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    TOP1 DNA topoisomerase I [ Homo sapiens (human) ]

    Gene ID: 7150, updated on 13-Apr-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
    NEW
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    Genomic context

    Location:
    20q12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (41028822..41124487)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42760511..42856164)
    105.20220307 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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)