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Topbp1 topoisomerase (DNA) II binding protein 1 [ Mus musculus (house mouse) ]

Gene ID: 235559, updated on 21-Apr-2024

Summary

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Official Symbol
Topbp1provided by MGI
Official Full Name
topoisomerase (DNA) II binding protein 1provided by MGI
Primary source
MGI:MGI:1920018
See related
Ensembl:ENSMUSG00000032555 AllianceGenome:MGI:1920018
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA0259; 1110031N14Rik; 2810429C13Rik; D430026L04Rik
Summary
Predicted to enable identical protein binding activity. Predicted to be involved in DNA replication initiation; mitotic G2/M transition checkpoint; and response to ionizing radiation. Predicted to act upstream of or within reciprocal meiotic recombination. Located in condensed nuclear chromosome and male germ cell nucleus. Is expressed in embryo and metanephros. Orthologous to human TOPBP1 (DNA topoisomerase II binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 24.0), liver E14 (RPKM 19.9) and 25 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 F1; 9 55.19 cM
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (103182351..103227627)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (103305167..103350428)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53542 Neighboring gene inhibitor of carbonic anhydrase Neighboring gene predicted gene, 31701 Neighboring gene STARR-seq mESC enhancer starr_25089 Neighboring gene STARR-seq mESC enhancer starr_25090 Neighboring gene STARR-positive B cell enhancer ABC_E573 Neighboring gene STARR-seq mESC enhancer starr_25091 Neighboring gene carnitine deficiency-associated gene expressed in ventricle 3 Neighboring gene RIKEN cDNA 5830418P13 gene Neighboring gene STARR-positive B cell enhancer mm9_chr9:103327280-103327581 Neighboring gene STARR-seq mESC enhancer starr_25093 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:103334789-103334972 Neighboring gene beaded filament structural protein 2, phakinin Neighboring gene STARR-positive B cell enhancer ABC_E5098 Neighboring gene STARR-seq mESC enhancer starr_25094

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TopBP1 deficiency impairs the localization of proteins involved in early recombination and results in meiotic chromosome defects during spermatogenesis. Jeon Y, et al. Biochem Biophys Res Commun, 2019 Jan 15. PMID 30528234
  2. DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line. ElInati E, et al. Proc Natl Acad Sci U S A, 2017 Nov 21. PMID 29114052, Free PMC Article
  3. Levels of the E2 interacting protein TopBP1 modulate papillomavirus maintenance stage replication. Kanginakudru S, et al. Virology, 2015 Apr. PMID 25666521, Free PMC Article
  4. SIRT1 deacetylates TopBP1 and modulates intra-S-phase checkpoint and DNA replication origin firing. Wang RH, et al. Int J Biol Sci, 2014. PMID 25516717, Free PMC Article
  5. TopBP1 deficiency impairs V(D)J recombination during lymphocyte development. Kim J, et al. EMBO J, 2014 Feb 3. PMID 24442639, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.
    Title: A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.
  2. Oocytes can repair DNA damage during meiosis via a microtubule-dependent recruitment of CIP2A-MDC1-TOPBP1 complex from spindle pole to chromosomes.
    Title: Oocytes can repair DNA damage during meiosis via a microtubule-dependent recruitment of CIP2A-MDC1-TOPBP1 complex from spindle pole to chromosomes.
  3. TopBP1 deficiency during spermatogenesis impairs the localization of proteins involved in early recombination at DNA double-strand break, results in meiotic chromosome defects and leads to infertility.
    Title: TopBP1 deficiency impairs the localization of proteins involved in early recombination and results in meiotic chromosome defects during spermatogenesis.
  4. DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line.
    Title: DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line.
  5. Consistent with prior reports, TopBP1 co-localized in discrete nuclear foci and was in complex with papillomavirus E2 protein.
    Title: Levels of the E2 interacting protein TopBP1 modulate papillomavirus maintenance stage replication.
  6. The deacetylated form of TopBP1 in SIRT1 mutant cells repressed replication origin firing, while the acetylated form of TopBP1 lost this function.
    Title: SIRT1 deacetylates TopBP1 and modulates intra-S-phase checkpoint and DNA replication origin firing.
  7. Studies identify the SIRT1-TopBP1 axis as a key signaling mode in the regulation of the metabolic checkpoint and the DNA damage checkpoint.
    Title: A divergent role of the SIRT1-TopBP1 axis in regulating metabolic checkpoint and DNA damage checkpoint.
  8. TopBP1 is a crucial factor in V(D)J rearrangement during the development of B, T and iNKT cells.
    Title: TopBP1 deficiency impairs V(D)J recombination during lymphocyte development.
  9. Our data suggest that, unlike the yeast models, the TopBP1-AAD is the major activator of ATR, sustaining cell proliferation and embryonic development
    Title: An essential function for the ATR-activation-domain (AAD) of TopBP1 in mouse development and cellular senescence.
  10. TopBP1 is crucial for maintaining genome integrity in the early progenitors that drive neurogenesis.
    Title: Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_176979.5 → NP_795953.2  DNA topoisomerase 2-binding protein 1

    See identical proteins and their annotated locations for NP_795953.2

    Status: PROVISIONAL

    Source sequence(s)
    AC122747
    Consensus CDS
    CCDS23453.1
    UniProtKB/Swiss-Prot
    Q6P6P0, Q6ZQF0, Q80Y33, Q8BUI0, Q8BUK1, Q8R348, Q91VX3, Q922X8
    Related
    ENSMUSP00000035164.4, ENSMUST00000035164.10
    Conserved Domains (10) summary
    PHA01732
    Location:1202 → 1271
    PHA01732; proline-rich protein
    PRK13108
    Location:1127 → 1248
    PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
    cd17718
    Location:352 → 433
    BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17727
    Location:907 → 981
    BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17728
    Location:1392 → 1470
    BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17731
    Location:198 → 274
    BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17737
    Location:108 → 179
    BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17738
    Location:1263 → 1337
    BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17749
    Location:556 → 639
    BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd18434
    Location:648 → 736
    BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    103182351..103227627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511706.5 → XP_006511769.3  DNA topoisomerase 2-binding protein 1 isoform X1

    Conserved Domains (10) summary
    PHA01732
    Location:1228 → 1297
    PHA01732; proline-rich protein
    cd17718
    Location:427 → 508
    BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17727
    Location:982 → 1052
    BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17728
    Location:1418 → 1496
    BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17731
    Location:273 → 349
    BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17737
    Location:183 → 254
    BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17738
    Location:1289 → 1363
    BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17749
    Location:631 → 714
    BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd18434
    Location:723 → 811
    BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    NF033804
    Location:1159 → 1272
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

  2. XM_006511707.4 → XP_006511770.1  DNA topoisomerase 2-binding protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006511770.1

    UniProtKB/Swiss-Prot
    Q6P6P0, Q6ZQF0, Q80Y33, Q8BUI0, Q8BUK1, Q8R348, Q91VX3, Q922X8
    Conserved Domains (10) summary
    PHA01732
    Location:1202 → 1271
    PHA01732; proline-rich protein
    PRK13108
    Location:1127 → 1248
    PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
    cd17718
    Location:352 → 433
    BRCT_TopBP1_rpt3; third BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17727
    Location:907 → 981
    BRCT_TopBP1_rpt6; sixth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17728
    Location:1392 → 1470
    BRCT_TopBP1_rpt8; eighth (C-terminal) BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17731
    Location:198 → 274
    BRCT_TopBP1_rpt2_like; second BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17737
    Location:108 → 179
    BRCT_TopBP1_rpt1; first BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd17738
    Location:1263 → 1337
    BRCT_TopBP1_rpt7; seventh BRCT domain of DNA topoisomerase 2-binding protein 1
    cd17749
    Location:556 → 639
    BRCT_TopBP1_rpt4; fourth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
    cd18434
    Location:648 → 736
    BRCT_TopBP1_rpt5; fifth BRCT domain of DNA topoisomerase 2-binding protein 1 (TopBP1) and similar proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZQF0.2 GenPept UniProtKB/Swiss-Prot:Q6ZQF0

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