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TOP1 DNA topoisomerase I [ Homo sapiens (human) ]

Gene ID: 7150, updated on 17-Sep-2024

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
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Genomic context

See TOP1 in Genome Data Viewer
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_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128988 Neighboring gene uncharacterized LOC105372621 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:39625651-39626225 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39631901-39633100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17885 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:39657161-39657512 Neighboring gene origin of replication in promoter of TOP1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12912 Neighboring gene RNA, U2 small nuclear 52, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14849 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39686360-39687559 Neighboring gene t(11;20)(p15;q11) topoisomerase (DNA) I recombination region Neighboring gene PLCG1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12914 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39764698-39765482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:39766267-39767051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774494-39774994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774995-39775495 Neighboring gene phospholipase C gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39786713-39787233 Neighboring gene microRNA 6871

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 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

Preferred Names
DNA topoisomerase 1
Names
Scl-70 antigen
topoisomerase (DNA) I
type I DNA topoisomerase
NP_003277.1

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.

Genomic

  1. NG_012262.2 RefSeqGene

    Range
    5001..100666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003286.4NP_003277.1  DNA topoisomerase 1

    See identical proteins and their annotated locations for NP_003277.1

    Status: REVIEWED

    Source sequence(s)
    AK292943, BC000943, DA690829
    Consensus CDS
    CCDS13312.1
    UniProtKB/Swiss-Prot
    A8KA78, E1P5W3, O43256, P11387, Q12855, Q12856, Q15610, Q5TFY3, Q9UJN0
    UniProtKB/TrEMBL
    B9EG90
    Related
    ENSP00000354522.2, ENST00000361337.3
    Conserved Domains (2) summary
    smart00435
    Location:360737
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam02919
    Location:215429
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    41028822..41124487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    42760511..42856164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)