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

Summary

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; male germ cell nucleus; and perikaryon. Is expressed in brain; cerebral cortex subventricular zone; cerebral cortex ventricular layer; cortical plate; and telencephalon. Orthologous to human TOP1 (DNA topoisomerase I). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000068.8 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: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
TOP1cc-dependent and -independent contributions to gene expression
Title: Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms.
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.
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.
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)

Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC133732P2 (e-PCR)
- UniSTS:270642

BB194945 (e-PCR)
- UniSTS:207438

UniSTS:234589 (e-PCR)
- UniSTS:234589

BE115617 (e-PCR)
- UniSTS:248184

D2Ertd122e (e-PCR), detects polymorphism
- UniSTS:167301

AI467334 (e-PCR)
- UniSTS:185511

NoName (e-PCR)
- UniSTS:225214

D2Mit143 (e-PCR), detects polymorphism
- UniSTS:129004

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
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 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IEA Inferred from Electronic Annotation 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 protein domain specific binding	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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables supercoiled DNA binding	IEA Inferred from Electronic Annotation 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 chromatin remodeling	ISS Inferred from Sequence or Structural Similarity 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
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic cleavage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in rRNA transcription	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in P-body	IEA Inferred from Electronic Annotation more info
located_in P-body	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation 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
located_in nuclear chromosome	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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

EC 5.6.2.1

NP_001400078.1

EC 5.6.2.1

NP_001400079.1

EC 5.6.2.1

NP_033434.2

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.

mRNA and Protein(s)

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

Status: VALIDATED

Source sequence(s)

AL590414, AL591673
NM_001413149.1 → NP_001400078.1 DNA topoisomerase 1 isoform 3

Status: VALIDATED

Source sequence(s)

AL590414, AL591673
NM_001413150.1 → NP_001400079.1 DNA topoisomerase 1 isoform 4

Status: VALIDATED

Source sequence(s)

AL590414, AL591673
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