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

    Gene ID: 11073, updated on 17-Sep-2024

    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; AllianceGenome:HGNC:17008
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TOPBP1 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133600238..133661941, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136345391..136407104, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133319082..133380785, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14748 Neighboring gene CDV3 homolog Neighboring gene uncharacterized LOC124909437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20553 Neighboring gene uncharacterized LOC124909487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20554 Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133393453-133393983 Neighboring gene transferrin Neighboring gene inhibitor of carbonic anhydrase pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin-protein adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphorylation-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA replication checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in broken chromosome clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via alternative nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in homologous recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitotic DNA replication checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic G2 DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BRCA1-B complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed nuclear chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      UniProtKB/TrEMBL
      A0A2R8YD63, A0AV47
      Related
      ENSP00000493612.1, ENST00000642236.1
      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
      B7Z7W8, Q7LGC1, Q92547, Q9UEB9
      UniProtKB/TrEMBL
      A0AV47
      Related
      ENSP00000260810.5, ENST00000260810.10
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      133600238..133661941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447355.1XP_047303311.1  DNA topoisomerase 2-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2R8YD63, A0AV47
    2. XM_017005636.3XP_016861125.1  DNA topoisomerase 2-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W8, Q7LGC1, Q92547, Q9UEB9
      UniProtKB/TrEMBL
      A0AV47
      Conserved Domains (2) summary
      pfam00533
      Location:105176
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain
    3. XM_047447358.1XP_047303314.1  DNA topoisomerase 2-binding protein 1 isoform X6

    4. XM_011512357.4XP_011510659.1  DNA topoisomerase 2-binding protein 1 isoform X5

      Conserved Domains (2) summary
      pfam00533
      Location:105176
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:203266
      PTCB-BRCT; twin BRCT domain
    5. XM_047447356.1XP_047303312.1  DNA topoisomerase 2-binding protein 1 isoform X3

    6. XM_047447357.1XP_047303313.1  DNA topoisomerase 2-binding protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      136345391..136407104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345054.1XP_054201029.1  DNA topoisomerase 2-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A7E2X7
    2. XM_054345053.1XP_054201028.1  DNA topoisomerase 2-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      A7E2X7
    3. XM_054345058.1XP_054201033.1  DNA topoisomerase 2-binding protein 1 isoform X6

    4. XM_054345057.1XP_054201032.1  DNA topoisomerase 2-binding protein 1 isoform X5

    5. XM_054345055.1XP_054201030.1  DNA topoisomerase 2-binding protein 1 isoform X3

    6. XM_054345056.1XP_054201031.1  DNA topoisomerase 2-binding protein 1 isoform X4