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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 chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
TOP1 (DNA Topoisomerase I) is a Protein Coding gene. Diseases associated with TOP1 include Systemic Scleroderma and Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include core promoter sequence-specific DNA binding. An important paralog of this gene is TOP1MT.
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.
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 | IMP | 10497031 |
GO:0003682 | chromatin binding | IDA | 9049244 |
GO:0003690 | double-stranded DNA binding | IMP | 8631794 |
GO:0003697 | single-stranded DNA binding | IMP | 8631794 |
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 | -- |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006260 | DNA replication | IEA,IBA | 21873635 |
GO:0006265 | DNA topological change | IMP | 8567649 |
GO:0006338 | chromatin remodeling | IMP | 22904072 |
GO:0007059 | chromosome segregation | IBA | 21873635 |
GO:0007623 | circadian rhythm | IEP | 22904072 |
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 | 1414 | |
Topotecan | Approved, Investigational | Pharma | Target, inhibitor, Biomarker | Topoisomerase 1 inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 384 | |
Capecitabine | Approved, Investigational | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines | 1669 | ||
Ciprofloxacin | Approved, Investigational | Pharma | 305 | |||
Oxaliplatin | Approved, Investigational | Pharma | Antitumor agent, Platinum | 1944 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Dexrazoxane hydrochloride |
|
1263283-43-7 |
|
|
||
Doxorubicin hydrochloride |
|
25316-40-9 |
|
|
||
Mitoxantrone dihydrochloride |
|
70476-82-3 |
|
|
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 |
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 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOP 31 |
|
OneToOne | |
TOP1 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | TOP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TOP1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Top1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Top1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TOP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TOP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TOP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496521 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.62 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | top1l 30 31 |
|
OneToMany | |
top1 31 |
|
OneToMany | |||
TOP1 (1 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Top1 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004078 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | top-1 30 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL008C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOP1 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C06116g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TOP1BETA 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.6815 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0154600 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.26671 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.5813 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8887 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | top1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09118 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708476 | Benign: not provided | 41,061,479(+) | G/A | SYNONYMOUS_VARIANT | |
713745 | Benign: not provided | 41,084,548(+) | A/G | SYNONYMOUS_VARIANT | |
717596 | Benign: not provided | 41,084,482(+) | C/T | SYNONYMOUS_VARIANT | |
749280 | Benign: not provided | 41,121,785(+) | G/A | SYNONYMOUS_VARIANT | |
777300 | Benign: not provided | 41,076,256(+) | C/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic scleroderma |
|
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |
|
|
neutropenia |
|
|
syndromic x-linked intellectual disability cabezas type |
|
|
diffuse scleroderma |
|
|