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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] See more...
Aliases for TOPBP1 Gene
Aliases for TOPBP1 Gene
External Ids for TOPBP1 Gene
- HGNC: 17008
- Entrez Gene: 11073
- Ensembl: ENSG00000163781
- OMIM: 607760
- UniProtKB: Q92547
Previous GeneCards Identifiers for TOPBP1 Gene
- GC03M130264
- GC03M134064
- GC03M134601
- GC03M134640
- GC03M134802
- GC03M133319
- GC03M130698
Summaries 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 (DNA Topoisomerase II Binding Protein 1) is a Protein Coding gene. Diseases associated with TOPBP1 include Ataxia-Telangiectasia and Fanconi Anemia, Complementation Group J. Among its related pathways are DNA Double-Strand Break Repair and Gene Expression. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is SLF1.
UniProtKB/Swiss-Prot Summary 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 (PubMed:16530042).
Additional gene information for TOPBP1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOPBP1 Gene
Genomics for TOPBP1 Gene
GeneHancer (GH) Regulatory Elements for TOPBP1 Gene
Promoters and enhancers for TOPBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TOPBP1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOPBP1
- Top Transcription factor binding sites by QIAGEN in the TOPBP1 gene promoter:
-
- FOXL1
- GATA-1
- HFH-1
- HSF1 (long)
- HSF1short
- NRF-2
- p53
- TBP
- TFIID
- Zic3
Genomic Locations for TOPBP1 Gene
Genomic Locations for TOPBP1 Gene
- chr3:133,598,175-133,662,380
- (GRCh38/hg38)
- Size:
- 64,206 bases
- Orientation:
- Minus strand
- chr3:133,317,019-133,380,737
- (GRCh37/hg19)
- Size:
- 63,719 bases
- Orientation:
- Minus strand
Genomic View for TOPBP1 Gene
Genes around TOPBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q22.1 by HGNC
- 3q22.1 by Entrez Gene
- 3q22.1 by Ensembl
TOPBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B7Z7W8
- Q7LGC1
- Q9UEB9
Protein attributes for TOPBP1 Gene
- Size:
- 1522 amino acids
- Molecular mass:
- 170679 Da
- Quaternary structure:
-
- Interacts with POLE (PubMed:11395493). Interacts with RAD9A (PubMed:11395493). Interacts with UBR5 (PubMed:11714696). Interacts with E2F1 (PubMed:12697828, PubMed:15075294). Interacts with PML (PubMed:12773567). Interacts with SMARCA2 (PubMed:15075294). Interacts with SMARCA4 (PubMed:15075294). Interacts with RHNO1 (PubMed:21659603). May interact with TOP2B (PubMed:9461304). Interacts with TICRR (PubMed:20080954). Interacts with HELB (PubMed:25933514).
- SequenceCaution:
-
- Sequence=BAA13389.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA34202.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TOPBP1 Gene
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
- NX_Q92547 (NX_Q92547-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TOPBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TOPBP1 Antibody
- Creative Diagnostics Anti-TOPBP1 monoclonal antibody, clone 7E23
- Novus Biologicals Antibodies for TOPBP1
-
Abcam antibodies for TOPBP1
- Invitrogen Antibodies for TOPBP1 (AFLGC-TOPBP1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TOPBP1
Protein Products
-
OriGene Purified Proteins for TOPBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TOPBP1
- Origene Custom Protein Services for TOPBP1
-
Abcam proteins for TOPBP1
No data available for DME Specific Peptides for TOPBP1 Gene
Domains & Families for TOPBP1 Gene
Gene Families for TOPBP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for TOPBP1 Gene
- Blocks:
-
- BRCT domain
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TOPBP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Topoisomerase (DNA) II binding protein 1 (A0AV47_HUMAN)
- Topoisomerase (DNA) II binding protein 1 (A7E2X7_HUMAN)
- TOPBP1 protein (Q05BV8_HUMAN)
- DNA topoisomerase II-binding protein 1 (TOPB1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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 (PubMed:16530042).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during the S phase of the cell cycle. Up-regulated by E2F1 and interferon.
Phenotypes From GWAS Catalog 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 |
Phenotypes for TOPBP1 Gene
- MGI mutant phenotypes for TOPBP1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TOPBP1:
-
- Increased shRNA abundance (Z-score > 2)
- G0/1 arrest
- Increased G2M DNA content, increased 8N DNA content
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Mildly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for TOPBP1 Gene
- MGI Knock Outs for TOPBP1:
-
- Topbp1 Topbp1<tm1.2Dsh>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOPBP1 - Select products 50% OFF >
- * TOPBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TOPBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOPBP1
- genomics-online: gRNA clones - Search results for available TOPBP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOPBP1
miRNA for TOPBP1 Gene
- miRTarBase miRNAs that target TOPBP1
-
- hsa-mir-124-3p (MIRT022523)
- hsa-mir-215-5p (MIRT024830)
- hsa-mir-192-5p (MIRT026324)
- hsa-mir-23c (MIRT698109)
- hsa-mir-23b-3p (MIRT698110)
- hsa-mir-23a-3p (MIRT698111)
- hsa-mir-130a-5p (MIRT698112)
- hsa-mir-4704-3p (MIRT698113)
- hsa-mir-484 (MIRT698114)
- hsa-mir-3155b (MIRT698115)
- hsa-mir-3155a (MIRT698116)
- hsa-mir-3681-3p (MIRT698117)
- hsa-mir-216a-3p (MIRT698118)
- hsa-mir-128-3p (MIRT698119)
- hsa-mir-4762-5p (MIRT698120)
- hsa-mir-506-5p (MIRT698121)
- hsa-mir-27b-3p (MIRT698122)
- hsa-mir-27a-3p (MIRT698123)
- hsa-mir-4262 (MIRT698124)
- hsa-mir-181c-5p (MIRT698125)
- hsa-mir-181d-5p (MIRT698126)
- hsa-mir-181b-5p (MIRT698127)
- hsa-mir-181a-5p (MIRT698129)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOPBP1
- Browse OriGene Inhibitory RNA Products For TOPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOPBP1
- genomics-online: shRNA clones - Search results for available TOPBP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TOPBP1 - Select products 50% OFF >
- * TOPBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for TOPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOPBP1
- genomics-online: cdna clones - Search results for available TOPBP1 gene related products
- orf clones - Search results for available TOPBP1 gene related 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 3 |
| mitochondrion | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| peroxisome | 0 |
- Nucleoplasm (4)
| 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 | TAS | 9461304 |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for TOPBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Homologous DNA Pairing and Strand Exchange |
.01
|
|
| 3 | Regulation of TP53 Activity | ||
| 4 | Cell Cycle Checkpoints |
.84
|
|
| 5 | Gene Expression |
.48
|
|
Pathways by source for TOPBP1 Gene
3 BioSystems pathways for TOPBP1 Gene
18 Reactome pathways for TOPBP1 Gene
1 KEGG pathway for TOPBP1 Gene
1 Cell Signaling Technology pathway for TOPBP1 Gene
Interacting Proteins for TOPBP1 Gene
Selected Interacting proteins:
Q92547-TOPB1_HUMAN
ENSP00000260810
for TOPBP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TOPBP1
SIGNOR curated interactions for TOPBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006259 | DNA metabolic process | TAS | 9461304 |
| GO:0006260 | DNA replication | TAS | -- |
| GO:0006281 | DNA repair | NAS | 12773567 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA,IDA | 12773567 |
| GO:0010212 | response to ionizing radiation | IDA | 12773567 |
Drugs & 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 | Topoisomerase II inhibitor, anti-neoplastic drug | 70476-82-3 |
Transcripts for TOPBP1 Gene
mRNA/cDNA for TOPBP1 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000260810 5761 bps (ENST00000260810.10)
- ENST00000503338 618 bps (ENST00000503338.5)
- ENST00000503464 525 bps (ENST00000503464.1)
- ENST00000505804 472 bps (ENST00000505804.1)
- ENST00000506779 536 bps (ENST00000506779.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOPBP1 - Select products 50% OFF >
- * TOPBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TOPBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOPBP1
- genomics-online: gRNA clones - Search results for available TOPBP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOPBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOPBP1
- Browse OriGene Inhibitory RNA Products For TOPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOPBP1
- genomics-online: shRNA clones - Search results for available TOPBP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TOPBP1 - Select products 50% OFF >
- * TOPBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for TOPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOPBP1
- genomics-online: cdna clones - Search results for available TOPBP1 gene related products
- orf clones - Search results for available TOPBP1 gene related products
| 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 | ^ |
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| SP17: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ^ |
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| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP21: |
| ExUns: | 29 | ^ | 30 | ^ | 31 |
|---|---|---|---|---|---|
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| SP21: |
Relevant External Links for TOPBP1 Gene
- GeneLoc Exon Structure for
- TOPBP1
Expression 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, MaxQB, and MOPED for TOPBP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOPBP1
SOURCE GeneReport for Unigene cluster for TOPBP1 Gene:
Hs.593379mRNA Expression by UniProt/SwissProt for TOPBP1 Gene:
Q92547-TOPB1_HUMAN
Tissue specificity:
Highly expressed in heart, brain, placenta, lung and kidney.
Evidence on tissue expression from TISSUES for TOPBP1 Gene
- Bone marrow(4.3)
- Nervous system(3.5)
Primer Products
-
OriGene qPCR primer pairs for TOPBP1
- genomics-online: primer clones - Search results for available TOPBP1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOPBP1 Gene
Orthologs for TOPBP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TOPBP1 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TOPBP1 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TOPBP1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Topbp1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Topbp1 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TOPBP1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TOPBP1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | topbp1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | topbp1 31 30 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | mus101 31 32 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | mus-101 31 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany |
- Species where no ortholog for TOPBP1 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TOPBP1: view image
Paralogs for TOPBP1 Gene
Variants for TOPBP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOPBP1 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 670995 | Benign: not provided | 133,637,946(-) | G/A | MISSENSE_VARIANT | |
| rs10935070 | -. - | p.Asn955Serp.Asn1042Ser | |||
| rs17301766 | - | p.Ser817Leu |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2677101 | CNV | deletion | 23128226 |
| esv2725942 | CNV | deletion | 23290073 |
| esv3562577 | CNV | deletion | 23714750 |
| esv3597847 | CNV | loss | 21293372 |
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)
Additional Variant Information for TOPBP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOPBP1 Gene
Disorders for TOPBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ataxia-telangiectasia |
|
|
| fanconi anemia, complementation group j |
|
|
| seckel syndrome |
|
|
| congenital hypoplastic anemia |
|
|
| xeroderma pigmentosum, variant type |
|
|
Search TOPBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TOPBP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for TOPBP1 Gene
Publications for TOPBP1 Gene
- 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 (European journal of biochemistry 1997) 2 3 4 23 54
- A vertebrate gene, ticrr, is an essential checkpoint and replication regulator. (PMID: 20080954) Sansam CL … Lees JA (Genes & development 2010) 3 4 23 54
- TopBP1 activates the ATR-ATRIP complex. (PMID: 16530042) Kumagai A … Dunphy WG (Cell 2006) 3 4 23 54
- Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. (PMID: 16930991) Karppinen SM … Winqvist R (European journal of cancer (Oxford, England : 1990) 2006) 3 23 41 54
- TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. (PMID: 15075294) Liu K … Lin WC (Genes & development 2004) 3 4 23 54
ExternalLinks
Products for TOPBP1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TOPBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TOPBP1
- Origene Custom Protein Services for TOPBP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOPBP1
- Browse OriGene Inhibitory RNA Products For TOPBP1
- OriGene qPCR primer pairs for TOPBP1
- OriGene CRISPR knockouts for TOPBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TOPBP1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TOPBP1
- Novus Biologicals proteins and lysates for TOPBP1
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for TOPBP1
- Abcam proteins for TOPBP1
- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for TOPBP1 (AFLGC-TOPBP1)
- ApexBio compounds for TOPBP1
- VectorBuilder Custom and pre-made DNA vectors for TOPBP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TOPBP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TOPBP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TOPBP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TOPBP1
- Addgene plasmids for TOPBP1
- antibodies-online: Show 27 available TOPBP1 Antibodies ranked by validation data
- Compare Top TOPBP1 Antibodies
- antibodies-online: Search results for available TOPBP1 related products ranked by validation data
- antibodies-online: Show 6 available TOPBP1 Proteins ranked by validation data
- Compare Top TOPBP1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TOPBP1
- Search Santa Cruz Biotechnology (SCBT) for TOPBP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TOPBP1
- genomics-online: cdna clones - Search results for available TOPBP1 gene related products
- orf clones - Search results for available TOPBP1 gene related products
- genomics-online: gRNA clones - Search results for available TOPBP1 gene related products
- genomics-online: primer clones - Search results for available TOPBP1 gene related products
- genomics-online: shRNA clones - Search results for available TOPBP1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOPBP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TOPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOPBP1
Sources for TOPBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody