TOP1 Gene (Protein Coding)

DNA Topoisomerase I

GC20P041028
GIFtS:
48
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

  • DNA Topoisomerase I 2 3 4 5
  • Topoisomerase (DNA) I 2 3
  • DNA Topoisomerase 1 3 4
  • Scl-70 Antigen 2 3
  • Type I DNA Topoisomerase 3
  • EC 5.99.1.2 51
  • EC 5.6.2.1 4
  • TOPI 3
  • TOP1 5

External Ids for TOP1 Gene

Previous GeneCards Identifiers for TOP1 Gene

  • GC20P039385
  • GC20P040295
  • GC20P040342
  • GC20P039090
  • GC20P039657
  • GC20P036395

Summaries for TOP1 Gene

Entrez Gene Summary 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]

CIViC Summary for TOP1 Gene

GeneCards Summary for TOP1 Gene

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.

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.

Tocris Summary for TOP1 Gene

  • 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.

Gene Wiki entry for TOP1 Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for TOP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J041027 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 613.5 +1.4 1403 5.6 CEBPG SP1 HNRNPL CREB1 REST ZNF629 TFE3 LEF1 IKZF1 NFKBIZ TOP1 NONHSAG031788.2 lnc-ZHX3-7 LPIN3 lnc-PLCG1-2 PLCG1
GH20J041136 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.7 +111.1 111104 7.5 SP1 CREB1 GATAD2A PRDM10 TFE3 NFKBIZ ZNF692 RCOR2 POLR2A ZNF7 PLCG1 PLCG1-AS1 TOP1 CHD6 LPIN3 MIR6871 ZHX3
GH20J041692 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas 43.5 +664.8 664783 2.8 SP1 CREB1 GATAD2A CTCF YBX1 PRDM10 TFE3 SIX5 SOX13 IKZF1 TOP1 PLCG1 CHD6 RNU6-1018P RF00019-075 RF00026-642
GH20J041339 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.5 +312.7 312745 4.3 HNRNPL CREB1 GATAD2A CTCF PRDM10 TFE3 IKZF1 NFKBIZ KDM1A RCOR2 LPIN3 TOP1 PLCG1 NONHSAG031795.2 EMILIN3
GH20J040990 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 20.5 -37.4 -37437 2.4 SP1 GATAD2A CTCF PRDM10 LEF1 IKZF1 POLR2A BACH1 JUND FOXA1 TOP1 MAFB RNU2-52P NONHSAG031785.2 LOC100128988 lnc-ZHX3-6 piR-50444-277
- 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

Genomic Locations for TOP1 Gene
chr20:41,028,822-41,124,487
(GRCh38/hg38)
Size:
95,666 bases
Orientation:
Plus strand
chr20:39,657,458-39,753,127
(GRCh37/hg19)
Size:
95,670 bases
Orientation:
Plus strand

Genomic View for TOP1 Gene

Genes around TOP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TOP1 Gene

Proteins for TOP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TOP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11387-TOP1_HUMAN
    Recommended name:
    DNA topoisomerase 1
    Protein Accession:
    P11387
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TOP1 Gene

neXtProt entry for TOP1 Gene

Protein Expression for TOP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Modification sites at PhosphoSitePlus

Other Protein References for TOP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

  • Signalway Proteins for TOP1

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
ProtoNet:

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

UniProtKB/Swiss-Prot:

TOP1_HUMAN :
  • Belongs to the type IB topoisomerase family.
Family:
  • Belongs to the type IB topoisomerase family.
genes like me logo Genes that share domains with TOP1: view

Function for TOP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Gene Ontology (GO) - Molecular Function 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 IMP 10497031
GO:0003682 chromatin binding IDA 9049244
GO:0003690 double-stranded DNA binding IMP 8631794
GO:0003697 single-stranded DNA binding IMP 8631794
genes like me logo Genes that share ontologies with TOP1: view
genes like me logo Genes that share phenotypes with TOP1: view

Animal Models for TOP1 Gene

MGI Knock Outs for TOP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOP1 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOP1 Gene

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 --
genes like me logo Genes that share ontologies with TOP1: view

Pathways & Interactions for TOP1 Gene

genes like me logo Genes that share pathways with TOP1: view

Pathways by source for TOP1 Gene

2 BioSystems 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

SIGNOR curated interactions for TOP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TOP1 Gene

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
genes like me logo Genes that share ontologies with TOP1: view

Drugs & Compounds for TOP1 Gene

Products:

  1. Drug

(111) Drugs for TOP1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, Tocris, and Novoseek

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

(57) Additional Compounds for TOP1 Gene - From: Novoseek and Tocris

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
genes like me logo Genes that share compounds with TOP1: view

Drug Products

Transcripts for TOP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TOP1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP1

Alternative Splicing Database (ASD) splice patterns (SP) for TOP1 Gene

No ASD Table

Relevant External Links for TOP1 Gene

GeneLoc Exon Structure for
TOP1

Expression for TOP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOP1 Gene

mRNA expression in normal human tissues for TOP1 Gene
mRNA expression by BioGPS for TOP1 GenemRNA expression by GTEx for TOP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOP1 Gene

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



Protein tissue co-expression partners 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.472737

mRNA Expression by UniProt/SwissProt for TOP1 Gene:

P11387-TOP1_HUMAN
Tissue specificity: Endothelial cells.

Evidence on tissue expression from TISSUES for TOP1 Gene

  • Liver(4.7)
  • Blood(4.6)
  • Nervous system(4.4)
  • Intestine(3.7)
  • Kidney(3.4)
  • Lung(3.3)
  • Skin(3.2)
  • Heart(3.1)
  • Spleen(3.1)
  • Bone marrow(3)
  • Lymph node(2.9)
  • Muscle(2.9)
  • Stomach(2.7)
  • Thyroid gland(2.5)
  • Pancreas(2.5)
  • Eye(2.3)
  • Adrenal gland(2.3)
  • Gall bladder(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with TOP1: view

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.

Orthologs for TOP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TOP1 30 31
  • 99.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TOP 31
  • 98 (a)
 OneToOne
TOP1 30
  • 93.81 (n)
Cow
(Bos Taurus)
 Mammalia TOP1 30 31
  • 93.86 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TOP1 31
  • 93 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Top1 30 17 31
  • 90.85 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Top1 30
  • 90.72 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TOP1 31
  • 88 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TOP1 30 31
  • 83.25 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TOP1 31
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100496521 30
  • 74.83 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.62 30
Zebrafish
(Danio rerio)
 Actinopterygii top1l 30 31
  • 74.66 (n)
 OneToMany
top1 31
  • 72 (a)
 OneToMany
TOP1 (1 of 3) 31
  • 62 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Top1 30 31 32
  • 65.2 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004078 30
  • 63.92 (n)
Worm
(Caenorhabditis elegans)
 Secernentea top-1 30 31
  • 63.29 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACL008C 30
  • 57.23 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TOP1 30 31
  • 56.88 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C06116g 30
  • 55.49 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons TOP1BETA 30
  • 55.58 (n)
Soybean
(Glycine max)
 eudicotyledons Gma.6815 30
Rice
(Oryza sativa)
 Liliopsida Os08g0154600 30
  • 55.25 (n)
Wheat
(Triticum aestivum)
 Liliopsida Ta.26671 30
Corn
(Zea mays)
 Liliopsida Zm.5813 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8887 31
  • 63 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes top1 30
  • 56.41 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09118 30
  • 55.54 (n)
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

Paralogs for TOP1 Gene

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

genes like me logo Genes that share paralogs with TOP1: view

Variants for TOP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

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
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

Additional dbSNP identifiers (rs#s) for TOP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TOP1 Gene

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

Variation tolerance for TOP1 Gene

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

Human Gene Mutation Database (HGMD)
TOP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOP1 Gene

Disorders for TOP1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for TOP1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TOP1: view

No data available for Genatlas for TOP1 Gene

Publications for TOP1 Gene

  1. Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan. (PMID: 19604089) Hoskins JM … Innocenti F (Pharmacogenomics 2009) 3 23 41
  2. 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 … D'Arpa P (The Journal of biological chemistry 2002) 3 4 23
  3. 8-Oxoguanine rearranges the active site of human topoisomerase I. (PMID: 12209008) Lesher DT … Redinbo MR (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23
  4. Mutation at the catalytic site of topoisomerase I in CEM/C2, a human leukemia cell line resistant to camptothecin. (PMID: 7882333) Fujimori A … Pommier Y (Cancer research 1995) 3 4 23
  5. Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites. (PMID: 1849260) Tamura H … Nishikawa K (Nucleic acids research 1991) 3 4 23

ExternalLinks

View latest publications for TOP1 gene in Mastermind

Products for TOP1 Gene

Sources for TOP1 Gene