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Aliases for TOPBP1 Gene

Aliases for TOPBP1 Gene

  • Topoisomerase (DNA) II Binding Protein 1 2 3 5
  • DNA Topoisomerase II-Beta-Binding Protein 1 3 4
  • DNA Topoisomerase II-Binding Protein 1 3 4
  • KIAA0259 4
  • 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. Among its related pathways are Cell Cycle Checkpoints and Gene Expression. 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

Enhancers for TOPBP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TOPBP1 on UCSC Golden Path with GeneCards custom track

Promoters for TOPBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TOPBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TOPBP1 Gene

Chromosome:
3
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

Genes around TOPBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOPBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 224 and Lys 1421
  • 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 & Families 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 :
  • Contains 8 BRCT domains.
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: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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
golgi apparatus 5
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005813 centrosome IDA --
GO:0015629 actin cytoskeleton IDA --
GO:0016605 PML body IDA 12773567
genes like me logo Genes that share ontologies with TOPBP1: view

Pathways & Interactions for TOPBP1 Gene

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

Pathways by source for TOPBP1 Gene

1 Cell Signaling Technology pathway for TOPBP1 Gene
2 BioSystems pathways for TOPBP1 Gene

SIGNOR curated interactions for TOPBP1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TOPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process TAS 9461304
GO:0006260 DNA replication TAS --
GO:0010212 response to ionizing radiation IDA 12773567
genes like me logo Genes that share ontologies with TOPBP1: view

Drugs & Compounds for TOPBP1 Gene

(3) Drugs for TOPBP1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amrubicin Pharma Topoisomerase II inhibitor, anthracycline agent 19
Mitoxantrone HCl Pharma 0

(2) ApexBio Compounds for TOPBP1 Gene

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

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

Protein differential expression in normal tissues from HIPED for TOPBP1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TOPBP1: view

Protein tissue co-expression partners for TOPBP1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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

(1) 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
rs10935070 -, - 133,623,144(-) CACCA(A/C/G)TAATA reference, missense
rs17301766 - 133,637,946(+) GTAAC(A/G)AGGGC reference, missense
rs1051770 -- 133,656,788(-) TAACT(A/C)ACCTT reference, missense
rs1051772 -- 133,608,613(-) GACTC(A/G)GGAGT reference, synonymous-codon
rs1131886 -- 133,659,055(-) ATCTG(C/T)GACCC reference, synonymous-codon

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

Variation tolerance for TOPBP1 Gene

Residual Variation Intolerance Score: 93.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOPBP1 Gene

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

(1) MalaCards diseases for TOPBP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • ataxia telangiectasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TOPBP1

Genetic Association Database (GAD)
TOPBP1
Human Genome Epidemiology (HuGE) Navigator
TOPBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOPBP1
genes like me logo Genes that share disorders with TOPBP1: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. Interactions of human mismatch repair proteins MutSalpha and MutLalpha with proteins of the ATR-Chk1 pathway. (PMID: 20029092) Liu Y. … Modrich P. (J. Biol. Chem. 2010) 3 23
  3. The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation. (PMID: 20065034) Chowdhury A. … Leffak M. (Mol. Cell. Biol. 2010) 3 23
  4. A vertebrate gene, ticrr, is an essential checkpoint and replication regulator. (PMID: 20080954) Sansam C.L. … Lees J.A. (Genes Dev. 2010) 3 23
  5. BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. (PMID: 20159562) Gong Z. … Chen J. (Mol. Cell 2010) 3 23

Products for TOPBP1 Gene

Sources for TOPBP1 Gene

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