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This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromo... See more...
Aliases for TOP1 Gene
Aliases for TOP1 Gene
External Ids for TOP1 Gene
- HGNC: 11986
- NCBI Entrez Gene: 7150
- Ensembl: ENSG00000198900
- OMIM®: 126420
- UniProtKB/Swiss-Prot: P11387
Previous GeneCards Identifiers for TOP1 Gene
- GC20P039385
- GC20P040295
- GC20P040342
- GC20P039090
- GC20P039657
- GC20P036395
Summaries for TOP1 Gene
-
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
GeneCards Summary for TOP1 Gene
TOP1 (DNA Topoisomerase I) is a Protein Coding gene. Diseases associated with TOP1 include Systemic Scleroderma and Neutropenia. Among its related pathways are SUMOylation and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include core promoter sequence-specific DNA binding. An important paralog of this gene is TOP1MT.
UniProtKB/Swiss-Prot Summary for TOP1 Gene
-
Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Involved in the circadian transcription of the core circadian clock component ARNTL/BMAL1 by altering the chromatin structure around the ROR response elements (ROREs) on the ARNTL/BMAL1 promoter.
-
Topoisomerases are ubiquitously expressed enzymes that overcome topological problems in genomic DNA, which can result from DNA replication, transcription and repair. Common problems such as knots and tangles are often resolved by topoisomerases.
Additional gene information for TOP1 Gene
No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOP1 Gene
Genomics for TOP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TOP1 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 TOP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOP1
- Top Transcription factor binding sites by QIAGEN in the TOP1 gene promoter:
-
- AP-1
- ATF-2
- c-Fos
- c-Jun
- CREB
- Sp1
Genomic Locations for TOP1 Gene
Latest Assembly
- chr20:41,028,822-41,124,487
- (GRCh38/hg38)
- Size:
- 95,666 bases
- Orientation:
- Plus strand
Previous Assembly
- chr20:39,657,462-39,753,127
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 95,666 bases
- Orientation:
- Plus strand
Genomic View for TOP1 Gene
Genes around TOP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q12 by HGNC
- 20q12 by Entrez Gene
- 20q12 by Ensembl
TOP1 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 TOP1 Gene
Proteins for TOP1 Gene
-
Protein details for TOP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P11387-TOP1_HUMAN
- Recommended name:
- DNA topoisomerase 1
- Protein Accession:
- P11387
- A8KA78
- E1P5W3
- O43256
- Q12855
- Q12856
- Q15610
- Q5TFY3
- Q9UJN0
Protein attributes for TOP1 Gene
- Size:
- 765 amino acids
- Molecular mass:
- 90726 Da
- Quaternary structure:
-
- Monomer. Interacts with ERCC6 (PubMed:26030138).
- (Microbial infection) Interacts with SV40 Large T antigen; this interactions allows viral DNA replication.
- SequenceCaution:
-
- Sequence=CAA36834.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
- Miscellaneous:
-
- Eukaryotic topoisomerase I and II can relax both negative and positive supercoils, whereas prokaryotic enzymes relax only negative supercoils.
Protein Expression for TOP1 Gene
Selected DME Specific Peptides for TOP1 Gene
- P11387:
-
- EEQLMKLEVQATDREENKQIALGTSKLNYLDPRI
- GLTAKVFRTYNAS
- KWKWWEEER
- DYKPKKIK
- LRAGNEK
- AKILSYNRANR
- VKFYYDG
- VAILCNHQ
- VEKRVFKNL
- IFRKNFFKDW
- KEEKLKIK
- KDREKSKHSNSEHKDSEKKHKEKEKTKHKDGSS
- DFLGKDS
- SKCDFTQM
- ITNLSKCDF
- VESKKKAVQR
- KVTWLVSWTENIQGSIKYIMLNPSSRIKGEKDWQKYETA
- KLSPKAEEVATFFAKMLDHEYTTK
- GVPIEKIYNKTQR
- PPPGHKWKEVRHDN
- RIMPEDIIINCSKD
- KNLQLFMENK
- KHKDKHK
- KVPSPPPG
- HPKMGMLKRRI
- LEHKGPVFAP
- ADTVGCC
Post-translational modifications for TOP1 Gene
- Sumoylated. Lys-117 is the main site of sumoylation. Sumoylation plays a role in partitioning TOP1 between nucleoli and nucleoplasm. Levels are dramatically increased on camptothecin (CPT) treatment.
- Phosphorylation at Ser-506 by CK2 increases binding to supercoiled DNA and sensitivity to camptothecin.
-
Ubiquitination at Lys223, Lys245, Lys252, Lys262, Lys354, Lys549, Lys587, Lys642, and Lys742
- NX_P11387 (NX_P11387-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TOP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences TOP1 / Topoisomerase I Antibody (LS-B11789) and TOP1 / Topoisomerase I Antibody (LS-B15072)
- G Biosciences Immunotagā¢ TOP1 Antibody
- Novus Biologicals Antibodies for TOP1
-
Abcam antibodies for TOP1
- Invitrogen Antibodies for TOP1 (AFLGC-Top1)
-
Custom Antibody ServicesProSci Antibodies for TOP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TOP1
Protein products for research
-
OriGene Purified Proteins for TOP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TOP1
- Origene Custom Protein Services for TOP1
- Sino Biological Cell Lysates for TOP1
- Sino Biological Recombinant Proteins for TOP1
- ProSpec Recombinant Proteins for TOP1
-
Abcam proteins for TOP1
Assay products for research
- antibodies-online: Show 28 available Topoisomerase I Elisa Kits ranked by validation data
- Compare Top Topoisomerase I Elisa Kits
-
Quality Products:
- ABIN825066
- ABIN415304
- ABIN1572849
- ABIN5520403
- ABIN5591971
- ABIN5659376
- ABIN2539777
- ABIN6203767
- ABIN2947064
- ABIN5071761
- ABIN1572850
- ABIN5520404
- ABIN425451
- ABIN5591972
- ABIN5659377
- ABIN2539778
- ABIN6203768
- ABIN4973449
- ABIN2947065
- ABIN5069812
- ABIN432643
- ABIN5659378
- ABIN6203770
- ABIN6203771
- ABIN6203769
- ABIN1130208
Domains & Families for TOP1 Gene
Gene Families for TOP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
Protein Domains for TOP1 Gene
- InterPro:
- Blocks:
-
- Eukaryotic-like DNA topoisomerase I
- Eukaryotic DNA topoisomerase I, DNA binding
Suggested Antigen Peptide Sequences for TOP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Topoisomerase (DNA) I (B9EG90_HUMAN)
- TOP1 protein (Q6NWZ5_HUMAN)
- TOP1 protein (Q6PK95_HUMAN)
- DNA topoisomerase I (TOP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P11387- Family:
-
- Belongs to the type IB topoisomerase family.
Function for TOP1 Gene
Molecular function for TOP1 Gene
- UniProtKB/Swiss-Prot Function:
- Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Involved in the circadian transcription of the core circadian clock component ARNTL/BMAL1 by altering the chromatin structure around the ROR response elements (ROREs) on the ARNTL/BMAL1 promoter.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.; EC=5.6.2.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10130, ECO:0000269|PubMed:14594810, ECO:0000269|PubMed:16033260, ECO:0000269|PubMed:2833744};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Specifically inhibited by camptothecin (CPT), a plant alkaloid with antitumor activity.
- GENATLAS Biochemistry:
- DNA topoisomerase I,ubiquitous,catalyzing the ATP independent breakage and rejoining of single strand of DNA,relaxing negatively supercoiled DNA,involved in DNA repair
Enzyme Numbers (IUBMB) for TOP1 Gene
Phenotypes From GWAS Catalog for TOP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 22904072 |
| GO:0003677 | DNA binding | IEA,IMP | 10497031 |
| GO:0003682 | chromatin binding | IDA | 9049244 |
| GO:0003690 | double-stranded DNA binding | IMP | 8631794 |
| GO:0003697 | single-stranded DNA binding | IMP | 8631794 |
Phenotypes for TOP1 Gene
- MGI mutant phenotypes for TOP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TOP1:
-
- shRNA abundance <= 25%
- Mildly decreased CFP-tsO45G cell surface transport
- Reduced mammosphere formation
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability
- Increased ionizing radiation sensitivity
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability after ionizing radiation
- Decreased CDKN1A mRNA expression
- Increased the percentage of infected cells
- Increased shRNA abundance (Z-score > 2)
- Decreased BBC3 mRNA expression
Animal Models for TOP1 Gene
- MGI Knock Outs for TOP1:
-
- Top1 Top1<tm1Unc>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TOP1 - Starting at $85 >
- * TOP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TOP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOP1
miRNA for TOP1 Gene
- miRTarBase miRNAs that target TOP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOP1
- Browse OriGene Inhibitory RNA Products For TOP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP1
Clone products for research
- Applied Biological Materials (abm): Clones for TOP1 - Starting at $45 >
- * TOP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOP1
Cell Lines for research
-
Horizon Cell Lines for TOP1
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TOP1 Gene
Localization for TOP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TOP1 Gene
- Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Diffuse nuclear localization with some enrichment in nucleoli. On CPT treatment, cleared from nucleoli into nucleoplasm. Sumoylated forms found in both nucleoplasm and nucleoli.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nucleoli fibrillar center (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | colocalizes_with nuclear chromosome | IDA | 9049244 |
| GO:0000932 | P-body | IDA | 12878161 |
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA,IDA | 9049244 |
| GO:0005654 | nucleoplasm | IMP,TAS | -- |
Pathways & Interactions for TOP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | SUMOylation |
.95
|
|
| 3 | DNA Damage | ||
| 4 | Irinotecan Pathway, Pharmacokinetics | ||
| 5 | Transport of the SLBP independent Mature mRNA | ||
Pathways by source for TOP1 Gene
2 BioSystems pathways for TOP1 Gene
5 Reactome pathways for TOP1 Gene
1 PharmGKB pathway for TOP1 Gene
2 GeneGo (Thomson Reuters) pathways for TOP1 Gene
- Cell cycle Transition and termination of DNA replication
- Cell cycle_Chromosome condensation in prometaphase
1 Cell Signaling Technology pathway for TOP1 Gene
Interacting Proteins for TOP1 Gene
Selected Interacting proteins:
P11387-TOP1_HUMAN
ENSP00000354522
for TOP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TOP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006260 | DNA replication | IEA,IBA | 21873635 |
| GO:0006265 | DNA topological change | IEA,IMP | 8567649 |
| GO:0006338 | chromatin remodeling | IMP | 22904072 |
| GO:0007059 | chromosome segregation | IBA | 21873635 |
| GO:0007623 | circadian rhythm | IEP | 22904072 |
Drugs & Compounds for TOP1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Irinotecan | Approved, Investigational | Pharma | Target, inhibitor, Biomarker | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1504 | |
| Topotecan | Approved, Investigational | Pharma | Target, inhibitor, Biomarker | Topoisomerase 1 inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 398 | |
| Capecitabine | Approved, Investigational | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines | 1763 | ||
| Ciprofloxacin | Approved, Investigational | Pharma | 329 | |||
| Oxaliplatin | Approved, Investigational | Pharma | Antitumor agent, Platinum | 2071 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Dexrazoxane hydrochloride |
|
1263283-43-7 |
|
|
||
| Doxorubicin hydrochloride |
|
25316-40-9 |
|
|
||
| Mitoxantrone dihydrochloride |
|
70476-82-3 |
|
|
(4) Tocris Compounds for TOP1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Dexrazoxane hydrochloride | Topoisomerase II inhibitor | 1263283-43-7 |
| Doxorubicin hydrochloride | Antitumor antibiotic agent. Inhibits DNA topoisomerase II | 25316-40-9 |
| Ellipticine | Antitumor and intercalating agent; inhibits DNA topoisomerase II | 519-23-3 |
| Mitoxantrone dihydrochloride | Topoisomerase II inhibitor; immunosuppressive and antineoplastic agent | 70476-82-3 |
(30) ApexBio Compounds for TOP1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (S)-10-Hydroxycamptothecin | 19685-09-7 | |
| 7-Ethyl-10-hydroxycamptothecin | TOPO I inhibitor | 86639-52-3 |
| Adenine sulfate | Sulfate salt form of adenine | 321-30-2 |
| Beta-Lapachone | DNA topoisomerase I inhibitor,selective | 4707-32-8 |
| Blasticidin S HCl | 3513-03-9 | |
| Camptothecin | Topoisomerase I inhibitor,prototypic | 7689-03-4 |
| Capecitabine | 154361-50-9 | |
| Carmofur | Cytostatic derivative of fluorouracilm,antineoplatic agent | 61422-45-5 |
| Ciprofloxacin | 85721-33-1 | |
| Epirubicin HCl | Antibiotic antitumor agent | 56390-09-1 |
| Flumequine | 42835-25-6 | |
| Gemcitabine HCl | Inhibits DNA synthesis,deoxycytidine analog | 122111-03-9 |
| Genz-644282 | Non-camptothecin inhibitor of topoisomerase I | 529488-28-6 |
| Idarubicin HCl | Anthracycline and daunorubicin analog,topoisomerase inhibitor | 57852-57-0 |
| Irinotecan | Topoisomerase I inhibitor | 97682-44-5 |
| Irinotecan HCl Trihydrate | TOPO 1 inhibitor | 136572-09-3 |
| Mercaptopurine (6-MP) | Purine synthesis inhibitor | 50-44-2 |
| Moxifloxacin HCl | Fluoroquinolone antibiotic | 186826-86-8 |
| Nelarabine | Prodrug of ara-G for T-LBL/T-ALL | 121032-29-9 |
| Novobiocin Sodium | 1476-53-5 | |
| Ofloxacin | Fluoroquinolones,antibiotics | 82419-36-1 |
| Oxaliplatin | Antitumor agent | 61825-94-3 |
| Podophyllotoxin | 518-28-5 | |
| Rifaximin (Xifaxan) | RNA synthesis inhibitor, PXR activator | 80621-81-4 |
| Teniposide | 29767-20-2 | |
| Topotecan | Topoisomerase 1 inhibitor | 123948-87-8 |
| Topotecan HCl | Topoisomerase 1 inhibitor | 119413-54-6 |
| Uridine | 58-96-8 | |
| Voreloxin | Topo II inhibitor | 175414-77-4 |
| Voreloxin Hydrochloride | Antineoplastic naphthyridine analogue | 175519-16-1 |
Transcripts for TOP1 Gene
mRNA/cDNA for TOP1 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361337 3734 nts (view in UCSC)
- ENST00000680945 2532 nts
- ENST00000681058 8092 nts
- ENST00000681113 3938 nts
- ENST00000681392 4782 nts
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TOP1 - Starting at $85 >
- * TOP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TOP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOP1
- Browse OriGene Inhibitory RNA Products For TOP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP1
Clone products for research
- Applied Biological Materials (abm): Clones for TOP1 - Starting at $45 >
- * TOP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOP1
Relevant External Links for TOP1 Gene
- GeneLoc Exon Structure for
- TOP1
Expression for TOP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
This gene is overexpressed in Peripheral blood mononuclear cells (11.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOP1
SOURCE GeneReport for Unigene cluster for TOP1 Gene:
Hs.472737mRNA Expression by UniProt/SwissProt for TOP1 Gene:
P11387-TOP1_HUMAN
Tissue specificity:
Endothelial cells.
Evidence on tissue expression from TISSUES for TOP1 Gene
- Liver(4.6)
- Blood(4.6)
- Nervous system(4.4)
- Intestine(3.5)
- Kidney(3.2)
- Lung(3.1)
- Spleen(3)
- Heart(2.9)
- Skin(2.8)
- Bone marrow(2.8)
- Lymph node(2.7)
- Muscle(2.7)
- Stomach(2.5)
- Thyroid gland(2.3)
- Pancreas(2.2)
- Adrenal gland(2.2)
- Eye(2.1)
Primer products for research
-
OriGene qPCR primer pairs for TOP1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOP1 Gene
Orthologs for TOP1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TOP1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TOP 30 |
|
OneToOne | |
| TOP1 29 |
|
||||
| Cow (Bos Taurus) |
Mammalia | TOP1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TOP1 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Top1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Top1 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TOP1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TOP1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TOP1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496521 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.62 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | top1l 29 30 |
|
OneToMany | |
| top1 30 |
|
OneToMany | |||
| TOP1 (1 of 3) 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Top1 29 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004078 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | top-1 29 30 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL008C 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOP1 29 30 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C06116g 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TOP1BETA 29 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.6815 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0154600 29 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.26671 29 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.5813 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8887 30 |
|
OneToMany | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | top1 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09118 29 |
|
- Species where no ortholog for TOP1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- 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 Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for TOP1 Gene
- ENSEMBL:
- Gene Tree for TOP1 (if available)
- TreeFam:
- Gene Tree for TOP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TOP1: view image
- Alliance of Genome Resources:
- Additional Orthologs for TOP1
Paralogs for TOP1 Gene
(1) SIMAP similar genes for TOP1 Gene using alignment to 4 proteins:
- TOP1_HUMAN
- B9EG90_HUMAN
- Q6NWZ5_HUMAN
- Q6PK95_HUMAN
Pseudogenes.org Pseudogenes for TOP1 Gene
Variants for TOP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOP1 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 996729 | Association: Autism spectrum disorder | 41,101,262(+) |
A/T NM_003286.4(TOP1):c.1217A>T (p.His406Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs121434562 | Pathogenic: DNA topoisomerase I, camptothecin-resistant | 41,101,297(+) |
G/A NM_003286.4(TOP1):c.1252G>A (p.Glu418Lys) |
MISSENSE | |
| rs149334682 | Benign: not provided | 41,084,482(+) |
C/T NM_003286.4(TOP1):c.528C>T (p.Pro176=) |
SYNONYMOUS | |
| rs267607131 | CPT-resistant leukemia |
p.Asp533Gly |
|||
| rs35905808 | Benign: not provided | 41,061,479(+) |
G/A NM_003286.4(TOP1):c.144G>A (p.Lys48=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3447212 | CNV | insertion | 20981092 |
| esv3645833 | CNV | loss | 21293372 |
| nsv1064246 | CNV | loss | 25217958 |
| nsv833982 | CNV | loss | 17160897 |
| nsv833983 | CNV | loss | 17160897 |
| nsv964397 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.53;
29.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TOP1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOP1 Gene
Disorders for TOP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| systemic scleroderma |
|
|
| neutropenia |
|
|
| diffuse scleroderma |
|
|
| syndromic x-linked intellectual disability cabezas type |
|
|
| myelodysplastic syndrome |
|
|
Search TOP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TOP1_HUMAN- Note=A chromosomal aberration involving TOP1 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with NUP98. {ECO:0000269 PubMed:10556215}.
Additional Disease Information for TOP1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for TOP1 Gene
Publications for TOP1 Gene
- Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan. (PMID: 19604089) Hoskins JM ā¦ Innocenti F (Pharmacogenomics 2009) 3 22 40
- Sumoylation of topoisomerase I is involved in its partitioning between nucleoli and nucleoplasm and its clearing from nucleoli in response to camptothecin. (PMID: 12149243) Rallabhandi P ā¦ D'Arpa P (The Journal of biological chemistry 2002) 3 4 22
- 8-Oxoguanine rearranges the active site of human topoisomerase I. (PMID: 12209008) Lesher DT ā¦ Redinbo MR (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22
- Mutation at the catalytic site of topoisomerase I in CEM/C2, a human leukemia cell line resistant to camptothecin. (PMID: 7882333) Fujimori A ā¦ Pommier Y (Cancer research 1995) 3 4 22
- Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites. (PMID: 1849260) Tamura H ā¦ Nishikawa K (Nucleic acids research 1991) 3 4 22
ExternalLinks
Products for TOP1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TOP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TOP1
- Origene Custom Protein Services for TOP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOP1
- Browse OriGene Inhibitory RNA Products For TOP1
- OriGene qPCR primer pairs for TOP1
- OriGene CRISPR knockouts for TOP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TOP1
- Browse Sino Biological cDNA Clones
- Sino Biological Cell Lysates for TOP1
- Sino Biological Recombinant Proteins for TOP1
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- 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 TOP1
- Novus Biologicals proteins and lysates for TOP1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for TOP1
- Abcam proteins for TOP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ApexBio compounds for TOP1
- VectorBuilder Custom and pre-made DNA vectors for TOP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TOP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TOP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TOP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TOP1
- antibodies-online: Show 70 available Topoisomerase I Antibodies ranked by validation data
- Compare Top Topoisomerase I Antibodies
- antibodies-online: Show 28 available Topoisomerase I Elisa Kits ranked by validation data
- Compare Top Topoisomerase I Elisa Kits
- Quality Products:
- ABIN825066
- ABIN415304
- ABIN1572849
- ABIN5520403
- ABIN5591971
- ABIN5659376
- ABIN2539777
- ABIN6203767
- ABIN2947064
- ABIN5071761
- ABIN1572850
- ABIN5520404
- ABIN425451
- ABIN5591972
- ABIN5659377
- ABIN2539778
- ABIN6203768
- ABIN4973449
- ABIN2947065
- ABIN5069812
- ABIN432643
- ABIN5659378
- ABIN6203770
- ABIN6203771
- ABIN6203769
- ABIN1130208
- antibodies-online: Show 13 available Topoisomerase I Proteins ranked by validation data
- Compare Top Topoisomerase I Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TOP1
- Search Santa Cruz Biotechnology (SCBT) for TOP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TOP1
- Horizon Cell Lines for TOP1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TOP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP1
Sources for TOP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131)