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    Top1mt DNA topoisomerase 1, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 72960, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Top1mtprovided by MGI
    Official Full Name
    DNA topoisomerase 1, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:1920210
    See related
    Ensembl:ENSMUSG00000000934 AllianceGenome:MGI:1920210
    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
    2900052H09Rik
    Summary
    Predicted to enable DNA topoisomerase type I (single strand cut, ATP-independent) activity. Predicted to be involved in DNA replication and DNA topological change. Located in mitochondrion. Orthologous to human TOP1MT (DNA topoisomerase I mitochondrial). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E18 (RPKM 9.5), placenta adult (RPKM 8.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Top1mt in Genome Data Viewer
    Location:
    15 D3; 15 34.69 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (75528878..75551184, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (75657033..75678800, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_39016 Neighboring gene RIKEN cDNA 2810039B14 gene Neighboring gene predicted gene, 38506 Neighboring gene VISTA enhancer mm1304 Neighboring gene STARR-positive B cell enhancer ABC_E4136 Neighboring gene rhophilin, Rho GTPase binding protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E10864 Neighboring gene MAF bZIP transcription factor A

    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. Transcription profiling suggests that mitochondrial topoisomerase IB acts as a topological barrier and regulator of mitochondrial DNA transcription. Dalla Rosa I, et al. J Biol Chem, 2017 Dec 8. PMID 29021209, Free PMC Article
    2. Increased negative supercoiling of mtDNA in TOP1mt knockout mice and presence of topoisomerases IIα and IIβ in vertebrate mitochondria. Zhang H, et al. Nucleic Acids Res, 2014 Jun. PMID 24803675, Free PMC Article
    3. Negative regulation of mitochondrial transcription by mitochondrial topoisomerase I. Sobek S, et al. Nucleic Acids Res, 2013 Nov. PMID 23982517, Free PMC Article
    4. The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis. Baechler SA, et al. Nat Commun, 2019 Jan 8. PMID 30622257, Free PMC Article
    5. Lack of mitochondrial topoisomerase I (TOP1mt) impairs liver regeneration. Khiati S, et al. Proc Natl Acad Sci U S A, 2015 Sep 8. PMID 26305952, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.
      Title: Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.
    2. Study demonstrated that lack of TOP1MT results in delayed and decreased tumor growth due to impaired mitochondrial translation. The TOP1MT genomic signature profile, based on mouse model for Top1mt-KO liver cancers, is correlated with enhanced survival of hepatocellular carcinoma patients.
      Title: The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis.
    3. TOP1MT acts as a topological barrier and regulator for mtDNA transcription and D-loop formation
      Title: Transcription profiling suggests that mitochondrial topoisomerase IB acts as a topological barrier and regulator of mitochondrial DNA transcription.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial nucleoid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion 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
    		  

    General protein information

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    Preferred Names
    DNA topoisomerase I, mitochondrial
    Names
    mitochondrial topoisomerase I
    NP_001342518.1
    NP_082680.1
    XP_036015505.1

    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)

    1. NM_001355589.1 → NP_001342518.1  DNA topoisomerase I, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC116393
      UniProtKB/TrEMBL
      B7ZNM9
      Conserved Domains (2) summary
      smart00435
      Location:188 → 564
      TOPEUc; DNA Topoisomerase I (eukaryota)
      pfam02919
      Location:44 → 257
      Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment

    2. NM_028404.3 → NP_082680.1  DNA topoisomerase I, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_082680.1

      Status: VALIDATED

      Source sequence(s)
      AC116393
      Consensus CDS
      CCDS27547.1
      UniProtKB/Swiss-Prot
      Q8R4U6
      Related
      ENSMUSP00000000958.9, ENSMUST00000000958.9
      Conserved Domains (4) summary
      smart00435
      Location:189 → 565
      TOPEUc; DNA Topoisomerase I (eukaryota)
      pfam01028
      Location:261 → 464
      Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
      pfam02919
      Location:44 → 258
      Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
      pfam14370
      Location:523 → 591
      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_000081.7 Reference GRCm39 C57BL/6J

      Range
      75528878..75551184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159612.1 → XP_036015505.1  DNA topoisomerase I, mitochondrial isoform X1

      Conserved Domains (2) summary
      smart00435
      Location:98 → 474
      TOPEUc; DNA Topoisomerase I (eukaryota)
      pfam02919
      Location:1 → 167
      Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R4U6.1 GenPept UniProtKB/Swiss-Prot:Q8R4U6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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