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TOP1 DNA topoisomerase I [ Homo sapiens (human) ]

Gene ID: 7150, updated on 9-Dec-2018

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
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

Genomic context

See TOP1 in Genome Data Viewer
Location:
20q12
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (41028818..41124487)
105 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 origin of replication in promoter of TOP1 Neighboring gene RNA, U2 small nuclear 52, pseudogene Neighboring gene t(11;20)(p15;q11) topoisomerase (DNA) I recombination region Neighboring gene PLCG1 antisense RNA 1 Neighboring gene phospholipase C gamma 1 Neighboring gene microRNA 6871 Neighboring gene ribosomal protein L23a pseudogene 81 Neighboring gene zinc fingers and homeoboxes 3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA replication proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA replication proteins, organism-specific biosystemThe sliding clamp protein PCNA, Aurora-A, Aurora-B, Borealin, and various topoisomerases can be SUMOylated (reviewed in Wan et al. 2012). SUMOylation of PCNA appears to reduce formation of double-str...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA topoisomerase type I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA topoisomerase type I activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA topoisomerase type I activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA binding HDA PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
single-stranded DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
supercoiled DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA topological change IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA topological change IDA
Inferred from Direct Assay
more info
PubMed 
DNA topological change IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
circadian rhythm IEP
Inferred from Expression Pattern
more info
PubMed 
embryonic cleavage IEA
Inferred from Electronic Annotation
more info
 
peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
programmed cell death NAS
Non-traceable Author Statement
more info
PubMed 
response to drug IEP
Inferred from Expression Pattern
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
DNA topoisomerase complex (ATP-hydrolyzing) IMP
Inferred from Mutant Phenotype
more info
PubMed 
P-body IDA
Inferred from Direct Assay
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
colocalizes_with nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
protein-DNA complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
replication fork protection complex IBA
Inferred from Biological aspect of Ancestor
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)

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_012262.1 RefSeqGene

    Range
    4997..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
    P11387
    UniProtKB/TrEMBL
    Q9BVT2
    Related
    ENSP00000354522.2, ENST00000361337.2
    Conserved Domains (3) summary
    smart00435
    Location:360737
    TOPEUc; DNA Topoisomerase I (eukaryota)
    cd03488
    Location:216430
    Topoisomer_IB_N_htopoI_like; Topoisomer_IB_N_htopoI_like : N-terminal DNA binding fragment found in eukaryotic DNA topoisomerase (topo) IB proteins similar to the monomeric yeast and human topo I. Topo I enzymes are divided into: topo type IA (bacterial) and type IB (eukaryotic). ...
    pfam10243
    Location:19145
    MIP-T3; Microtubule-binding protein MIP-T3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    41028818..41124487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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