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TOP1MT Gene

protein-coding   GIFtS: 57
GCID: GC08M144391

Topoisomerase (DNA) I, Mitochondrial

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Topoisomerase (DNA) I, Mitochondrial1 2
EC 5.99.1.23 8
DNA Topoisomerase I, Mitochondrial2
Mitochondrial Topoisomerase IB2
TOP1mt3

External Ids:    HGNC: 297871   Entrez Gene: 1164472   Ensembl: ENSG000001844287   OMIM: 6063875   UniProtKB: Q969P63   

Export aliases for TOP1MT gene to outside databases

Previous GC identifers: GC08M142583 GC08U900001 GC08M144166 GC08M144496 GC08M144463 GC08M139629


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TOP1MT Gene:
This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The
encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve
tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, May 2012)

GeneCards Summary for TOP1MT Gene:
TOP1MT (topoisomerase (DNA) I, mitochondrial) is a protein-coding gene. Diseases associated with TOP1MT include mitochondrial disorders, and intrahepatic cholangiocarcinoma. GO annotations related to this gene include DNA topoisomerase type I activity and DNA topoisomerase type II (ATP-hydrolyzing) activity. An important paralog of this gene is TOP1.

UniProtKB/Swiss-Prot: TOP1M_HUMAN, Q969P6
Function: Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial
DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via
transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic
tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the
expulsion of a 5'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus
removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to
expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TOP1MT gene promoter:
         RFX1   GATA-3   AP-1   AML1a   Lmo2   Nkx2-5   Cdc5   GATA-1   GATA-2   HEN1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOP1MT promoter sequence
   Search Chromatin IP Primers for TOP1MT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOP1MT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

TOP1MT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOP1MT gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144391:  view genomic region     (about GC identifiers)

Start:
144,386,554 bp from pter      End:
144,442,149 bp from pter
Size:
55,596 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TOP1M_HUMAN, Q969P6 (See protein sequence)
Recommended Name: DNA topoisomerase I, mitochondrial precursor  
Size: 601 amino acids; 69872 Da
Cofactor: Divalent metal ions (calcium or magnesium)
Sequence caution: Sequence=AAH44646.1; Type=Erroneous initiation;
Secondary accessions: B7ZAR5 E7ES89 Q86ST4 Q86V82
Alternative splicing: 2 isoforms:  Q969P6-1   Q969P6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOP1MT: NX_Q969P6

Explore proteomics data for TOP1MT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys320
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TOP1MT (Q969P6) (see all 7)
     LRAGNEK  ADTVGCC  VAILCNHQ  KNLQLFMENK 


    See TOP1MT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001245375.1  NP_001245376.1  NP_443195.1  

    ENSEMBL proteins: 
     ENSP00000427925   ENSP00000328835   ENSP00000428369   ENSP00000429169   ENSP00000429181  
     ENSP00000428727   ENSP00000428451   ENSP00000427998   ENSP00000429177   ENSP00000430139  
     ENSP00000430679   ENSP00000430209   ENSP00000428723   ENSP00000430635   ENSP00000428931  

    TOP1MT Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TOP1MT

    TOP1MT Antibody Products:

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    Novus Biologicals TOP1MT Antibodies
    Abcam antibodies for TOP1MT
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    LSBio Antibodies in human, mouse, rat for TOP1MT

    TOP1MT Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TOP1MT
    Cloud-Clone Corp. CLIAs for TOP1MT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     IPR013030 TopoI_DNA-bd_mixed-a/b_euk
     IPR008336 TopoI_DNA-bd_euk
     IPR001631 TopoI
     IPR018521 TopoI_AS
     IPR014727 TopoI_cat_a/b-sub_euk

    Graphical View of Domain Structure for InterPro Entry Q969P6

    ProtoNet protein and cluster: Q969P6

    2 Blocks protein domains:
    IPB001631 Eukaryotic-like DNA topoisomerase I
    IPB008336 Eukaryotic DNA topoisomerase I


    UniProtKB/Swiss-Prot: TOP1M_HUMAN, Q969P6
    Similarity: Belongs to the type IB topoisomerase family


    TOP1MT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOP1M_HUMAN, Q969P6
    Function: Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial
    DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via
    transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic
    tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the
    expulsion of a 5'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus
    removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to
    expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity)
    Catalytic activity: ATP-independent breakage of single-stranded DNA, followed by passage and rejoining

         Enzyme Number (IUBMB): EC 5.99.1.21 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003917DNA topoisomerase type I activity IBA--
    GO:0003918DNA topoisomerase type II (ATP-hydrolyzing) activity IEA--
    GO:0005524ATP binding IEA--
         
    TOP1MT for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TOP1MT:
     Increased HPV18 LCR reporter a  Increased cell number in G1, a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Top1mt):
     cellular  homeostasis/metabolism  liver/biliary system 

    TOP1MT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Top1mttm1Hlzh for TOP1MT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOP1MT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOP1MT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOP1MT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOP1MT

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TOP1MT

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TOP1MT

    Clone
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    OriGene clones in human, mouse for TOP1MT (see all 6)
    OriGene ORF clones in mouse, rat for TOP1MT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TOP1MT (NM_052963)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOP1MT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOP1MT

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TOP1MT
    Browse ESI BIO Cell Lines and PureStem Progenitors for TOP1MT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOP1MT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TOP1M_HUMAN, Q969P6: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    peroxisome2
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome ----
    GO:0005730NOT nucleolus IBA--
    GO:0005739mitochondrion IDA--
    GO:0031298NOT replication fork protection complex IBA--

    TOP1MT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TOP1MT
    Interactions:

        Search GeneGlobe Interaction Network for TOP1MT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TOP1MT (ENSP000003288354) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MRE11AENSP000003258634STRING: ENSP00000325863
    MUS81ENSP000003078534STRING: ENSP00000307853
    ENSG00000228532ENSP000003912664STRING: ENSP00000391266
    EXOSC10ENSP000003661354STRING: ENSP00000366135
    POLR1EENSP000003670294STRING: ENSP00000367029
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IBA--
    GO:0006265DNA topological change IBA--
    GO:0006338NOT chromatin remodeling IBA--
    GO:0007059NOT chromosome segregation IBA--

    TOP1MT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TOP1MT (TOP1M)

    2 HMDB Compounds for TOP1MT    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    2 DrugBank Compounds for TOP1MT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IrinotecanCamptothecin-11 (see all 2)100286-90-6targetinhibitor15975002 19852077 15170677 17139284 9342501 11752352 17016423 15255290 16309825 16454746
    TopotecanTopotecan Hcl (see all 5)119413-54-6targetinhibitor8390858



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TOP1MT gene (3 alternative transcripts): 
    NM_001258446.1  NM_001258447.1  NM_052963.2  

    Unigene Cluster for TOP1MT:

    Topoisomerase (DNA) I, mitochondrial
    Hs.528574  [show with all ESTs]
    Unigene Representative Sequence: NM_001258446
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000519977 ENST00000329245(uc003yxz.3 uc010mfd.1) ENST00000517857
    ENST00000521193(uc011lkd.2) ENST00000519148(uc011lkf.2 uc011lke.2)
    ENST00000523676 ENST00000518951 ENST00000519139 ENST00000522041 ENST00000519591
    ENST00000522121 ENST00000523417 ENST00000518007 ENST00000518760 ENST00000520950
    ENST00000522043 ENST00000524092 ENST00000505857(uc003yya.3)
    miRNA
    Products:
         
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    Search for qRT-PCR Assays for microRNAs that regulate TOP1MT
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TOP1MT
    Predesigned siRNA for gene silencing in human, mouse, rat TOP1MT
    Clone
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    OriGene clones in human, mouse for TOP1MT (see all 6)
    OriGene ORF clones in mouse, rat for TOP1MT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TOP1MT (NM_052963)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOP1MT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOP1MT
    Primer
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    OriGene qPCR primer pairs and template standards for TOP1MT
    OriGene qSTAR qPCR primer pairs in human, mouse for TOP1MT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TOP1MT
      QuantiTect SYBR Green Assays in human, mouse, rat TOP1MT
      QuantiFast Probe-based Assays in human, mouse, rat TOP1MT

    Additional mRNA sequence: 

    AF349017.1 AK302372.1 AK303237.1 AK308475.1 AK309005.1 AK311647.1 AK315913.1 AK316380.1 
    BC027453.1 BC044646.1 BC052285.1 BC071914.1 

    12 DOTS entries:

    DT.95214348  DT.100824881  DT.121472384  DT.205226  DT.100824891  DT.100044439  DT.95167773  DT.97780538 
    DT.91766968  DT.97759942  DT.97759943  DT.40309006 

    Selected AceView cDNA sequences (see all 178):

    AF349017 BM553027 AI570976 CR590524 CA455206 CR622914 NM_052963 BM759055 
    CR623300 BX343174 BQ919197 BC027453 CD674181 BM713183 AL519055 BE259905 
    AW248607 BQ641446 CR594056 BM767425 CR602435 BM718043 BG030862 BM763016 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TOP1MT (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18
    SP1:              -     -     -                       -                                                                       -         
    SP2:                    -     -                       -                                                                                 
    SP3:                          -                       -                                                                                 
    SP4:                                                  -                                                                                 
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for TOP1MT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TOP1MT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGAGAAG
    TOP1MT Expression
    About this image


    TOP1MT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
    TOP1MT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOP1MT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528574

    UniProtKB/Swiss-Prot: TOP1M_HUMAN, Q969P6
    Tissue specificity: Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver

        Custom PCR Arrays for TOP1MT
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    QuantiTect SYBR Green Assays in human, mouse, rat TOP1MT
    QuantiFast Probe-based Assays in human, mouse, rat TOP1MT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOP1MT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TOP1MT gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Top1mt1 , 5 DNA topoisomerase 1, mitochondrial1, 5 78.07(n)1
    75.84(a)1
      15 (34.69 cM)5
    729601  NM_028404.21  NP_082680.11 
     756570355 
    chicken
    (Gallus gallus)
    Aves TOP1MT1 topoisomerase (DNA) I, mitochondrial 73.56(n)
    75.34(a)
      408025  NM_001001300.1  NP_001001300.1 
    lizard
    (Anolis carolinensis)
    Reptilia TOP1MT6
    topoisomerase (DNA) I, mitochondrial
    75(a)
    1 ↔ 1
    GL343222.1(2599378-2624708)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX742887.12   -- 74.41(n)    BX742887.1 
    zebrafish
    (Danio rerio)
    Actinopterygii top1mt1 mitochondrial topoisomerase I 67.76(n)
    66.09(a)
      415098  NM_001001838.1  NP_001001838.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Top13 embryonic morphogenesis DNA
    topoisomerase I
    62(a)   1 13B6   --
    worm
    (Caenorhabditis elegans)
    Secernentea top-16
    Protein TOP-1, isoform b (top-1) mRNA, complete cd...
    41(a)
    1 → many
    I(13292514-13297530) WBGene00006595
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TOP1(YOL006C)4 Topoisomerase I, nuclear enzyme that relieves torsional strain in DNA by cleaving and re-sealing the phosphodiester backbone; relaxes both positively and negatively supercoiled DNA; functions in replication, transcription, and recombination less   --   15(315387-313078) 854156  NP_014637.1 
    rice
    (Oryza sativa)
    Liliopsida AK070325.12   -- 72.43(n)    AK070325.1 


    ENSEMBL Gene Tree for TOP1MT (if available)
    TreeFam Gene Tree for TOP1MT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOP1MT gene
    TOP12  
    1 SIMAP similar gene for TOP1MT using alignment to 14 protein entries:     TOP1M_HUMAN (see all proteins):
    TOP1

    TOP1MT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TOP1MT (see all 1630)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357398271,2
    C,F--144391001(+) CAGGCG/ATCAGG 3 -- ds50014Minor allele frequency- A:0.07NA EA 244
    rs69863271,2
    C,F,A,H--144391106(+) CAAGCG/AATCCT 3 -- ds500114Minor allele frequency- A:0.23EA NS WA NA CSA 668
    rs664722691,2
    C--144391187(+) TTTTC-/TTT   
       
    /TTTT
    TTTTT
    3 -- ds50011NA 2
    rs1909039701,2
    --144391232(+) GGCTGC/GAGTGC 3 -- ds50010--------
    rs1819969131,2
    --144391245(+) GGGCAC/TGATCT 3 -- ds50010--------
    rs1130449121,2
    C,F--144391249(+) ACGATA/CTCGGC 3 -- ds50011Minor allele frequency- C:0.00WA 2
    rs1859107421,2
    --144391252(+) ATCTCA/GGCTCA 3 -- ds50010--------
    rs1919137261,2
    --144391271(+) TCCGCC/TTCCCG 3 -- ds50010--------
    rs1829660081,2
    --144391328(+) CAGGCA/GCCCGC 3 -- ds50010--------
    rs1884554051,2
    C--144391331(+) GCGCCC/TGCCAC 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for TOP1MT (144386554 - 144442149 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TOP1MT (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738000CNV Deletion23290073
    esv2737992CNV Deletion23290073
    esv2147503CNV Deletion18987734
    esv2737993CNV Deletion23290073
    esv2741638CNV Deletion23290073
    esv1002171CNV Deletion20482838
    dgv1292e201CNV Deletion23290073
    esv2737998CNV Deletion23290073
    esv2737997CNV Deletion23290073
    esv2737996CNV Deletion23290073

    Human Gene Mutation Database (HGMD): TOP1MT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOP1MT
    DNA2.0 Custom Variant and Variant Library Synthesis for TOP1MT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606387    OMIM disorders: --

    5 diseases for TOP1MT:    
    About MalaCards
    mitochondrial disorders    intrahepatic cholangiocarcinoma    cholangiocarcinoma    esophagitis
    adenocarcinoma


    TOP1MT for disorders           About GeneDecksing

    Genetic Association Database (GAD): TOP1MT
    Human Genome Epidemiology (HuGE) Navigator: TOP1MT (2 documents)

    Export disorders for TOP1MT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TOP1MT gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with TOP1MT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human mitochondrial topoisomerase I. (PubMed id 11526219)1, 2, 3, 9 Zhang H.... Pommier Y. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Immunological identification of human platelet mitochondrial DNA topoisomerase I. (PubMed id 8390858)7, 9 Kosovsky M.J. and Soslau G. (Biochim. Biophys. Acta 1993)
    5. Mitochondrial topoisomerase I sites in the regulatory D-loop region of mitochondrial DNA. (PubMed id 18826252)1, 9 Zhang H. and Pommier Y. (Biochemistry 2008)
    6. Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription. (PubMed id 23261817)1 Grierson P.M....Groden J. (Mutat. Res. 2013)
    7. Role of human topoisomerase IB on ionizing radiation induced damage. (PubMed id 23422507)1 Jahan Z....Giovanetti A. (Biochem. Biophys. Res. Commun. 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Coordinated regulation of mitochondrial topoisomerase IB with mitochondrial nuclear encoded genes and MYC. (PubMed id 21531700)1 Zoppoli G....Pommier Y. (Nucleic Acids Res. 2011)
    10. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1 Wang W.... Scharfe C. (Nucleic Acids Res. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 116447 HGNC: 29787 AceView: TOP1MT Ensembl:ENSG00000184428 euGenes: HUgn116447
    ECgene: TOP1MT H-InvDB: TOP1MT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TOP1MT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOP1MT gene:
    Search GeneIP for patents involving TOP1MT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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