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Aliases for TOP1 Gene

Aliases for TOP1 Gene

  • Topoisomerase (DNA) I 2 3 5
  • EC 5.99.1.2 4 61
  • Type I DNA Topoisomerase 3
  • DNA Topoisomerase 1 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 Systemic Scleroderma and Crest Syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell cycle_Chromosome condensation in prometaphase. 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 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

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

Enhancers for TOP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F040990 1.4 FANTOM5 Ensembl ENCODE 20.5 -37.3 -37338 2.6 HDGF PKNOX1 ZFP64 SIN3A ARID4B DMAP1 ZNF48 ELK1 ZNF143 MIER2 TOP1 MAFB RNU2-52P LOC105372621 LOC100128988
GH20F041001 1.3 FANTOM5 Ensembl ENCODE 17.4 -22.8 -22817 9.2 PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 SLC30A9 MAFB TOP1 PLCG1 PLCG1-AS1 LPIN3 EMILIN3 LOC105372621 GC20M041019
GH20F041027 0.2 ENCODE 15.2 +0.9 870 4.5 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 DEK TOP1 LPIN3 GC20P041037
GH20F041045 0.9 Ensembl ENCODE 13 +21.0 20983 8.4 PKNOX1 ARNT WRNIP1 FEZF1 GATA2 FOS NCOA1 JUNB TSHZ1 MBD2 TOP1 RNU2-52P LPIN3 GC20P041040 GC20P041111
GH20F040997 0.6 ENCODE 12.7 -31.5 -31463 0.2 ZNF610 RNU2-52P TOP1 LOC105372621 LOC100128988
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TOP1 on UCSC Golden Path with GeneCards custom track

Promoters for TOP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001448876 782 2801 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 KLF13

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

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 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

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

  • 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 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.

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 IEA,IDA 17355975
GO:0003682 chromatin binding IDA 9049244
GO:0003916 DNA topoisomerase activity IEA --
GO:0003917 DNA topoisomerase type I activity IMP 17355975
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

Flow Cytometry Products

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. 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
cytosol 3
cytoskeleton 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 IEA,IDA 9049244
GO:0005654 nucleoplasm IEA,TAS --
GO:0005694 chromosome IEA --
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

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 IEA,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

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

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 1080
Topotecan Approved, Investigational Pharma inhibitor, Biomarker, Target Topoisomerase 1 inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 339
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1296
Ciprofloxacin Approved, Investigational Pharma 229
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1412

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SN 38
86639-52-3
CPT 11
100286-90-6
Doxorubicin hydrochloride
25316-40-9

(5) Tocris Compounds for TOP1 Gene

Compound Action Cas Number
CPT 11 DNA topoisomerase I inhibitor; antitumor 100286-90-6
Doxorubicin hydrochloride Antitumor antibiotic agent. Inhibits DNA topoisomerase II 25316-40-9
Etoposide Topoisomerase II inhibitor 33419-42-0
SN 38 DNA topoisomerase I inhibitor; antitumor 86639-52-3
Topotecan hydrochloride DNA topoisomerase I inhibitor; Camptothecin (Cat. No. 1100) analog 119413-54-6

(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

mRNA/cDNA for TOP1 Gene

(1) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(299) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TOP1 Gene

Topoisomerase (DNA) I:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TOP1 Gene



Protein tissue co-expression partners for TOP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOP1 Gene:

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TOP1 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia TOP 35
  • 98 (a)
OneToOne
TOP1 34
  • 93.81 (n)
cow
(Bos Taurus)
Mammalia TOP1 34 35
  • 93.86 (n)
oppossum
(Monodelphis domestica)
Mammalia TOP1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Top1 34 16 35
  • 90.85 (n)
rat
(Rattus norvegicus)
Mammalia Top1 34
  • 90.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TOP1 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOP1 34 35
  • 83.25 (n)
lizard
(Anolis carolinensis)
Reptilia TOP1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496521 34
  • 74.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.62 34
zebrafish
(Danio rerio)
Actinopterygii top1l 34 35
  • 74.66 (n)
top1 35
  • 72 (a)
OneToMany
TOP1 (1 of 3) 35
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Top1 36 34 35
  • 65.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004078 34
  • 63.92 (n)
worm
(Caenorhabditis elegans)
Secernentea top-1 34 35
  • 63.29 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL008C 34
  • 57.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOP1 34 35
  • 56.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06116g 34
  • 55.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TOP1BETA 34
  • 55.58 (n)
soybean
(Glycine max)
eudicotyledons Gma.6815 34
rice
(Oryza sativa)
Liliopsida Os08g0154600 34
  • 55.25 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.26671 34
corn
(Zea mays)
Liliopsida Zm.5813 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8887 35
  • 63 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes top1 34
  • 56.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09118 34
  • 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 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
rs267607131 CPT-resistant leukemia, Pathogenic 41,114,115(+) GAAGG(A/G)CTCCA intron-variant, reference, missense
VAR_007531 CPT-resistant lung cancer
VAR_010666 CPT-resistant leukemia
VAR_010667 CPT-resistant leukemia
VAR_036555 Breast cancer

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)

Relevant External Links for TOP1 Gene

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

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

Disorders for TOP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
systemic scleroderma
  • scleroderma, familial progressive
crest syndrome
  • calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
spinocerebellar ataxia, autosomal recessive with axonal neuropathy
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
lung cancer
  • lung cancer, protection against
neutropenia
  • leukopenia
- 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}.

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. Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan. (PMID: 19604089) Hoskins J.M. … Innocenti F. (Pharmacogenomics 2009) 3 22 46 64
  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. (J. Biol. Chem. 2002) 3 4 22 64
  3. 8-Oxoguanine rearranges the active site of human topoisomerase I. (PMID: 12209008) Lesher D.T. … Redinbo M.R. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 64
  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 Res. 1995) 3 4 22 64
  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 Res. 1991) 3 4 22 64

Products for TOP1 Gene

Sources for TOP1 Gene

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