TOP1 DNA topoisomerase I [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOP1provided by HGNC
Official Full Name: DNA topoisomerase Iprovided by HGNC
Primary source: HGNC:HGNC:11986
See related: Ensembl:ENSG00000198900 MIM:126420; AllianceGenome:HGNC:11986
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TOPI
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 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]
Expression: Ubiquitous expression in bone marrow (RPKM 33.0), lymph node (RPKM 31.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q12

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (41028822..41124487)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (42760511..42856164)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (39657462..39753127)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircTOP1 targeted regulation of PTBP1 expression promotes the progression of coronary artery calcification.
Title: CircTOP1 targeted regulation of PTBP1 expression promotes the progression of coronary artery calcification.
Levels of anti-topoisomerase I antibody correlated with short onset of cardiopulmonary involvement in Thai systemic sclerosis patients.
Title: Levels of anti-topoisomerase I antibody correlated with short onset of cardiopulmonary involvement in Thai systemic sclerosis patients.
Human DNA topoisomerase I poisoning causes R loop-mediated genome instability attenuated by transcription factor IIS.
Title: Human DNA topoisomerase I poisoning causes R loop-mediated genome instability attenuated by transcription factor IIS.
G-quadruplexes on chromosomal DNA negatively regulates topoisomerase 1 activity.
Title: G-quadruplexes on chromosomal DNA negatively regulates topoisomerase 1 activity.
Coinhibition of topoisomerase 1 and BRD4-mediated pause release selectively kills pancreatic cancer via readthrough transcription.
Title: Coinhibition of topoisomerase 1 and BRD4-mediated pause release selectively kills pancreatic cancer via readthrough transcription.
Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation.
Title: Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation.
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Title: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Topoisomerase 1 activity during mitotic transcription favors the transition from mitosis to G1.
Title: Topoisomerase 1 activity during mitotic transcription favors the transition from mitosis to G1.
Topoisomerase I (TOP1) dynamics: conformational transition from open to closed states.
Title: Topoisomerase I (TOP1) dynamics: conformational transition from open to closed states.
TDP1 and TOP1 as targets in anticancer treatment of NSCLC: Activity and protein level in normal and tumor tissue from 150 NSCLC patients correlated to clinical data.
Title: TDP1 and TOP1 as targets in anticancer treatment of NSCLC: Activity and protein level in normal and tumor tissue from 150 NSCLC patients correlated to clinical data.

Submit: New GeneRIF Correction See all GeneRIFs (209)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
nucleocapsid	gag	Expression of human topoisomerase I in African green monkey cells enhances the infectivity of HIV-1 in these cells	PubMed
	gag	Topoisomerase I activity has been detected in HIV particles and HIV-1 nucleocapsid has been shown to interact with and enhance the activity of cellular topoisomerase I, thereby enhancing HIV-1 reverse transcription	PubMed
reverse transcriptase	gag-pol	Topoisomerase I and adenosine triphosphate (ATP) enhance cDNA synthesis by HIV-1 reverse transcriptase, and Topoisomerase I mutants R488A and K532A, lacking enzymatic activity, attenuate the efficiency of cDNA synthesis	PubMed
	gag-pol	Topoisomerase I (topo I) enhances HIV-1 reverse transcriptase activity in vitro and this effect can be inhibited by the topo I-specific inhibitor camptothecin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S758 (e-PCR)
- UniSTS:81173

STS-AA009654 (e-PCR)
- UniSTS:68887

Z94472 (e-PCR)
- UniSTS:24366

PMC133732P2 (e-PCR)
- UniSTS:270642

PMC133732P3 (e-PCR)
- UniSTS:270643

PMC133732P4 (e-PCR)
- UniSTS:270644

RH71031 (e-PCR)
- UniSTS:46134

WI-18785 (e-PCR)
- UniSTS:33893

SHGC-12857 (e-PCR)
- UniSTS:33894

RH36224 (e-PCR)
- UniSTS:5235

AL031477 (e-PCR)
- UniSTS:62585

AL023695 (e-PCR)
- UniSTS:30660

RH71013 (e-PCR)
- UniSTS:23006

SHGC-78852 (e-PCR)
- UniSTS:100836

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA binding	EXP Inferred from Experiment more info	PubMed
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA binding, bending	EXP Inferred from Experiment more info	PubMed
enables DNA topoisomerase type I (single strand cut, ATP-independent) activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA topoisomerase type I (single strand cut, ATP-independent) activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA topoisomerase type I (single strand cut, ATP-independent) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables single-stranded DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables supercoiled DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA topological change	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA topological change	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA topological change	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryonic cleavage	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in programmed cell death	NAS Non-traceable Author Statement more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
colocalizes_with nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
part_of protein-DNA complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: DNA topoisomerase 1

Names: Scl-70 antigen; topoisomerase (DNA) I; type I DNA topoisomerase

NP_003277.1

EC 5.6.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.