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Aliases for TOP1 Gene

Aliases for TOP1 Gene

  • Topoisomerase (DNA) I 2 3
  • EC 5.99.1.2 4 63
  • Type I DNA Topoisomerase 3
  • DNA Topoisomerase I 4
  • TOPI 3

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]

GeneCards Summary for TOP1 Gene

TOP1 (Topoisomerase (DNA) I) is a Protein Coding gene. Diseases associated with TOP1 include spinocerebellar ataxia, autosomal recessive with axonal neuropathy and crest syndrome. Among its related pathways are Integrated Pancreatic Cancer Pathway and Apoptosis and survival Caspase cascade. GO annotations related to this gene include poly(A) RNA binding and core promoter sequence-specific DNA binding. An important paralog of this gene is TOP1MT.

UniProtKB/Swiss-Prot 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 undergoes passage around the unbroken 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOP1 Gene

Genomics for TOP1 Gene

Regulatory Elements for TOP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOP1 Gene

Chromosome:
20
Start:
41,028,818 bp from pter
End:
41,124,487 bp from pter
Size:
95,670 bases
Orientation:
Plus strand

Genomic View for TOP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    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 SV40 Large T antigen; this interactions allows viral DNA replication.
    Miscellaneous:
    • Eukaryotic topoisomerase I and II can relax both negative and positive supercoils, whereas prokaryotic enzymes relax only negative supercoils
    SequenceCaution:
    • Sequence=CAA36834.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TOP1 Gene

neXtProt entry for TOP1 Gene

Proteomics data for TOP1 Gene at MOPED

Post-translational modifications for TOP1 Gene

  • Phosphorylation at Ser-506 by CK2 increases binding to supercoiled DNA and sensitivity to camptothecin.
  • 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.
  • Ubiquitination at Lys 223, Lys 245, Lys 252, Lys 262, Lys 354, Lys 549, Lys 587, Lys 642, and Lys 742
  • Modification sites at PhosphoSitePlus

Other Protein References for TOP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for TOP1 Gene

Gene Families for TOP1 Gene

Suggested Antigen Peptide Sequences for TOP1 Gene

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

Molecular function for TOP1 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically inhibited by camptothecin (CPT), a plant alkaloid with antitumor activity
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 undergoes passage around the unbroken 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.

Enzyme Numbers (IUBMB) for TOP1 Gene

Gene Ontology (GO) - Molecular Function for TOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding IDA 22904072
GO:0003677 DNA binding IDA 17355975
GO:0003682 chromatin binding IDA 9049244
GO:0003917 DNA topoisomerase type I activity IMP 17355975
GO:0003918 DNA topoisomerase type II (ATP-hydrolyzing) activity IEA --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOP1

In Situ Assay Products

Flow Cytometry Products

No data available for 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. Sumolyated forms found in both nucleoplasm and nucleoli.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TOP1 Gene COMPARTMENTS Subcellular localization image for TOP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
mitochondrion 2
chloroplast 1
plasma membrane 1

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 cytoplasmic mRNA processing body IDA 12878161
GO:0005634 nucleus IDA 9049244
GO:0005654 nucleoplasm IDA 9049244
GO:0005694 chromosome --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 IBA --
GO:0006265 DNA topological change IDA 14594810
GO:0006338 chromatin remodeling IMP 22904072
GO:0007059 chromosome segregation IBA --
GO:0007623 circadian rhythm IEP 22904072
genes like me logo Genes that share ontologies with TOP1: view

Drugs & Compounds for TOP1 Gene

(103) Drugs for TOP1 Gene - From: NovoSeek, DGIdb, ApexBio, Tocris, DrugBank, FDA Approved Drugs, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Irinotecan Approved, Investigational Pharma inhibitor, Biomarker, Target Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1013
Topotecan Approved, Investigational Pharma inhibitor, Biomarker, Target TOPO I inhibitor, Topoisomerase 1 Inhibitors 326
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1179
Ciprofloxacin Approved, Investigational Pharma 200
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1276

(60) Additional Compounds for TOP1 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Doxorubicin hydrochloride
25316-40-9
10,11-Methylenedioxycamptothecin
4,6-diamidino-2-phenylindole
5-Aza-2deoxycytidine
5fluorouracil
genes like me logo Genes that share compounds with TOP1: view

Drug Products

Transcripts for TOP1 Gene

mRNA/cDNA for TOP1 Gene

Unigene Clusters for TOP1 Gene

Topoisomerase (DNA) I:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOP1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TOP1 Gene

GeneLoc Exon Structure for
TOP1
ECgene alternative splicing isoforms for
TOP1

Expression for TOP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TOP1 Gene



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.
genes like me logo Genes that share expression patterns with TOP1: view

Protein tissue co-expression partners for TOP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TOP1 35
  • 93.86 (n)
  • 97.91 (a)
TOP1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOP1 35
  • 93.81 (n)
  • 97.25 (a)
TOP 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Top1 35
  • 90.85 (n)
  • 97.25 (a)
Top1 16
Top1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOP1 35
  • 99.78 (n)
  • 100 (a)
TOP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Top1 35
  • 90.72 (n)
  • 97.25 (a)
oppossum
(Monodelphis domestica)
Mammalia TOP1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOP1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOP1 35
  • 83.25 (n)
  • 92.26 (a)
TOP1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOP1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496521 35
  • 74.83 (n)
  • 82.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.62 35
zebrafish
(Danio rerio)
Actinopterygii top1l 35
  • 74.66 (n)
  • 80.93 (a)
top1 36
  • 72 (a)
OneToMany
TOP1 (1 of 3) 36
  • 62 (a)
OneToMany
top1l 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Top1 37
  • 67 (a)
Top1 35
  • 65.2 (n)
  • 69.23 (a)
Top1 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004078 35
  • 63.92 (n)
  • 69.29 (a)
worm
(Caenorhabditis elegans)
Secernentea top-1 35
  • 63.29 (n)
  • 66.67 (a)
top-1 36
  • 49 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL008C 35
  • 57.23 (n)
  • 52.6 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06116g 35
  • 55.49 (n)
  • 52.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOP1 35
  • 56.88 (n)
  • 53.83 (a)
TOP1 36
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TOP1BETA 35
  • 55.58 (n)
  • 49.44 (a)
soybean
(Glycine max)
eudicotyledons Gma.6815 35
rice
(Oryza sativa)
Liliopsida Os08g0154600 35
  • 55.25 (n)
  • 51.11 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.26671 35
corn
(Zea mays)
Liliopsida Zm.5813 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09118 35
  • 55.54 (n)
  • 49.27 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes top1 35
  • 56.41 (n)
  • 53.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8887 36
  • 63 (a)
OneToMany
Species with no ortholog for TOP1:
  • 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 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)

Paralogs for TOP1 Gene

Paralogs for TOP1 Gene

(1) SIMAP similar genes for TOP1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TOP1 Gene

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

Variants for TOP1 Gene

Sequence variations from dbSNP and Humsavar for TOP1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs735114 -- 41,077,569(-) GTAAA(A/C)CAACA intron-variant
rs1546915 -- 41,094,216(-) TTTAC(A/G)TAACA intron-variant, upstream-variant-2KB
rs1997833 -- 41,061,702(+) TATGT(C/T)TAATT intron-variant
rs2064402 -- 41,032,356(+) TTTAT(A/T)TTTAA intron-variant
rs2076574 -- 41,092,733(-) CCTGA(C/T)GCCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833982 CNV Loss 17160897
nsv833983 CNV Loss 17160897

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)

Relevant External Links for TOP1 Gene

HapMap Linkage Disequilibrium report
TOP1
Human Gene Mutation Database (HGMD)
TOP1

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

Disorders for TOP1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TOP1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive with axonal neuropathy
  • spinocerebellar ataxia with axonal neuropathy, autosomal recessive
crest syndrome
  • calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
diffuse scleroderma
  • systemic scleroderma
irinotecan toxicity
systemic scleroderma
  • diffuse scleroderma
- elite association
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.

Relevant External Links for TOP1

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

No data available for Genatlas for TOP1 Gene

Publications for TOP1 Gene

  1. Irinotecan and its active metabolite, SN-38: review of bioanalytical methods and recent update from clinical pharmacology perspectives. (PMID: 19852077) Ramesh M. … Srinivas N.R. (Biomed. Chromatogr. 2010) 23 25 67
  2. Edotecarin: a novel topoisomerase I inhibitor. (PMID: 15929804) Saif M.W. … Diasio R.B. (Clin Colorectal Cancer 2005) 23 25 67
  3. Inhibition of Leishmania donovani promastigote DNA topoisomerase I and human monocyte DNA topoisomerases I and II by antimonial drugs and classical antitopoisomerase agents. (PMID: 15562618) Walker J. … Saravia N.G. (J. Parasitol. 2004) 23 25 67
  4. Sequencing topotecan and etoposide plus cisplatin to overcome topoisomerase I and II resistance: a pharmacodynamically based Phase I trial. (PMID: 12855624) Aisner J. … Rubin E.H. (Clin. Cancer Res. 2003) 23 25 67
  5. Action models for the antitumor drug camptothecin: formation of alkali-labile complex with DNA and inhibition of human DNA topoisomerase I. (PMID: 12437383) Streltsov S.A. (J. Biomol. Struct. Dyn. 2002) 23 25 67

Products for TOP1 Gene

Sources for TOP1 Gene

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