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

Gene ID: 11073, updated on 9-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (133600605..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 
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 
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_001363889.1NP_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_007027.3NP_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)
    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.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    133600605..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_005247076.4XP_005247133.1  DNA topoisomerase 2-binding protein 1 isoform X2

    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 ...
  4. 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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