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    TOPBP1 DNA topoisomerase II binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 11073, updated on 17-Jun-2019

    Summary

    Official Symbol
    TOPBP1provided by HGNC
    Official Full Name
    DNA topoisomerase II binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17008
    See related
    Ensembl:ENSG00000163781 MIM:607760
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Dpb11; TOP2BP1
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 16.9), bone marrow (RPKM 13.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See TOPBP1 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (133600238..133661968, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133319449..133380762, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BFSP2 antisense RNA 1 Neighboring gene MAF1 homolog (S. cerevisiae) pseudogene Neighboring gene CDV3 homolog Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene transferrin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed
    env Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • ATR Signaling, organism-specific biosystem (from WikiPathways)
      ATR Signaling, organism-specific biosystemThis pathway is modeled after Figure 1 in the article " ATR signalling: more than meeting at the fork" (See Bibliography). This pathway details the ATR signaling which commences when there is a gap i...
    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
      BARD1 signaling events
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA replication TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic DNA replication checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed nuclear chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    spindle pole IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA topoisomerase 2-binding protein 1
    Names
    DNA topoisomerase II-beta-binding protein 1
    topoisomerase (DNA) II binding protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363889.2NP_001350818.1  DNA topoisomerase 2-binding protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016255, AC083905
      Consensus CDS
      CCDS87136.1
      Conserved Domains (3) summary
      pfam00533
      Location:350426
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:644715
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    2. NM_007027.4NP_008958.2  DNA topoisomerase 2-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_008958.2

      Status: REVIEWED

      Source sequence(s)
      AC016255, AC083905, BC032633, BC126209, BC151237
      Consensus CDS
      CCDS46919.1
      UniProtKB/Swiss-Prot
      Q92547
      UniProtKB/TrEMBL
      A0AV47, A7E2X7, Q05BV8
      Related
      ENSP00000260810.5, ENST00000260810.9
      Conserved Domains (2) summary
      pfam00533
      Location:105176
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      133600238..133661968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005636.2XP_016861125.1  DNA topoisomerase 2-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q92547
      Conserved Domains (2) summary
      pfam00533
      Location:105176
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain
    2. XM_017005637.2XP_016861126.1  DNA topoisomerase 2-binding protein 1 isoform X4

    3. XM_011512357.3XP_011510659.1  DNA topoisomerase 2-binding protein 1 isoform X3

      Conserved Domains (2) summary
      pfam00533
      Location:105176
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain

    RNA

    1. XR_001739988.2 RNA Sequence

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