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TP53BP1 Gene

protein-coding   GIFtS: 66
GCID: GC15M043699

Tumor Protein P53 Binding Protein 1

(Previous names: tumor protein p53-binding protein, 1)
  Search for TP53BP1
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
Tumor Protein P53 Binding Protein 11 2     p53BP12 3
53BP12 3 5     p2022
Tumor Protein P53-Binding Protein, 11 2     Tumor Protein 53-Binding Protein, 12
P53-Binding Protein 12 3     Tumor Suppressor P53-Binding Protein 12

External Ids:    HGNC: 119991   Entrez Gene: 71582   Ensembl: ENSG000000673697   OMIM: 6052305   UniProtKB: Q128883   

Export aliases for TP53BP1 gene to outside databases

Previous GC identifers: GC15M039066 GC15M036595 GC15M041278 GC15M041415 GC15M041486 GC15M020547


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TP53BP1 Gene:
TP53BP1 (tumor protein p53 binding protein 1) is a protein-coding gene. GO annotations related to this gene include methylated histone residue binding and p53 binding.

UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888
Function: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis.
Enhances TP53-mediated transcriptional activation

Gene Wiki entry for TP53BP1 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 at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TP53BP1 gene promoter:
         GATA-3   MAZR   AP-1   Bach2   ATF-2   Olf-1   Arnt   C/EBPalpha   AREB6   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TP53BP1 promoter sequence
   Search Chromatin IP Primers for TP53BP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TP53BP1


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

Entrez Gene cytogenetic band: 15q15-q21   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15-q21

TP53BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TP53BP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043699:  view genomic region     (about GC identifiers)

Start:
43,699,407 bp from pter      End:
43,802,926 bp from pter
Size:
103,520 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TP53B_HUMAN, Q12888 (See protein sequence)
Recommended Name: Tumor suppressor p53-binding protein 1  
Size: 1972 amino acids; 213574 Da
Subunit: Interacts with IFI202A (By similarity). Binds to the central domain of p53/TP53. May form homooligomers.
Interacts with DCLRE1C. Interacts with histone H2AFX and this requires phosphorylation of H2AFX on 'Ser-139'.
Interacts with histone H4 that has been dimethylated at 'Lys-20' (H4K20me2). Has low affinity for histone H4
containing monomethylated 'Lys-20' (H4K20me1). Does not bind histone H4 containing unmethylated or trimethylated
'Lys-20' (H4K20me3). Has low affinity for histone H3 that has been dimethylated on 'Lys-79'. Has very low
affinity for histone H3 that has been monomethylated on 'Lys-79' (in vitro). Does not bind unmethylated histone
H3. Interacts with MUM1/EXPAND1. Interacts with CHEK2; modulates CHEK2 phosphorylation at 'Thr-68' in response to
infrared. Interacts with MSL1; this interaction may be required for MSL1 DNA repair activity, but not for histone
acetyltransferase activity
Sequence caution: Sequence=BAE06107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for TP53BP1 (see all 9):
1GZH (3D)        1KZY (3D)        1XNI (3D)        2G3R (3D)        2IG0 (3D)        2LVM (3D)    
Secondary accessions: Q2M1Z7 Q4LE46 Q5FWZ3 Q7Z3U4
Alternative splicing: 2 isoforms:  Q12888-1   Q12888-2   

Explore the universe of human proteins at neXtProt for TP53BP1: NX_Q12888

Explore proteomics data for TP53BP1 at MOPED

Post-translational modifications: 

  • Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding1
  • Phosphorylated at basal level in the absence of DNA damage. Hyper-phosphorylated in an ATM-dependent manner in
    response to DNA damage induced by ionizing radiation. Hyper-phosphorylated in an ATR-dependent manner in response
    to DNA damage induced by UV irradiation. Dephosphorylated by PPP5C1
  • Ubiquitination2 at Lys527
  • Modification sites at PhosphoSitePlus

  • See TP53BP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001135451.1  NP_001135452.1  NP_005648.1  

    ENSEMBL proteins: 
     ENSP00000263801   ENSP00000413010   ENSP00000371470   ENSP00000371475   ENSP00000393497  
     ENSP00000416212   ENSP00000392048   ENSP00000398508   ENSP00000471624   ENSP00000388028  
    Reactome Protein details: Q12888

    TP53BP1 Human Recombinant Protein Products:

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    Novus Biologicals TP53BP1 Protein
    Novus Biologicals TP53BP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TP53BP1

     
    Search eBioscience for Proteins for TP53BP1 

    TP53BP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TP53BP1
    R&D Systems Antibodies for TP53BP1 (53BP1)
    Cell Signaling Technology (CST) Antibodies for TP53BP1  (53BP1)
    OriGene Antibodies for TP53BP1
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    Novus Biologicals TP53BP1 Antibodies
    Abcam antibodies for TP53BP1
    Cloud-Clone Corp. Antibodies for TP53BP1
    ThermoFisher Antibody for TP53BP1
    LSBio Antibodies in human, mouse, rat for TP53BP1

    TP53BP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TP53BP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TP53BP1
    Cloud-Clone Corp. CLIAs for TP53BP1
    Search eBioscience for ELISAs for TP53BP1 


    (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:
     IPR015125 53-BP1_Tudor
     IPR014722 Rib_L2_dom2
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q12888

    ProtoNet protein and cluster: Q12888

    1 Blocks protein domain: IPB001357 BRCT domain

    UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888
    Domain: The Tudor-like region mediates binding to H4K20me2
    Similarity: Contains 2 BRCT domains


    Find genes that share domains with TP53BP1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TP53B_HUMAN, Q12888
    Function: Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis.
    Enhances TP53-mediated transcriptional activation

         Genatlas biochemistry entry for TP53BP1:
    TP53 binding protein 1,nuclear and cytoplasmic not binding mutant TP53

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI17805299
    GO:0001104RNA polymerase II transcription cofactor activity IMP17805299
    GO:0002039p53 binding IPI17805299
    GO:0003684damaged DNA binding IEA--
    GO:0005515protein binding IPI11877378
         
    Find genes that share ontologies with TP53BP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TP53BP1:
     Increased resistance to MDM2 i 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Trp53bp1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  reproductive system  tumorigenesis 

    Find genes that share phenotypes with TP53BP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Trp53bp1tm1Jc for TP53BP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TP53BP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TP53BP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TP53BP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TP53BP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TP53BP1:
    hsa-mir-505-3p (MIRT041027), hsa-mir-361-5p (MIRT044109)

    Block miRNA regulation of human, mouse, rat TP53BP1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate TP53BP1:
    hsa-miR-548t hsa-miR-548n hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTP53BP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TP53BP1
    Predesigned siRNA for gene silencing in human, mouse, rat TP53BP1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TP53BP1

    Clone
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    OriGene clones in human, mouse for TP53BP1 (see all 15)
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    GenScript: all cDNA clones in your preferred vector (see all 3): TP53BP1 (NM_005657)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TP53BP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TP53BP1
    Addgene plasmids for TP53BP1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53BP1


    (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
    TP53B_HUMAN, Q12888: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with kinetochores. Both
    nuclear and cytoplasmic in some cells. Recruited to sites of DNA damage, such as double stand breaks. H4K20me2 is
    required for efficient localization to double strand breaks and removal of proteins that have a high affinity for
    H4K20me2 such as L3MBTL1 and KDM4A is needed
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore ----
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0000781colocalizes with chromosome, telomeric region IDA15149599
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with TP53BP1           About GenesLikeMe


    (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 TP53BP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Homologous Recombination Repair
    Homologous Recombination Repair0.70
    Recruitment of repair and signaling proteins to double-strand breaks0.00
    Double-Strand Break Repair0.70
    Homologous recombination repair of replication-independent double-strand breaks0.00
    2Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    3DNA Repair
    DNA Repair0.45
    4DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair


    Find genes that share SuperPaths with TP53BP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TP53BP1
        ATM Pathway

    2 Cell Signaling Technology (CST) Pathways for TP53BP1
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for TP53BP1
        DNA damage Role of Brca1 and Brca2 in DNA repair

    1 Reactome Pathway for TP53BP1
        Recruitment of repair and signaling proteins to double-strand breaks


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TP53BP1: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TP53BP1

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

    Selected Interacting proteins for TP53BP1 (Q128881, 2, 3 ENSP000003714754) via UniProtKB, MINT, STRING, and/or I2D (see all 332)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628051, 2, 3, ENSP000003529804EBI-396540,EBI-302023 MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 STRING: ENSP00000352980
    HIST1H4LP628051, 2, 3, ENSP000003482584EBI-396540,EBI-302023 MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 STRING: ENSP00000348258
    HIST4H4P628051, 2, 3, ENSP000003507674EBI-396540,EBI-302023 MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 STRING: ENSP00000350767
    HIST1H4BP628051, 2, 3EBI-396540,EBI-302023 MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 
    HIST1H4CP628051, 2, 3EBI-396540,EBI-302023 MINT-2829624 MINT-8387675 MINT-2829576 MINT-8387692 MINT-2830357 MINT-2830323 MINT-2829895 MINT-8387708 I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--
    GO:0006366transcription from RNA polymerase II promoter IMP17805299
    GO:0006974cellular response to DNA damage stimulus IDA17500065

    Find genes that share ontologies with TP53BP1           About GenesLikeMe



    (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
    Selected ApexBio Compounds for TP53BP1 (see all 15)     About this table
    CompoundAction CAS #
    AMG232potent and selective piperidinone inhibitor of the MDM2-p53 interaction--
    CP 31398 dihydrochloridep53 stabilizing agent. [1217195-61-3]
    JNJ-26854165 (Serdemetan)p53 activator, blocking Mdm2-p53 interaction[881202-45-5]
    Nutlin-3inhibitor of the MDM2/p53 interaction[890090-75-2]
    Nutlin-3a chiralinhibits the MDM2-p53 interaction and activates p53. [675576-98-4]
    p53 and MDM2 proteins-interaction-inhibitor chiralinhibitor of the interaction between p53 and MDM2 proteins[939981-37-0]
    Pifithrin-miuInhibits p53 binding to mitochondria[64984-31-2]
    PRIMA-1Cell-permeable BAX inhibitor, restore p53 activity[5608-24-2]
    PRIMA-1METCell-permeable BAX inhibitor, restore p53 activity[5291-32-7]
    RG7112Restoration of p53 activity by inhibiting the p53-MDM2 interaction[939981-39-2]

    Browse Tocris compounds for TP53BP1 (TP53B)

    Selected Novoseek inferred chemical compound relationships for TP53BP1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p202 96.9 179 11007452 (10), 8910340 (9), 10074903 (7), 8619867 (7) (see all 25)
    mnda 79.8 1 17981573 (1)
    camptothecin 43.2 9 15856006 (3), 19557000 (1), 20304914 (1), 11331310 (1)
    wortmannin 35.1 2 11331310 (1), 12956959 (1)
    hydroxyurea 33.3 4 11331310 (1), 12824158 (1), 20231360 (1)
    physostigmine 29.4 3 9865494 (1), 17981573 (1), 14757431 (1)
    methylmethanesulfonate 22.6 1 11331310 (1)
    etoposide 16.5 3 19071232 (1), 11331310 (1)
    lysine 2.32 2 18026117 (1), 19203579 (1), 18840612 (1)
    oxygen 0 1 17575156 (1)



    Find genes that share compounds with TP53BP1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TP53BP1 gene (3 alternative transcripts): 
    NM_001141979.1  NM_001141980.1  NM_005657.2  

    Unigene Cluster for TP53BP1:

    Tumor protein p53 binding protein 1
    Hs.440968  [show with all ESTs]
    Unigene Representative Sequence: AF078776
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263801(uc001zrs.3) ENST00000476454(uc001zrp.3) ENST00000411772
    ENST00000382039 ENST00000382044(uc010udp.2 uc001zrq.4 uc001zrr.4)
    ENST00000450115 ENST00000434595 ENST00000434561 ENST00000572085(uc010udq.1)
    ENST00000571145 ENST00000417342 ENST00000467474 ENST00000413546 ENST00000480860
    ENST00000605155 ENST00000414758 ENST00000477089
    miRNA
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    hsa-miR-548t hsa-miR-548n hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTP53BP1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): TP53BP1 (NM_005657)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TP53BP1
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    Addgene plasmids for TP53BP1 
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      QuantiTect SYBR Green Assays in human, mouse, rat TP53BP1
      QuantiFast Probe-based Assays in human, mouse, rat TP53BP1

    Additional mRNA sequence: 

    AB210025.1 AF078776.1 AK123418.1 AK292915.1 AK295764.1 AK307405.1 BC017846.1 BC063119.1 
    BC112161.1 BX537418.1 DQ102772.1 U09477.1 

    17 DOTS entries:

    DT.95301122  DT.40258937  DT.40116929  DT.121049061  DT.97794060  DT.75133574  DT.92439720  DT.75141971 
    DT.75133335  DT.91680834  DT.95360903  DT.97811257  DT.102831478  DT.91814478  DT.95150757  DT.95358247 
    DT.95337473 

    Selected AceView cDNA sequences (see all 287):

    BQ671093 AA334786 AI470815 AI417874 AA613652 BM470337 CA313822 BC017846 
    AA044424 AL699447 BU178902 BM722865 AW372648 BM926929 AW294709 BE926485 
    AW372662 BQ876960 BI468224 BM677886 BE048888 BU684930 BF197778 BM712620 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^
    SP1:                                                                                                              -     -                       -               
    SP2:                                                                                                              -     -                       -               
    SP3:        -     -     -                                                                                         -     -                       -               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34
    SP1:                                                  -                       -                                       
    SP2:                                                  -                       -                                       
    SP3:                                                  -                       -                                       
    SP4:                                                                          -                                       
    SP5:                                                  -                                                               


    ECgene alternative splicing isoforms for TP53BP1

    (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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    TP53BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTTGTAT
    TP53BP1 Expression
    About this image


    TP53BP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    TP53BP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TP53BP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440968
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TP53BP1: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Cellular Senescence in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53BP1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TP53BP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trp53bp11 , 5 transformation related protein 53 binding protein 11, 5 84.77(n)1
    81.55(a)1
      2 (60.37 cM)5
    272231  NM_013735.31  NP_038763.31 
     1211932815 
    chicken
    (Gallus gallus)
    Aves TP53BP11 tumor protein p53 binding protein 1 62.14(n)
    56.35(a)
      415589  XM_004943995.1  XP_004944052.1 
    lizard
    (Anolis carolinensis)
    Reptilia TP53BP16
    tumor protein p53 binding protein 1
    42(a)
    1 ↔ 1
    GL344593.1(3147-26084)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982082 p53-binding protein 1 74.15(n)    AF281071.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI705963.12   -- 71.93(n)   324972  BI705963.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hsr-96
    Protein HSR-9 (hsr-9) mRNA, complete cds
    21(a)
    1 ↔ 1
    I(9626260-9630847) WBGene00002027


    ENSEMBL Gene Tree for TP53BP1 (if available)
    TreeFam Gene Tree for TP53BP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Selected SNPs for TP53BP1 (see all 2147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1382747711,2
    --43698948(+) TTCCAA/GGTGTT 3 -- ds50010--------
    rs1386169331,2
    C--43698973(+) CATGT-/TTATC 
            
    TTATC
    3 -- ds50010--------
    rs1418885901,2
    --43698979(+) TTATCG/TTACGG 3 -- ds50010--------
    rs1918156021,2
    --43699040(+) CTTTCA/GTTCTC 3 -- ds50010--------
    rs1502057571,2
    --43699050(+) CCCTTC/TAGCTC 3 -- ds50010--------
    rs1387038851,2
    --43699059(+) TCTAAC/GAGTTG 3 -- ds50010--------
    rs456262391,2
    C,F--43699265(-) ATTCTG/TTGGCA 3 -- ds50017Minor allele frequency- T:0.05NS WA 310
    rs22420671,2
    C,F,O,A,H--43699303(+) CTTGGC/TCAGCT 3 -- ds500110Minor allele frequency- T:0.32NS WA NA EA 554
    rs22420681,2
    C,F,O,A,H--43699304(+) TTGGCC/GAGCTG 3 -- ds500111Minor allele frequency- G:0.44NS WA NA CSA EA 556
    rs1456012191,2
    C--43699315(+) CCTCC-/GTAA  
            
    GTAAG
    3 -- ds50010--------

    HapMap Linkage Disequilibrium report for TP53BP1 (43699407 - 43802926 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TP53BP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv94676CNV Loss16902084
    nsv518707CNV Loss19592680
    nsv515877CNV Loss19592680
    nsv437799CNV Loss16327808

    Human Gene Mutation Database (HGMD): TP53BP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TP53BP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TP53BP1

    (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: 605230    OMIM disorders: --

    UniProtKB/Swiss-Prot: TP53B_HUMAN, Q12888
  • Note=A chromosomal aberration involving TP53BP1 is found in a form of myeloproliferative disorder chronic
    with eosinophilia. Translocation t(5;15)(q33;q22) with PDGFRB creating a TP53BP1-PDGFRB fusion protein


  • Find genes that share disorders with TP53BP1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TP53BP1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 83.5 22 14695167 (2), 12697768 (1), 15279780 (1), 11801725 (1) (see all 16)
    retinoblastoma 42.3 7 7890747 (2), 9233764 (1), 8524315 (1), 9766636 (1) (see all 6)
    cancer 37.9 18 12447382 (2), 17546051 (2), 15856006 (1), 17143500 (1) (see all 12)
    tumors 29.6 47 17637749 (3), 12884364 (3), 17522062 (3), 10646849 (3) (see all 25)
    chromosomal aberrations 14.7 2 17591918 (1), 18804090 (1)
    ovarian cancer 12.7 4 16517057 (3), 19422301 (1)
    growth retardation 8.66 3 10074903 (1), 12884364 (1), 20231360 (1)
    breast cancer 8.33 14 10646849 (4), 20453858 (2), 14978302 (1), 16314399 (1) (see all 8)
    necrosis 3.07 3 10646849 (3)
    metastasis 2.88 1 11585747 (1)

    Genetic Association Database (GAD): TP53BP1
    Human Genome Epidemiology (HuGE) Navigator: TP53BP1 (21 documents)

    Export disorders for TP53BP1 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 TP53BP1 gene, integrated from 10 sources (see all 319):
    (articles sorted by number of sources associating them with TP53BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Stimulation of p53-mediated transcriptional activation by the p53- binding proteins, 53BP1 and 53BP2. (PubMed id 9748285)1, 2, 3, 9 Iwabuchi K.... Fields S. (J. Biol. Chem. 1998)
    2. Two cellular proteins that bind to wild-type but not mutant p53. (PubMed id 8016121)1, 2, 3, 9 Iwabuchi K.... Fields S. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    3. The GAR motif of 53BP1 is arginine methylated by PRMT1 and is necessary for 53BP1 DNA binding activity. (PubMed id 16294045)1, 2, 9 Boisvert F.-M.... Doherty A.J. (Cell Cycle 2005)
    4. Polymorphic TP53BP1 and TP53 gene interactions associated with risk of squamous cell carcinoma of the head and neck. (PubMed id 17634560)1, 4, 9 Chen K....Wei Q. (Clin. Cancer Res. 2007)
    5. 53BP1 oligomerization is independent of its methylation by PRMT1. (PubMed id 16294047)1, 2, 9 Adams M.M.... Carpenter P.B. (Cell Cycle 2005)
    6. 53BP1, a mediator of the DNA damage checkpoint. (PubMed id 12364621)1, 2, 9 Wang B.... Elledge S.J. (Science 2002)
    7. [Correlation of 53BP1 and p53 polymorphisms to susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma]. (PubMed id 17927872)1, 4, 9 Cao Y.Y....Zhang J.H. (Ai Zheng 2007)
    8. Cigarette smoking, TP53 Arg72Pro, TP53BP1 Asp353Glu and the risk of lung cancer in a Japanese population. (PubMed id 20372852)1, 4, 9 Kiyohara C....Nakanishi Y. (Oncol. Rep. 2010)
    9. p8/nupr1 regulates DNA-repair activity after double-strand gamma irradiation-induced DNA damage. (PubMed id 19650074)1, 2, 9 Gironella M....Iovanna J.L. (J. Cell. Physiol. 2009)
    10. Negative cell cycle regulation and DNA-damage inducible phosphorylation of the BRCT protein 53BP1. (PubMed id 11042216)1, 2, 9 Xia Z.... Carpenter P.B. (J. Biol. Chem. 2001)

    (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: 7158 HGNC: 11999 AceView: TP53BP1 Ensembl:ENSG00000067369 euGenes: HUgn7158
    ECgene: TP53BP1 H-InvDB: TP53BP1

    (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 TP53BP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TP53BP1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tp53bp1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TP53BP1 gene:
    Search GeneIP for patents involving TP53BP1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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