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Top1 topoisomerase (DNA) I [ Mus musculus (house mouse) ]

Gene ID: 21969, updated on 21-Apr-2024

Summary

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Official Symbol
Top1provided by MGI
Official Full Name
topoisomerase (DNA) Iprovided by MGI
Primary source
MGI:MGI:98788
See related
Ensembl:ENSMUSG00000070544 AllianceGenome:MGI:98788
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Top-1; D130064I21Rik
Summary
Enables DNA topoisomerase type I (single strand cut, ATP-independent) activity. Acts upstream of or within DNA replication; DNA topological change; and embryonic cleavage. Located in cytoplasm; nucleus; and perikaryon. Is expressed in brain; cerebral cortex ventricular layer; cortical plate; and telencephalon. Orthologous to human TOP1 (DNA topoisomerase I). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 28.9), adrenal adult (RPKM 26.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 H2; 2 80.96 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (160487901..160564684)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (160645897..160722764)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 14221 Neighboring gene STARR-positive B cell enhancer ABC_E6011 Neighboring gene predicted gene, 57688 Neighboring gene STARR-positive B cell enhancer ABC_E646 Neighboring gene STARR-seq mESC enhancer starr_06260 Neighboring gene STARR-seq mESC enhancer starr_06261 Neighboring gene predicted gene, 54128 Neighboring gene STARR-seq mESC enhancer starr_06265 Neighboring gene phospholipase C, gamma 1 Neighboring gene zinc fingers and homeoboxes 3 Neighboring gene STARR-positive B cell enhancer ABC_E6012 Neighboring gene predicted gene, 35129

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms. Mabb AM, et al. PLoS One, 2016. PMID 27231886, Free PMC Article
  2. Topoisomerase 1 inhibition reversibly impairs synaptic function. Mabb AM, et al. Proc Natl Acad Sci U S A, 2014 Dec 2. PMID 25404338, Free PMC Article
  3. Mapping topoisomerase sites in mitochondrial DNA with a poisonous mitochondrial topoisomerase I (Top1mt). Dalla Rosa I, et al. J Biol Chem, 2014 Jun 27. PMID 24798329, Free PMC Article
  4. The molecular mechanism regulating the autonomous circadian expression of Topoisomerase I in NIH3T3 cells. Yang F, et al. Biochem Biophys Res Commun, 2009 Feb 27. PMID 19138663
  5. Glutamate regulates the activity of topoisomerase I in mouse cerebellum. Zehorai E, et al. Mol Neurobiol, 2008 Dec. PMID 18982460

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptional repression by a secondary DNA binding surface of DNA topoisomerase I safeguards against hypertranscription.
    Title: Transcriptional repression by a secondary DNA binding surface of DNA topoisomerase I safeguards against hypertranscription.
  2. Necessity of HuR/ELAVL1 for the activation-induced cytidine deaminase-dependent decrease in topoisomerase 1 in antibody diversification.
    Title: Necessity of HuR/ELAVL1 for the activation-induced cytidine deaminase-dependent decrease in topoisomerase 1 in antibody diversification.
  3. Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase.
    Title: Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase.
  4. Topoisomerase 1 (TOP1) conditionally deleted neurons develop properly, but then show biased transcriptional downregulation of long genes, signs of DNA damage, neuroinflammation, increased poly(ADP-ribose) polymerase-1 (PARP1) activity, single-cell somatic mutations, and ultimately degeneration. While neurodegeneration is partially rescued by supplementations, behavioral decline is not prevented.
    Title: Deletion of Topoisomerase 1 in excitatory neurons causes genomic instability and early onset neurodegeneration.
  5. treatment of topotecan, a brain-penetrating topoisomerase 1 inhibitor, to HD transgenic mouse considerably improved its motor behavioural abnormalities. Finally, we show that topotecan treatment to HD mouse not only inhibits the expression of transgenic mutant huntingtin, but also at the same time induces the expression of Ube3a
    Title: Topoisomerase 1 inhibitor topotecan delays the disease progression in a mouse model of Huntington's disease.
  6. It has been shown that the livers of Sprtn deficient mice accumulate DNA-protein crosslinks containing Topoisomerase 1 covalently linked to DNA.
    Title: Spartan deficiency causes accumulation of Topoisomerase 1 cleavage complexes and tumorigenesis.
  7. TOP1cc-dependent and -independent contributions to gene expression
    Title: Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms.
  8. this study identified topoisomerase 1 as a cardinal Aire partner that colocalized on super-enhancers and was required for the interaction of Aire with all of its other associates
    Title: The transcriptional regulator Aire binds to and activates super-enhancers.
  9. Data indicate that mitochondrial topoisomerase I (TOP1mt) knockout (KO) mice showed a marked reduction in regeneration and hepatocyte proliferation.
    Title: Lack of mitochondrial topoisomerase I (TOP1mt) impairs liver regeneration.
  10. Topoisomerase I deficiency in B cells is associated with RNA polymerase II accumulation, recruitment of activation-induced deaminase (AID) to immunoglobulin variable genes and the mechanism for increased diversity of these genes.
    Title: Topoisomerase I deficiency causes RNA polymerase II accumulation and increases AID abundance in immunoglobulin variable genes.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
  
enables DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables DNA binding, bending ISO
Inferred from Sequence Orthology
more info
  
enables DNA topoisomerase activity IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables chromatin DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
  
enables double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables supercoiled DNA binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA topological change IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within DNA topological change IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA topological change ISO
Inferred from Sequence Orthology
more info
  
involved_in chromatin remodeling ISO
Inferred from Sequence Orthology
more info
  
involved_in chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in circadian regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within embryonic cleavage IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptidyl-serine phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in rRNA transcription ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within rhythmic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in P-body ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dense fibrillar component ISO
Inferred from Sequence Orthology
more info
  
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
  
located_in male germ cell nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with nuclear chromosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-DNA complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
DNA topoisomerase 1
Names
DNA topoisomerase I
NP_001400077.1
NP_001400078.1
NP_001400079.1
NP_033434.2

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.

mRNA and Protein(s)

  1. NM_001413148.1 → NP_001400077.1  DNA topoisomerase 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL590414, AL591673

  2. NM_001413149.1 → NP_001400078.1  DNA topoisomerase 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL590414, AL591673

  3. NM_001413150.1 → NP_001400079.1  DNA topoisomerase 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL590414, AL591673

  4. NM_009408.3 → NP_033434.2  DNA topoisomerase 1 isoform 1

    See identical proteins and their annotated locations for NP_033434.2

    Status: VALIDATED

    Source sequence(s)
    AL590414, AL591673
    Consensus CDS
    CCDS16995.1
    UniProtKB/Swiss-Prot
    A2A4B7, Q04750
    Related
    ENSMUSP00000105094.3, ENSMUST00000109468.3
    Conserved Domains (4) summary
    smart00435
    Location:362 → 739
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam01028
    Location:434 → 637
    Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
    pfam02919
    Location:217 → 431
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    pfam14370
    Location:697 → 765
    Topo_C_assoc; C-terminal topoisomerase domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    160487901..160564684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q04750.2 GenPept UniProtKB/Swiss-Prot:Q04750

Gene LinkOut

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