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XRCC5 Gene

protein-coding   GIFtS: 67
GCID: GC02P216972

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

(Previous names: X-ray repair complementing defective repair in Chinese hamster...)
Microbiology & Infectious Diseases Congress
  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 5
(Double-Strand-Break Rejoining)1 2 3
     Ku Autoantigen1
Lupus Ku Autoantigen Protein P862 3     X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5
(Double-Strand-Break Rejoining; Ku Autoantigen, 80kD)1
Nuclear Factor IV2 3     KARP-12
Thyroid-Lupus Autoantigen2 3     KARP12
86 KDa Subunit Of Ku Antigen2 3     KU802
CTC852 3     KUB22
CTCBF2 3     NFIV2
Ku862 3     Ku Autoantigen, 80kDa2
TLAA2 3     Ku86 Autoantigen Related Protein 12
ATP-Dependent DNA Helicase 2 Subunit 22 3     X-Ray Repair Cross-Complementing Protein 52
ATP-Dependent DNA Helicase II 80 KDa Subunit2 3     EC 3.6.4.-3
CTC Box-Binding Factor 85 KDa Subunit2 3     G22P23
DNA Repair Protein XRCC52 3     Ku803
80kDa1     

External Ids:    HGNC: 128331   Entrez Gene: 75202   Ensembl: ENSG000000792467   OMIM: 1943645   UniProtKB: P130103   

Export aliases for XRCC5 gene to outside databases

Previous GC identifers: GC02P215135 GC02P215696 GC02P216938 GC02P217174 GC02P217152 GC02P216797 GC02P216680 GC02P208831


(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 XRCC5 Gene:
The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as
ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent
protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand
break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally
complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo
V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of
varying radiosensitivity. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC5 Gene:
XRCC5 (X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)) is a protein-coding gene. Diseases associated with XRCC5 include dna ligase iv deficiency, and tinea capitis. GO annotations related to this gene include transcription regulatory region DNA binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: XRCC5_HUMAN, P13010
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. In
association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression.
The XRCC5/6 dimer 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. XRCC5 probably
acts as the catalytic subunit of 5'-dRP activity, and 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 XRCC5 (Ku80) 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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XRCC5 gene promoter:
         Sp1   p53   p300   CUTL1   LCR-F1   C/EBPalpha   MEF-2A   PPAR-alpha   Nkx6-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): XRCC5 promoter sequence
   Search Chromatin IP Primers for XRCC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XRCC5


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

XRCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P216972:  view genomic region     (about GC identifiers)

Start:
216,972,187 bp from pter      End:
217,071,026 bp from pter
Size:
98,840 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: XRCC5_HUMAN, P13010 (See protein sequence)
Recommended Name: X-ray repair cross-complementing protein 5  
Size: 732 amino acids; 82705 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 NAA15, and this complex displays DNA binding activity towards the osteocalcin FGF response
element (OCFRE). In addition, the 80 kDa subunit binds to the osteoblast-specific transcription factors MSX2 and
RUNX2. Interacts with ELF3. May interact with APLF. The XRCC5/6 dimer associates in a DNA-dependent manner with
APEX1. Identified in a complex with DEAF1 and XRCC6
Developmental stage: Expression increases during promyelocyte differentiation
Miscellaneous: Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large
amounts of autoantibodies to XRCC6 and XRCC5
5 PDB 3D structures from and Proteopedia for XRCC5:
1JEQ (3D)        1JEY (3D)        1Q2Z (3D)        1RW2 (3D)        3RZ9 (3D)    
Secondary accessions: A8K3X5 Q0Z7V0 Q4VBQ5 Q53HH7 Q7M4N0 Q9UCQ0 Q9UCQ1

Explore the universe of human proteins at neXtProt for XRCC5: NX_P13010

Explore proteomics data for XRCC5 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues. Phosphorylation by PRKDC may enhance helicase activity1
  • Sumoylated1
  • Ubiquitinated by RNF8 via 'Lys-48'-linked ubiquitination following DNA damage, leading to its degradation and
    removal from DNA damage sites1
  • Ubiquitination2 at Lys36, Lys144, Lys195, Lys202, Lys265, Lys282, Lys307, Lys325, Lys332, Lys338,
                                 Lys347, Lys363, Lys439, Lys443, Lys481, Lys532, Lys534, Lys543, Lys648, Lys660
  • Modification sites at PhosphoSitePlus

  • See XRCC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066964.1  
    ENSEMBL proteins: 
     ENSP00000375978   ENSP00000401318   ENSP00000395108   ENSP00000375977  
    Reactome Protein details: P13010

    XRCC5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for XRCC5
    OriGene Custom MassSpec
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    Novus Biologicals XRCC5 Proteins
    Novus Biologicals XRCC5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XRCC5

    XRCC5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of XRCC5
    R&D Systems Antibodies for XRCC5 (Ku80/XRCC5)
    Cell Signaling Technology (CST) Antibodies for XRCC5  (Ku80)
    OriGene Antibodies for XRCC5
    OriGene Custom Antibody Services for XRCC5
    Novus Biologicals XRCC5 Antibodies
    Abcam antibodies for XRCC5 (P12956, P13010)
    Cloud-Clone Corp. Antibodies for XRCC5
    ThermoFisher Antibody for XRCC5
    LSBio Antibodies in human, mouse, rat for XRCC5

    XRCC5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for XRCC5
    Cloud-Clone Corp. CLIAs for XRCC5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR005160 Ku_C
     IPR014893 Ku_PK_bind
     IPR005161 Ku_N
     IPR024193 Ku80
     IPR016194 SPOC_like_C_dom

    Graphical View of Domain Structure for InterPro Entry P13010

    ProtoNet protein and cluster: P13010

    1 Blocks protein domain: IPB005160 Ku70/Ku80 C-terminal arm

    UniProtKB/Swiss-Prot: XRCC5_HUMAN, P13010
    Domain: The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to
    sites of DNA damage
    Similarity: Belongs to the ku80 family
    Similarity: Contains 1 Ku domain


    XRCC5 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: XRCC5_HUMAN, P13010
    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. In
    association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression.
    The XRCC5/6 dimer 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. XRCC5 probably
    acts as the catalytic subunit of 5'-dRP activity, and 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
    Induction: In osteoblasts, by FGF2

         Genatlas biochemistry entry for XRCC5:
    repair X-ray defect,complementing defect in CHO cells,5,involved in double-strand DNA break rejoining

         Enzyme Number (IUBMB): EC 3.6.4.-1

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS1537839
    GO:0003684damaged DNA binding IEA--
    GO:0003690double-stranded DNA binding TAS7957065
    GO:0003691contributes to double-stranded telomeric DNA binding IDA10409678
    GO:0004003ATP-dependent DNA helicase activity IEA--
         
    XRCC5 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Xrcc5):
     behavior/neurological  cellular  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  reproductive system 
     respiratory system  tumorigenesis  vision/eye 

    XRCC5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for XRCC5: Xrcc5tm1Nus Xrcc5tm1Dbr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XRCC5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XRCC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XRCC5

    miRNA
    Products:
        
    miRTarBase miRNAs that target XRCC5:
    hsa-mir-484 (MIRT042031), hsa-mir-100-5p (MIRT048471), hsa-mir-331-3p (MIRT043483), hsa-mir-26b-5p (MIRT050041), hsa-mir-7-5p (MIRT047762)

    Block miRNA regulation of human, mouse, rat XRCC5 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate XRCC5:
    hsa-miR-525-5p hsa-miR-532-5p hsa-miR-330-3p hsa-miR-3919 hsa-miR-380 hsa-miR-520a-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidXRCC5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat XRCC5

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: XRCC5 (NM_021141)
    Sino Biological Human cDNA Clone for XRCC5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XRCC5

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC5


    (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
    XRCC5_HUMAN, P13010: Nucleus. Nucleus, nucleolus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000783nuclear telomere cap complex TAS15100233
    GO:0000784nuclear chromosome, telomeric region IDA10535943
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    XRCC5 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 XRCC5 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.37
    Non-homologous end joining0.00
    DNA damage NHEJ mechanisms of DSBs repair0.37
    2HIV Life Cycle
    HIV Life Cycle0.91
    Integration of provirus0.00
    HIV Infection0.62
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.00
    3Homologous Recombination Repair
    Double-Strand Break Repair0.70
    Nonhomologous End-joining (NHEJ)0.00
    Processing of DNA ends prior to end rejoining0.00
    4Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    IRF3-mediated induction of type I IFN0.00
    STING mediated induction of host immune responses0.00
    5Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for XRCC5
        DNA Repair Mechanisms
    Telomere Extension by Telomerase

    3 Cell Signaling Technology (CST) Pathways for XRCC5
        Cell Cycle / Checkpoint Control
    Lymphocyte Signaling
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for XRCC5
        DNA damage NHEJ mechanisms of DSBs repair

    4 BioSystems Pathways for XRCC5
        Non-homologous end joining
    BARD1 signaling events
    Regulation of Telomerase
    Coregulation of Androgen receptor activity


    5 Reactome Pathways for XRCC5
        Cytosolic sensors of pathogen-associated DNA
    Nonhomologous End-joining (NHEJ)
    Processing of DNA ends prior to end rejoining
    2-LTR circle formation
    IRF3-mediated induction of type I IFN


    1 Kegg Pathway  (Kegg details for XRCC5):
        Non-homologous end-joining


    XRCC5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XRCC5: 
              p53 Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XRCC5

    Selected Interacting proteins for XRCC5 (P130101, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 190)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APLFQ8IW191, 2, 3EBI-357997,EBI-1256044 MINT-4790250 MINT-8412713 MINT-8412880 MINT-8412604 MINT-4790303 MINT-8412899 MINT-8412645 MINT-8412784 MINT-4790124 MINT-8412808 MINT-8412838 MINT-8412861 I2D: score=2 
    XRCC6P129561, 2, 3EBI-357997,EBI-353208 MINT-8089673 MINT-8412713 MINT-8052786 MINT-8089739 MINT-8412784 MINT-4790124 MINT-8089790 MINT-25010 MINT-8412808 MINT-4051838 MINT-4051792 I2D: score=6 
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS15824061
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--
    GO:0006303double-strand break repair via nonhomologous end joining TAS15824061
    GO:0006310DNA recombination IEA--

    XRCC5 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)
    About This Section

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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 XRCC5

    Selected Novoseek inferred chemical compound relationships for XRCC5 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-350 83.3 3 8538653 (2), 7724535 (1)
    bleomycin 46.5 4 12384553 (3), 11086072 (1)
    threonine 44.2 2 11376007 (1), 14556663 (1)
    serine 38 3 11376007 (1), 14556663 (1), 10026262 (1)
    cisplatin 31.6 9 18415044 (3), 19372586 (2), 12384553 (1), 16230379 (1) (see all 6)
    mitomycin c 20.1 1 11086072 (1)
    camptothecin 14.6 3 16230379 (2), 17596214 (1)
    etoposide 13.9 5 12384553 (3), 16230379 (1), 17596214 (1)
    melphalan 11.4 1 10717383 (1)
    okadaic acid 9.78 3 15941674 (2), 11376007 (1)



    XRCC5 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,
    Conferences by KenesGroup, 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 XRCC5 gene: 
    NM_021141.3  

    Unigene Cluster for XRCC5:

    X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
    Hs.388739  [show with all ESTs]
    Unigene Representative Sequence: BX647578
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392133(uc002vfy.3 uc002vfz.3) ENST00000429133 ENST00000476360
    ENST00000417391 ENST00000451695 ENST00000460284 ENST00000493706 ENST00000471649
    ENST00000485763 ENST00000392132
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate XRCC5:
    hsa-miR-525-5p hsa-miR-532-5p hsa-miR-330-3p hsa-miR-3919 hsa-miR-380 hsa-miR-520a-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidXRCC5 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat XRCC5

    Additional mRNA sequence: 

    AK023296.1 AK026166.1 AK096408.1 AK222603.1 AK290740.1 BC019027.2 BC095442.1 BX647578.1 
    J04977.1 M30938.1 X57500.1 

    Selected DOTS entries (see all 54):

    DT.95145993  DT.97800488  DT.95171313  DT.100691454  DT.100691471  DT.100869880  DT.100691449  DT.95171318 
    DT.100691468  DT.92466638  DT.100691456  DT.95171296  DT.453635  DT.100691470  DT.40225001  DT.92466637 
    DT.121019322  DT.92466647  DT.95171297  DT.95171305  DT.92466640  DT.92466665  DT.95171314  DT.97793901 

    Selected AceView cDNA sequences (see all 1155):

    BQ213485 CB164531 BM682534 BM451883 BQ221552 BQ218029 BE890000 CB137578 
    AI753711 AA581871 BM785661 BP365393 BM684612 F08076 BQ212100 CB118207 
    BU177113 BM837550 CA406248 F04314 R24558 AU077291 BU735970 BM677650 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for XRCC5 (see all 8)    About this scheme

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

    ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for XRCC5

    (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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    XRCC5 expression in normal human tissues (normalized intensities)      XRCC5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACATTAAA
    XRCC5 Expression
    About this image


    XRCC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) 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
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Thymus (Hematopoietic System)
             Thymus
    XRCC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XRCC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.388739
        Pathway & Disease-focused RT2 Profiler PCR Arrays including XRCC5: 
              p53 Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for XRCC5
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    QuantiFast Probe-based Assays in human, mouse, rat XRCC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC5

    (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 eukaryotes.

    Orthologs for XRCC5 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc51 , 5 X-ray repair complementing defective repair in Chinese more1, 5 83.81(n)1
    78.52(a)1
      1 (36.50 cM)5
    225961  NM_009533.21  NP_033559.21 
     723074215 
    chicken
    (Gallus gallus)
    Aves XRCC51 X-ray repair complementing defective repair in Chinese more 69.84(n)
    66.76(a)
      424222  XM_422072.4  XP_422072.4 
    lizard
    (Anolis carolinensis)
    Reptilia XRCC56
    X-ray repair complementing defective repair in Chi...
    67(a)
    1 ↔ 1
    GL343344.1(956755-1024818)
    African clawed frog
    (Xenopus laevis)
    Amphibia xrcc5-A-prov2 X-ray repair complementing defective repair in Chinese more 72.43(n)    AB020609.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.102812 Transcribed sequence with weak similarity to protein more 75.74(n)    CK026935.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ku806
    Ku80
    20(a)
    1 ↔ 1
    2L(15768630-15771159)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KU801 KU80 45.29(n)
    28.65(a)
      841223  NM_103701.1  NP_564520.1 


    ENSEMBL Gene Tree for XRCC5 (if available)
    TreeFam Gene Tree for XRCC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for XRCC5 (see all 2259)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1138369011,2
    C--208836492(+) TCAAT-/TGTTTAC 1 -- int11Minor allele frequency- TG:0.00CSA 2
    rs2000554101,2
    C--208836493(+) CAATTG/TTTTAC 1 -- int10--------
    rs38360381,2
    C--208836852(-) CACAA-/CAATTCCC 1 -- int10--------
    rs2004693671,2
    C--208836856(+) ATTGTG/TGTGTT 1 -- int10--------
    rs2013045031,2
    --208836857(+) TTGTT-/GTGTTGTT 1 -- int10--------
    rs412997501,2
    C,F--208842058(+) GTTGT-/TTGT  
            
    TGTTT
    1 -- int15Minor allele frequency- TTGT:0.18NS 170
    rs1117795281,2
    C--208842061(+) GGTTG-/T/TTGT
            
    GTTGT
    1 -- int11CSA 2
    rs124709151,2
    C,F,H--208857688(+) AAAAAG/AAAAAG 1 -- int1 trp32Minor allele frequency- A:0.50NA 4
    rs610674701,2
    C--208857693(+) AAAAAAGAAAA/-
            
    GAAAT
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs412963881,2
    F--208858809(+) TATCATAA/-GAATC 2 -- int1 cds15Minor allele frequency- -:0.03NS 184

    HapMap Linkage Disequilibrium report for XRCC5 (216972187 - 217071026 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for XRCC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721455CNV Deletion23290073
    nsv3159CNV Loss18451855
    nsv460096CNV Loss19166990

    Human Gene Mutation Database (HGMD): XRCC5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XRCC5
    DNA2.0 Custom Variant and Variant Library Synthesis for XRCC5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 194364    OMIM disorders: --

    Selected diseases for XRCC5 (see all 56):    About MalaCards
    dna ligase iv deficiency    tinea capitis    t lymphocyte deficiency    werner syndrome
    thyroiditis    ataxia telangiectasia    polymyositis    cervical cancer
    malignant glioma    stomach cancer    esophagitis    human t-cell leukemia virus type 1
    was-related disorders    papilloma    lung cancer susceptibility    scleroderma
    ataxia    cervicitis    duodenitis    oral cancer

    1 disease from the University of Copenhagen DISEASES database for XRCC5:
    Tinea capitis

    XRCC5 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for XRCC5 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 56.2 4 9636207 (3)
    werner syndrome 45.1 1 19372586 (1)
    chromosomal aberrations 40.4 4 12460917 (3), 15492246 (1)
    myeloid leukemia 25.7 2 12019155 (1), 12702565 (1)
    colon carcinoma 23.3 3 11152960 (2), 15208076 (1)
    tumors 19.6 38 15254745 (3), 12902903 (3), 18546291 (3), 12216085 (2) (see all 15)
    cancer 19.5 11 17982634 (4), 15492246 (1), 15827325 (1), 12460917 (1) (see all 8)
    nsclc 15.1 3 17289874 (2)
    colon cancer 11.8 2 11731412 (1), 11792868 (1)
    carcinoma squamous cell 10.9 2 14556663 (1), 17289874 (1)

    Genetic Association Database (GAD): XRCC5
    Human Genome Epidemiology (HuGE) Navigator: XRCC5 (42 documents)

    Export disorders for XRCC5 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)
    About This Section

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    PubMed articles for XRCC5 gene, integrated from 10 sources (see all 461):
    (articles sorted by number of sources associating them with XRCC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KARP-1: a novel leucine zipper protein expressed from the Ku86 autoantigen locus is implicated in the control of DNA-dependent protein kinase activity. (PubMed id 9214634)1, 3, 9 Myung K.... Hendrickson E.A. (EMBO J. 1997)
    2. KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. (PubMed id 9636207)1, 3, 9 Myung K.... Hendrickson E.A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen. (PubMed id 7882982)1, 2, 9 Genersch E....Poeschl E. (EMBO J. 1995)
    4. 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, 2, 9 Wang H.... Oettgen P. (J. Biol. Chem. 2004)
    5. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. (PubMed id 15758953)1, 2, 9 Falck J.... Jackson S.P. (Nature 2005)
    6. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. (PubMed id 12750264)1, 4, 9 Fu Y.P....Shen C.Y. (Cancer Res. 2003)
    7. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 2, 9 Willis D.M.... Towler D.A. (J. Biol. Chem. 2002)
    8. DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PubMed id 10026262)1, 2, 9 Chan D.W.... Lees-Miller S.P. (Biochemistry 1999)
    9. The E3 ligase RNF8 regulates KU80 removal and NHEJ repair. (PubMed id 22266820)1, 2 Feng L. and Chen J. (Nat. Struct. Mol. Biol. 2012)
    10. Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia. (PubMed id 20232390)1, 4 Shi J.Y....Chen S.J. (Int. J. Cancer 2011)

    (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)
    About This Section

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    Entrez Gene: 7520 HGNC: 12833 AceView: XRCC5 Ensembl:ENSG00000079246 euGenes: HUgn7520
    ECgene: XRCC5 Kegg: 7520 H-InvDB: XRCC5

    (According to HUGE)
    About This Section

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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 XRCC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XRCC5 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS SNPshttp://egp.gs.washington.edu/data/xrcc5/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for XRCC5 gene:
    Search GeneIP for patents involving XRCC5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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