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Aliases for TOPBP1 Gene

Aliases for TOPBP1 Gene

  • Topoisomerase (DNA) II Binding Protein 1 2 3
  • DNA Topoisomerase II-Beta-Binding Protein 1 3 4
  • DNA Topoisomerase II-Binding Protein 1 3 4
  • KIAA0259 4 6
  • DNA Topoisomerase 2-Binding Protein 1 3
  • TOP2BP1 3
  • TopBP1 4

External Ids for TOPBP1 Gene

Previous GeneCards Identifiers for TOPBP1 Gene

  • GC03M130264
  • GC03M134064
  • GC03M134601
  • GC03M134640
  • GC03M134802
  • GC03M133319
  • GC03M130698

Summaries for TOPBP1 Gene

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 ataxia-telangiectasia and hereditary breast cancer. Among its related pathways are BARD1 signaling events and E2F transcription factor network. GO annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is ECT2.

UniProtKB/Swiss-Prot for TOPBP1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOPBP1 Gene

Genomics for TOPBP1 Gene

Regulatory Elements for TOPBP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOPBP1 Gene

Start:
133,598,175 bp from pter
End:
133,661,918 bp from pter
Size:
63,744 bases
Orientation:
Minus strand

Genomic View for TOPBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOPBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOPBP1 Gene

Proteins for TOPBP1 Gene

  • Protein details for TOPBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92547-TOPB1_HUMAN
    Recommended name:
    DNA topoisomerase 2-binding protein 1
    Protein Accession:
    Q92547
    Secondary Accessions:
    • B7Z7W8
    • Q7LGC1
    • Q9UEB9

    Protein attributes for TOPBP1 Gene

    Size:
    1522 amino acids
    Molecular mass:
    170679 Da
    Quaternary structure:
    • Binds E2F1, PML, RAD9A, RHNO1, SMARCA2, SMARCA4, POLE and UBR5. May interact with TOP2B. Interacts with TICRR.
    SequenceCaution:
    • Sequence=BAA13389.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA34202.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TOPBP1 Gene

neXtProt entry for TOPBP1 Gene

Proteomics data for TOPBP1 Gene at MOPED

Post-translational modifications for TOPBP1 Gene

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

Other Protein References for TOPBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TOPBP1 (TOPBP1)

No data available for DME Specific Peptides for TOPBP1 Gene

Domains for TOPBP1 Gene

Protein Domains for TOPBP1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92547

UniProtKB/Swiss-Prot:

TOPB1_HUMAN :
  • Q92547
Domain:
  • Contains 8 BRCT domains.
genes like me logo Genes that share domains with TOPBP1: view

No data available for Gene Families for TOPBP1 Gene

Function for TOPBP1 Gene

Molecular function for TOPBP1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated during the S phase of the cell cycle. Up-regulated by E2F1 and interferon.

Gene Ontology (GO) - Molecular Function for TOPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 12773567
GO:0008022 protein C-terminus binding TAS 9461304
GO:0042802 identical protein binding IPI 17006541
genes like me logo Genes that share ontologies with TOPBP1: view
genes like me logo Genes that share phenotypes with TOPBP1: view

Animal Models for TOPBP1 Gene

MGI Knock Outs for TOPBP1:

Animal Model Products

miRNA for TOPBP1 Gene

miRTarBase miRNAs that target TOPBP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TOPBP1 Gene

Localization for TOPBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOPBP1 Gene

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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TOPBP1 Gene COMPARTMENTS Subcellular localization image for TOPBP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IEA --
GO:0000922 spindle pole IEA --
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IDA --
GO:0005694 chromosome IDA 21659603
genes like me logo Genes that share ontologies with TOPBP1: view

Pathways for TOPBP1 Gene

genes like me logo Genes that share pathways with TOPBP1: view

Pathways by source for TOPBP1 Gene

2 BioSystems pathways for TOPBP1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TOPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process TAS 9461304
GO:0006281 DNA repair NAS 12773567
GO:0006974 cellular response to DNA damage stimulus IDA 12773567
GO:0010212 response to ionizing radiation IDA 12773567
genes like me logo Genes that share ontologies with TOPBP1: view

Compounds for TOPBP1 Gene

(2) ApexBio Compounds for TOPBP1 Gene

Compound Action Cas Number
Amrubicin "Topoisomerase II inhibitor, anthracycline agent" [110267-81-7]
Mitoxantrone HCl [70476-82-3]

(1) Novoseek inferred chemical compound relationships for TOPBP1 Gene

Compound -log(P) Hits PubMed IDs
hydroxyurea 36.6 1
genes like me logo Genes that share compounds with TOPBP1: view

Transcripts for TOPBP1 Gene

Unigene Clusters for TOPBP1 Gene

Topoisomerase (DNA) II binding protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOPBP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOPBP1 Gene

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: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - -
SP12: - -
SP13:
SP14: - -
SP15: - - - - -
SP16: -
SP17: - -
SP18: - - -
SP19:
SP20:
SP21:

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:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 29 ^ 30 ^ 31
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for TOPBP1 Gene

GeneLoc Exon Structure for
TOPBP1
ECgene alternative splicing isoforms for
TOPBP1

Expression for TOPBP1 Gene

mRNA expression in normal human tissues for TOPBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for TOPBP1 Gene

This gene is overexpressed in Liver (43.8) and Tlymphocyte (14.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOPBP1 Gene

SOURCE GeneReport for Unigene cluster for TOPBP1 Gene Hs.593379

mRNA Expression by UniProt/SwissProt for TOPBP1 Gene

Q92547-TOPB1_HUMAN
Tissue specificity: Highly expressed in heart, brain, placenta, lung and kidney.
genes like me logo Genes that share expressions with TOPBP1: view

Expression partners for TOPBP1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TOPBP1 Gene

Orthologs for TOPBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TOPBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TOPBP1 35
  • 90.69 (n)
  • 89.55 (a)
TOPBP1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOPBP1 35
  • 91.51 (n)
  • 90.98 (a)
TOPBP1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Topbp1 35
  • 80.97 (n)
  • 77.35 (a)
Topbp1 16
Topbp1 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOPBP1 35
  • 99.56 (n)
  • 99.47 (a)
TOPBP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Topbp1 35
  • 81.43 (n)
  • 78.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TOPBP1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOPBP1 35
  • 71.6 (n)
  • 68.37 (a)
TOPBP1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia topbp1 35
  • 66.58 (n)
  • 64.02 (a)
zebrafish
(Danio rerio)
Actinopterygii topbp1 35
  • 58 (n)
  • 53.37 (a)
topbp1 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mus101 37
  • 25 (a)
mus101 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mus-101 36
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
OneToMany
-- 36
  • 28 (a)
OneToMany
Species with no ortholog for TOPBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TOPBP1 Gene

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

Paralogs for TOPBP1 Gene

Paralogs for TOPBP1 Gene

Selected SIMAP similar genes for TOPBP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TOPBP1: view

Variants for TOPBP1 Gene

Sequence variations from dbSNP and Humsavar for TOPBP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs12469 -- 133,662,940(+) TTTTT(G/T)AATAC upstream-variant-2KB
rs1051770 -- 133,656,788(-) TAACT(A/C)ACCTT missense, reference
rs1051772 -- 133,608,613(-) GACTC(A/G)GGAGT reference, synonymous-codon
rs1131886 -- 133,659,055(-) ATCTG(C/T)GACCC synonymous-codon, reference
rs1348574 -- 133,656,237(-) TGAGA(G/T)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TOPBP1 Gene

Variant ID Type Subtype PubMed ID
esv2725942 CNV Deletion 23290073
esv2677101 CNV Deletion 23128226

Relevant External Links for TOPBP1 Gene

HapMap Linkage Disequilibrium report
TOPBP1
Human Gene Mutation Database (HGMD)
TOPBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOPBP1 Gene

Disorders for TOPBP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TOPBP1 Gene in MalaCards »

(2) Diseases for TOPBP1 Gene including...

(5) Novoseek inferred disease relationships for TOPBP1 Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 51 2
breast cancer 6.03 3
breast carcinoma 2.77 3
tumors 0 5
cancer 0 4

Relevant External Links for TOPBP1

Genetic Association Database (GAD)
TOPBP1
Human Genome Epidemiology (HuGE) Navigator
TOPBP1
genes like me logo Genes that share disorders with TOPBP1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for TOPBP1 Gene

Publications for TOPBP1 Gene

  1. A DNA topoisomerase II binding protein with eight repeating regions similar to DNA repair enzymes and to a cell cycle regulator. (PMID: 9461304) Yamane K. … Tsuruo T. (Eur. J. Biochem. 1997) 2 3 4 23
  2. Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA. (PMID: 10498869) Yamane K. … Tsuruo T. (Oncogene 1999) 3 4 23
  3. Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. (PMID: 11714696) Honda Y. … Nakao M. (J. Biol. Chem. 2002) 3 4 23
  4. Regulation of E2F1 by BRCT domain-containing protein TopBP1. (PMID: 12697828) Liu K. … Lin W.-C. (Mol. Cell. Biol. 2003) 3 4 23
  5. PML colocalizes with and stabilizes the DNA damage response protein TopBP1. (PMID: 12773567) Xu Z.-X. … Chang K.-S. (Mol. Cell. Biol. 2003) 3 4 23

Products for TOPBP1 Gene

Sources for TOPBP1 Gene

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