE829271 T75410 
    BF870304 M77975 BE264560 BQ307634 BF592844 R58679 BX403002 BX463351 
    AW968832 BG988697 H05783 AA907251 T26646 BE936667 T15739 AA291506 
    BE170104 BQ327260 BQ327292 BF689911 T26647 BM453060 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for XRCC1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                -                       -                                                                                                   
    SP2:                                -                       -                                                                                                   
    SP3:                                                                                                                                                            
    SP4:                                -                       -                                                                                                   
    SP5:                                                        -                 -     -     -                                                                     


    ECgene alternative splicing isoforms for XRCC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    XRCC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGGCCAG
    XRCC1 Expression
    About this image


    XRCC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    XRCC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XRCC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98493
        Pathway & Disease-focused RT2 Profiler PCR Arrays including XRCC1: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat XRCC1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for XRCC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc11 , 5 X-ray repair complementing defective repair in Chinese more1, 5 84.79(n)1
    86.49(a)1
      7 (11.42 cM)5
    225941  NM_009532.41  NP_033558.31 
     245471505 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    54(a)
    1 → many
    LGf(1127269-1140959)
    African clawed frog
    (Xenopus laevis)
    Amphibia xrcc1-prov2 x-ray repair cross-complementing group 1 protein 76.58(n)    BC045032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xrcc11 X-ray repair complementing defective repair in Chinese more 57.71(n)
    54.26(a)
      445480  NM_001003988.1  NP_001003988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta XRCC13 nucleotide-excision repair 40(a)   4F5   --


    ENSEMBL Gene Tree for XRCC1 (if available)
    TreeFam Gene Tree for XRCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XRCC1 gene
    LOC1001333152  ENSG000002683612  

    XRCC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    XRCC1_HUMAN, P18887: Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA
    damage


    Selected SNPs for XRCC1 (see all 898)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362774
    A colorectal cancer sample4--see VAR_0362772 R W mis40--------
    rs455921421,2
    C--40478190(+) TGTGT-/GTGTGT
    GTGTGTGT
    ATAGC
    1 -- cds10--------
    rs126097701,2
    C,H--44047004(+) CAATCA/GCCTCA 1 -- ds50012Minor allele frequency- G:0.00NA 4
    rs1847934601,2
    --44047027(+) ATGTGG/TTGGAG 1 -- ds50010--------
    rs1895263581,2
    --44047218(+) AGCCTA/CATGGG 1 -- ds50010--------
    rs1415786561,2
    --44047231(+) CCAGG-/CCCTCC 1 -- ds50010--------
    rs32134011,2
    C,F--44047312(-) GAACTGGGA    
       ATC
    /-
    TGACC
    1 -- ds50011Minor allele frequency- -:0.14NS 178
    rs1425717171,2
    C--44047314(+) TCAGA-/TT    
       CCCAG
    TTCCC
    1 -- ds50010--------
    rs26825581,2
    C,F--44047316(-) ACTGGG/AAATCT 1 -- ds50014Minor allele frequency- A:0.10NS WA NA 178
    rs1473053871,2
    --44047364(+) CAGAAA/GAGACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for XRCC1 (44047192 - 44084625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for XRCC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912107CNV Loss21882294

    Human Gene Mutation Database (HGMD): XRCC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XRCC1
    DNA2.0 Custom Variant and Variant Library Synthesis for XRCC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 194360    OMIM disorders: --

    Selected diseases for XRCC1 (see all 135):    
    About MalaCards
    cardia cancer    gastric cardia carcinoma    oral leukoplakia    xeroderma pigmentosum, group d
    mutagen sensitivity    triple-a syndrome    pre-b-cell acute lymphoblastic leukemia    barrett's adenocarcinoma
    squamous cell carcinoma of the head and neck    microtia    alcoholic liver cirrhosis    acoustic neuroma
    barrett esophagus/esophageal adenocarcinoma    xeroderma pigmentosum    neuroma    cervical intraepithelial neoplasia
    leukoplakia    lynch syndrome    pterygium    lung cancer susceptibility

    6 diseases from the University of Copenhagen DISEASES database for XRCC1:
    Xeroderma pigmentosum     Lung cancer     Breast cancer     Carcinoma
    Urinary bladder cancer     Colorectal cancer

    XRCC1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for XRCC1 gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 73.7 28 11016934 (1), 17593927 (1), 19109787 (1), 19657998 (1) (see all 26)
    cancer 60.3 79 16172217 (6), 15896924 (4), 16550161 (4), 16137195 (3) (see all 48)
    cancer lung 58.1 77 18999926 (4), 17417947 (4), 19481337 (4), 12618330 (3) (see all 34)
    nsclc 50.5 31 19958624 (3), 19683826 (2), 15534883 (2), 16157195 (2) (see all 13)
    bladder cancer 46.2 30 18272472 (5), 18336890 (3), 20514470 (2), 12223443 (2) (see all 15)
    neck cancer 44.8 7 19846968 (2), 11867203 (1), 18833034 (1), 19643719 (1)
    carcinoma squamous cell 44.7 19 17614107 (2), 19444915 (2), 19230024 (2), 1574572 (1) (see all 15)
    breast cancer 44.6 106 16457697 (6), 15666192 (5), 18481169 (5), 15734955 (4) (see all 42)
    genetic susceptibility 43.6 5 15666192 (1), 15252855 (1), 17385092 (1), 19673050 (1) (see all 5)
    colorectal cancer 43.3 30 18806752 (4), 15800946 (3), 20033188 (3), 17009149 (3) (see all 13)

    Genetic Association Database (GAD): XRCC1
    Human Genome Epidemiology (HuGE) Navigator: XRCC1 (589 documents)

    Export disorders for XRCC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for XRCC1 gene, integrated from 10 sources (see all 1000):
    (articles sorted by number of sources associating them with XRCC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. (PubMed id 11782372)1, 2, 4, 9 Nelson H.H.... Karagas M.R. (Cancer Res. 2002)
    2. Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange. (PubMed id 2247054)1, 2, 3 Thompson L.H.... Carrano A.V. (Mol. Cell. Biol. 1990)
    3. Increased risk of oral leukoplakia and cancer among mixed tobacco users carrying XRCC1 variant haplotypes and cancer among smokers carrying two risk genotypes: one on each of two loci, GSTM3 and XRCC1 (Codon 280). (PubMed id 16172217)1, 4, 9 Majumder M....Roy B. (amp 2005)
    4. A population-based study of the Arg399Gln polymorphism in X-ray repair cross- complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. (PubMed id 12183419)1, 4, 9 Duell E.J....Kelsey K.T. (Cancer Res. 2002)
    5. Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma. (PubMed id 19230024)1, 4, 9 Applebaum K.M....Kelsey K.T. (Int. J. Cancer 2009)
    6. XRCC1 and XRCC3 polymorphisms and their role as effect modifiers of unsaturated fatty acids and antioxidant intake on colorectal adenomas risk. (PubMed id 15767338)1, 4, 9 Stern M.C....Haile R.W. (amp 2005)
    7. The association of XRCC1 gene single nucleotide polymorphisms with response to neoadjuvant chemotherapy in locally advanced cervical carcinoma. (PubMed id 19563645)1, 4, 9 Cheng X.D....Xie X. (amp 2009)
    8. DNA repair gene hOGG1 codon 326 and XRCC1 codon 399 polymorphisms and bladder cancer risk in a Japanese population. (PubMed id 18272472)1, 4, 9 Arizono K....Kuroda Y. (Jpn. J. Clin. Oncol. 2008)
    9. XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage. (PubMed id 16397295)1, 2, 9 Levy N....Menissier-de Murcia J. (Nucleic Acids Res. 2006)
    10. XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking. (PubMed id 16510609)1, 4, 9 Pachkowski B.F....Nakamura J. (Cancer Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7515 HGNC: 12828 AceView: XRCC1 Ensembl:ENSG00000073050 euGenes: HUgn7515
    ECgene: XRCC1 Kegg: 7515 H-InvDB: XRCC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for XRCC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XRCC1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xrcc1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for XRCC1 gene:
    Search GeneIP for patents involving XRCC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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