Gene Gene information from NCBI Gene database.
Entrez ID 7150
Gene name DNA topoisomerase I
Gene symbol TOP1
Synonyms (NCBI Gene)
TOPI
Chromosome 20
Chromosome location 20q12
Summary 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 a
miRNA miRNA information provided by mirtarbase database.
555
miRTarBase ID miRNA Experiments Reference
MIRT024385 hsa-miR-215-5p Microarray 19074876
MIRT026200 hsa-miR-192-5p Microarray 19074876
MIRT028857 hsa-miR-26b-5p Microarray 19088304
MIRT030382 hsa-miR-24-3p qRT-PCR;Microarray 19748357
MIRT044929 hsa-miR-186-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CEBPB Unknown 8524227
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IDA 9049244
GO:0000932 Component P-body IDA 12878161
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 22904072
GO:0001650 Component Fibrillar center IDA
GO:0001650 Component Fibrillar center IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126420 11986 ENSG00000198900
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11387
Protein name DNA topoisomerase 1 (EC 5.6.2.1) (DNA topoisomerase I)
Protein 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 targ
PDB 1A31 , 1A35 , 1A36 , 1EJ9 , 1K4S , 1K4T , 1LPQ , 1NH3 , 1R49 , 1RR8 , 1RRJ , 1SC7 , 1SEU , 1T8I , 1TL8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02919 Topoisom_I_N 215 429 Eukaryotic DNA topoisomerase I, DNA binding fragment Family
PF01028 Topoisom_I 432 665 Eukaryotic DNA topoisomerase I, catalytic core Domain
PF14370 Topo_C_assoc 695 765 C-terminal topoisomerase domain Family
Tissue specificity TISSUE SPECIFICITY: Endothelial cells. {ECO:0000269|PubMed:19168442}.
Sequence
Sequence length 765
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of DNA replication proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DNA topoisomerase I, camptothecin-resistant Pathogenic rs121434562 RCV000018262
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 12645654
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29869738
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 15100157
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 30140420
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 23626666, 30679601 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 24793032
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 25032865 Stimulate
★☆☆☆☆
Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA Ataxia-oculomotor apraxia BEFREE 15719174
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 24793032
★☆☆☆☆
Found in Text Mining only
Ataxias, Hereditary Ataxia BEFREE 29177742
★☆☆☆☆
Found in Text Mining only