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TOPBP1 Gene

protein-coding   GIFtS: 65
GCID: GC03M133319

Topoisomerase (DNA) II Binding Protein 1

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
Topoisomerase (DNA) II Binding Protein 11 2     TOP2BP12
DNA Topoisomerase II-Beta-Binding Protein 12 3     DNA Topoisomerase 2-Binding Protein 12
DNA Topoisomerase II-Binding Protein 12 3     TopBP13
KIAA02593 5     

External Ids:    HGNC: 170081   Entrez Gene: 110732   Ensembl: ENSG000001637817   OMIM: 6077605   UniProtKB: Q925473   

Export aliases for TOPBP1 gene to outside databases

Previous GC identifers: GC03M130264 GC03M134064 GC03M134601 GC03M134640 GC03M134802 GC03M130698


(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 TOPBP1 Gene:
This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This
interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta
through transient breakages of DNA strands. (provided by RefSeq, Jul 2008)

GeneCards Summary for TOPBP1 Gene:
TOPBP1 (topoisomerase (DNA) II binding protein 1) is a protein-coding gene. Diseases associated with TOPBP1 include mutagen sensitivity, and hereditary pancreatitis. GO annotations related to this gene include protein C-terminus binding and identical protein binding. An important paralog of this gene is ECT2.

UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547
Function: Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint
control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF
chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits
E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase
activity of ATR

Gene Wiki entry for TOPBP1 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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TOPBP1 gene promoter:
         TBP   p53   HSF1 (long)   FOXL1   GATA-1   NRF-2   TFIID   HFH-1   HSF1short   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOPBP1 promoter sequence
   Search Chromatin IP Primers for TOPBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOPBP1


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

Entrez Gene cytogenetic band: 3q22.1   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q22.1

TOPBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOPBP1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M133319:  view genomic region     (about GC identifiers)

Start:
133,317,019 bp from pter      End:
133,380,737 bp from pter
Size:
63,719 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547 (See protein sequence)
Recommended Name: DNA topoisomerase 2-binding protein 1  
Size: 1522 amino acids; 170679 Da
Subunit: Binds E2F1, PML, RAD9A, RHNO1, SMARCA2, SMARCA4, POLE and UBR5. May interact with TOP2B. Interacts with
TICRR
Sequence caution: Sequence=BAA13389.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA34202.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for TOPBP1 (see all 10):
1WF6 (3D)        2XNH (3D)        2XNK (3D)        3AL2 (3D)        3AL3 (3D)        3JVE (3D)    
Secondary accessions: B7Z7W8 Q7LGC1 Q9UEB9

Explore the universe of human proteins at neXtProt for TOPBP1: NX_Q92547

Explore proteomics data for TOPBP1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine and threonine residues in response to X-ray irradiation1
  • Ubiquitinated and degraded by the proteasome. X-ray irradiation reduces ubiquitination1
  • Ubiquitination2 at Lys224, Lys1421
  • Modification sites at PhosphoSitePlus

  • See TOPBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008958.2  
    ENSEMBL proteins: 
     ENSP00000260810   ENSP00000458790   ENSP00000421179  

    TOPBP1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TOPBP1
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    Novus Biologicals TOPBP1 Protein
    Novus Biologicals TOPBP1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TOPBP1

    TOPBP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TOPBP1
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    Novus Biologicals TOPBP1 Antibodies
    Abcam antibodies for TOPBP1
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    ThermoFisher Antibodies for TOPBP1
    LSBio Antibodies in human, mouse, rat for TOPBP1

    TOPBP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TOPBP1
    Cloud-Clone Corp. CLIAs for TOPBP1


    (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:
     IPR026993 Topbp1
     IPR016126 Secretoglobin
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q92547

    ProtoNet protein and cluster: Q92547

    1 Blocks protein domain: IPB001357 BRCT domain

    UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547
    Similarity: Contains 8 BRCT domains


    TOPBP1 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: TOPB1_HUMAN, Q92547
    Function: Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint
    control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF
    chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits
    E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase
    activity of ATR
    Induction: Up-regulated during the S phase of the cell cycle. Up-regulated by E2F1 and interferon

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI12773567
    GO:0008022protein C-terminus binding TAS9461304
    GO:0042802identical protein binding IPI17006541
         
    TOPBP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TOPBP1:
     Increased G2M DNA content  S arrest  Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Topbp1):
     cellular  embryogenesis  mortality/aging  nervous system  normal 

    TOPBP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Topbp1tm1.2Dsh for TOPBP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOPBP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOPBP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOPBP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOPBP1

    miRNA
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    miRTarBase miRNAs that target TOPBP1:
    hsa-mir-124-3p (MIRT022523), hsa-mir-192-5p (MIRT026324), hsa-mir-215-5p (MIRT024830)

    Block miRNA regulation of human, mouse, rat TOPBP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOPBP1 (see all 12):
    hsa-miR-3934 hsa-miR-3155 hsa-miR-484 hsa-miR-1270 hsa-miR-182 hsa-miR-620 hsa-miR-205* hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidTOPBP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TOPBP1
    Predesigned siRNA for gene silencing in human, mouse, rat TOPBP1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for TOPBP1
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    GenScript: all cDNA clones in your preferred vector: TOPBP1 (NM_007027)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOPBP1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPBP1


    (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
    TOPB1_HUMAN, Q92547: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, spindle pole. Chromosome. Note=Detected on unpaired autosomes in meiotic prophase cells. Detected
    on X and Y chromosomes during later stages of prophase. Colocalizes with ATR and H2AFX at unsynapsed chromosome
    cores during prophase (By similarity). Has a uniform nuclear distribution during G phase. Colocalizes with BRCA1
    at stalled replication forks during S phase. In mitotic cells it colocalizes with BRCA1 at spindle poles and
    centrosomes during metaphase and anaphase. Detected in discrete foci together with PML and numerous DNA repair
    enzymes after DNA damage by alkylating agents, UV or gamma irradiation. Localizes to sites of DNA damage in a
    H2AX- independent manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000794condensed nuclear chromosome IEA--
    GO:0000922spindle pole IEA--
    GO:0001673male germ cell nucleus IEA--
    GO:0005634nucleus IDA--
    GO:0005694chromosome IDA--

    TOPBP1 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 TOPBP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiosis (EMD)
    Meiosis
    2E2F transcription factor network
    E2F transcription factor network
    3BARD1 signaling events
    BARD1 signaling events


    2 BioSystems Pathways for TOPBP1
        E2F transcription factor network
    BARD1 signaling events


        Pathway & Disease-focused RT2 Profiler PCR Array including TOPBP1: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TOPBP1

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

    Selected Interacting proteins for TOPBP1 (Q925471, 2, 3 ENSP000002608104) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010941, 2, 3, ENSP000003455714EBI-308302,EBI-448924 MINT-3379065 MINT-3379085 MINT-19370 MINT-3379112 I2D: score=4 STRING: ENSP00000345571
    ZBTB17Q131051, 2, 3, ENSP000003648954EBI-308302,EBI-372156 MINT-7296657 MINT-7296688 I2D: score=4 STRING: ENSP00000364895
    TOPBP1Q925471, 2EBI-308302,EBI-308302 MINT-3379145 MINT-3379241 MINT-3379273 MINT-3379177 MINT-3379209
    RAD9AQ996382, 3, ENSP000003113604MINT-3379418 I2D: score=4 STRING: ENSP00000311360
    CDC45O754191, 3, ENSP000002632014EBI-308302,EBI-374969 I2D: score=1 STRING: ENSP00000263201
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006259DNA metabolic process TAS9461304
    GO:0006281DNA repair NAS12773567
    GO:0006974cellular response to DNA damage stimulus IDA12773567
    GO:0010212response to ionizing radiation IDA12773567

    TOPBP1 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
    Selected ApexBio Compounds for TOPBP1 (see all 20)     About this table
    CompoundAction CAS #
    4'-Demethylepipodophyllotoxinkey intermediate compound for the preparation of podophyllotoxin-type anti-cancer drugs[6559-91-7]
    AmonafideDNA intercalator and Topo II (topoisomerase II) inhibitor[69408-81-7]
    AmrubicinTopoisomerase II inhibitor, anthracycline agent[110267-81-7]
    Camptothecinprototypic DNA topoisomerase I inhibitor[7689-3-4]
    Deferasirox Fe3+ chelaterationally-designed oral iron chelator[554435-83-5]
    Dexrazoxane HCl (ICRF-187, ADR-529)cardioprotective agent[149003-01-0]
    DoxorubicinDNA topoisomerase I inhibitor[23214-92-8]
    Doxorubicin (Adriamycin) HClAntitumor antibiotic agent, inhibits DNA topoisomerase II[25316-40-9]
    Ellagic acidATP-competitive inhibitor of casein kinase 2 (CK2)[476-66-4]
    Epirubicin HClAntibiotic antitumor agent[56390-09-1]

    Browse Tocris compounds for TOPBP1 (TOPB1)

    1 Novoseek inferred chemical compound relationship for TOPBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 36.6 1 16314514 (1)



    TOPBP1 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 TOPBP1 gene: 
    NM_007027.3  

    Unigene Cluster for TOPBP1:

    Topoisomerase (DNA) II binding protein 1
    Hs.593379  [show with all ESTs]
    Unigene Representative Sequence: NM_007027
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503338 ENST00000503464 ENST00000260810(uc003eps.3) ENST00000505804
    ENST00000513818(uc003ept.1) ENST00000506779 ENST00000511439 ENST00000509162
    ENST00000572787 ENST00000508524
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TOPBP1 (see all 12):
    hsa-miR-3934 hsa-miR-3155 hsa-miR-484 hsa-miR-1270 hsa-miR-182 hsa-miR-620 hsa-miR-205* hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidTOPBP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TOPBP1
    Clone
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    GenScript: all cDNA clones in your preferred vector: TOPBP1 (NM_007027)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TOPBP1
      QuantiTect SYBR Green Assays in human, mouse, rat TOPBP1
      QuantiFast Probe-based Assays in human, mouse, rat TOPBP1

    Additional mRNA sequence: 

    AB019397.1 AK026229.1 AK302584.1 BC017552.1 BC032633.1 BC126209.1 BC151237.1 D87448.1 
    Y18557.1 

    10 DOTS entries:

    DT.453588  DT.120910881  DT.100809817  DT.120910900  DT.100668825  DT.101965602  DT.102825083  DT.85105516 
    DT.95163625  DT.95240451 

    Selected AceView cDNA sequences (see all 233):

    AI243782 AI186277 AI266472 BM980333 BM665950 AA877778 BU682937 AU124582 
    F09486 AL135165 F19044 BU429013 AW338037 AI690370 AU133081 BM681414 
    AA827881 BQ002533 D87448 BM800578 BE350532 BF059530 AA258889 BQ183678 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TOPBP1 (see all 21)    About this scheme

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

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 29 ^ 30 ^ 31
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TOPBP1

    (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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    TOPBP1 expression in normal human tissues (normalized intensities)      TOPBP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TOPBP1 Expression
    About this image


    TOPBP1 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
    TOPBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOPBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593379

    UniProtKB/Swiss-Prot: TOPB1_HUMAN, Q92547
    Tissue specificity: Highly expressed in heart, brain, placenta, lung and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including TOPBP1: 
              DNA Damage Signaling Pathway in human mouse rat

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    (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 TOPBP1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Topbp11 , 5 topoisomerase (DNA) II binding protein 11, 5 80.97(n)1
    77.35(a)1
      9 (55.19 cM)5
    2355591  NM_176979.51  NP_795953.21 
     1033053275 
    chicken
    (Gallus gallus)
    Aves TOPBP11 topoisomerase (DNA) II binding protein 1 71.6(n)
    68.37(a)
      420694  XM_418794.4  XP_418794.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    63(a)
    56(a)
    1 ↔ many
    1 ↔ many
    GL343224.1(2267032-2292182)
    GL344507.1(38789-56281)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY253323.12   -- 75.5(n)    AY253323.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ481264.12   -- 77.12(n)    BQ481264.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus1013 mitosis 25(a)   1 12B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea mus-1016
    Protein MUS-101 (mus-101) mRNA, complete cds
    16(a)
    1 ↔ 1
    I(10479301-10484969) WBGene00009507


    ENSEMBL Gene Tree for TOPBP1 (if available)
    TreeFam Gene Tree for TOPBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOPBP1 gene
    ECT22  
    1 SIMAP similar gene for TOPBP1 using alignment to 6 protein entries:     TOPB1_HUMAN (see all proteins):
    ECT2

    TOPBP1 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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    Selected SNPs for TOPBP1 (see all 1307)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1482321341,2
    --133318971(+) GTTTCA/GCCATG 1 -- ds50010--------
    rs1401889351,2
    --133318981(+) GTTGTC/TCAGGC 1 -- ds50010--------
    rs1504968601,2
    C--133318999(+) GAACTC/TCTGGG 1 -- ds50010--------
    rs1844598711,2
    --133319159(+) TCACCA/GCAACC 1 -- ds50010--------
    rs796292321,2
    C,F--133319174(+) CCTCCC/TGGGTT 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1422703241,2
    --133319205(+) GCCTCC/GTGAGT 1 -- ds50010--------
    rs1885107941,2
    C--133319217(+) GCTGGC/GATTAC 1 -- ds50010--------
    rs1463839871,2
    C--133319310(+) ACTCCC/TGACCT 1 -- ds50010--------
    rs746375121,2
    C,F--133319326(+) GATCCG/CCCTGC 1 -- ds50011Minor allele frequency- C:0.50NA 2
    rs1813562251,2
    --133319369(+) CGAGCC/TACCGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TOPBP1 (133317019 - 133380737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TOPBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725942CNV Deletion23290073
    esv2677101CNV Deletion23128226

    Human Gene Mutation Database (HGMD): TOPBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOPBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TOPBP1

    (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.)
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    OMIM gene information: 607760    OMIM disorders: --

    16 diseases for TOPBP1:    About MalaCards
    mutagen sensitivity    hereditary pancreatitis    richter's syndrome    ataxia telangiectasia
    ataxia    breast cancer    retinoblastoma    pancreatitis
    pancreatic cancer    tonsillitis    ovarian cancer    hiv-1
    thyroiditis    cerebritis    prostatitis    endotheliitis


    TOPBP1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for TOPBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 51 2 11756551 (1), 17446169 (1)
    breast cancer 6.03 3 17448016 (2), 19289498 (1)
    breast carcinoma 2.77 4 17448016 (2), 16996262 (1)
    tumors 0 7 19289498 (3), 10498869 (1), 18314357 (1)
    cancer 0 5 19289498 (2), 16930991 (2)

    Genetic Association Database (GAD): TOPBP1
    Human Genome Epidemiology (HuGE) Navigator: TOPBP1 (8 documents)

    Export disorders for TOPBP1 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 TOPBP1 gene, integrated from 10 sources (see all 145):
    (articles sorted by number of sources associating them with TOPBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A DNA topoisomerase II binding protein with eight repeating regions similar to DNA repair enzymes and to a cell cycle regulator. (PubMed id 9461304)1, 2, 3, 9 Yamane K.... Tsuruo T. (Eur. J. Biochem. 1997)
    2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    3. PML colocalizes with and stabilizes the DNA damage response protein TopBP1. (PubMed id 12773567)1, 2, 9 Xu Z.-X.... Chang K.-S. (Mol. Cell. Biol. 2003)
    4. Regulation of E2F1 by BRCT domain-containing protein TopBP1. (PubMed id 12697828)1, 2, 9 Liu K.... Lin W.-C. (Mol. Cell. Biol. 2003)
    5. TopBP1 activates the ATR-ATRIP complex. (PubMed id 16530042)1, 2, 9 Kumagai A.... Dunphy W.G. (Cell 2006)
    6. Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. (PubMed id 11714696)1, 2, 9 Honda Y.... Nakao M. (J. Biol. Chem. 2002)
    7. TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis. (PubMed id 15138768)1, 2, 9 Reini K.... Syvaeoja J.E. (Chromosoma 2004)
    8. TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. (PubMed id 15075294)1, 2, 9 Liu K.... Lin W.-C. (Genes Dev. 2004)
    9. BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. (PubMed id 11395493)1, 2, 9 Maekiniemi M.... Syvaeoja J.E. (J. Biol. Chem. 2001)
    10. Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. (PubMed id 16930991)1, 4, 9 Karppinen S.M....Winqvist R. (Eur. J. Cancer 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: 11073 HGNC: 17008 AceView: TOPBP1 Ensembl:ENSG00000163781 euGenes: HUgn11073
    ECgene: TOPBP1 H-InvDB: TOPBP1

    (According to HUGE)
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    HUGE: KIAA0259

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TOPBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TOPBP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOPBP1 gene:
    Search GeneIP for patents involving TOPBP1

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



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