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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TOP1MT Gene

protein-coding   GIFtS: 56
GCID: GC08M144391

topoisomerase (DNA) I, mitochondrial
 Explore 6 diseases affiliated with
TOP1MT via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TOP1MT    

Aliases
for TOP1MT gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for TOP1MT gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TOP1MT:
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)

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)




Genomic Views
for TOP1MT gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences 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 plasmid: TOP1MT promoter sequence
   Search SABiosciences Chromatin IP Primers for TOP1MT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TOP1MT gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Mitochondrion
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q969P6

    • 4/7 DME Specific Peptides for TOP1MT (Q969P6) (see all 7)
     LRAGNEK  ADTVGCC  VAILCNHQ  KNLQLFMENK 

    TOP1MT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
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    Uscn Proteins for TOP1MT

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005694chromosome ----
    GO:0005730NOT nucleolus IBA--
    GO:0005739mitochondrion IDA--
    GO:0031298NOT replication fork protection complex IBA--
    GO:0042645mitochondrial nucleoid IDA18063578


    TOP1MT for ontologies           About GeneDecksing



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    Uscn Antibodies for TOP1MT
    Search ThermoFisher Antibodies for TOP1MT

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    Uscn ELISAs and CLIAs for TOP1MT

    Protein Domains /
    Families
    for TOP1MT gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TOP1MT for domains           About GeneDecksing

    5/12 InterPro domains/families (see all 12):
     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 families:
    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


    Function
    for TOP1MT gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    Catalytic activity: ATP-independent breakage of single-stranded DNA, followed by passage and rejoining

    Enzyme Number (IUBMB): EC 5.99.1.21 2

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for TOP1MT

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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


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

    Animal Models:
         Mouse knock-out Top1mttm1Hlzh for TOP1MT
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Top1mt):
     cellular  homeostasis/metabolism  liver/biliary system 

    TOP1MT for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TOP1MT gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOP1MT

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

    5/31 Interacting proteins for TOP1MT (ENSP000003288354) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOP2AENSP000004115324STRING: ENSP00000411532
    UBCENSP000003448184STRING: ENSP00000344818
    MRE11AENSP000003258634STRING: ENSP00000325863
    FEN1ENSP000003054804STRING: ENSP00000305480
    PPANENSP000002531074STRING: ENSP00000253107
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for TOP1MT gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TOP1MT available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CPT 11DNA topoisomerase I inhibitor; antitumor[100286-90-6]
    SN 38DNA topoisomerase I inhibitor; antitumor[86639-52-3]
    CamptothecinDNA topoisomerase inhibitor[7689-03-4]

    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
    IrinotecanIrinotecan Hcl (see all 4)100286-90-6targetinhibitor15975002 19852077 15170677 17139284 9342501 11752352 17016423 15255290 16309825 16454746
    TopotecanTopotecan Hcl (see all 5)119413-54-6targetinhibitor8390858

    Search CenterWatch for drugs/clinical trials and news about TOP1MT / TOP1M 

    Transcripts
    for TOP1MT gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/19 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)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOP1MT (see all 7)
    OriGene shRNA RFP: TOP1MT
    OriGene siRNA: TOP1MT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOP1MT
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOP1MT
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOP1MT

    Additional cDNA 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 

    24/178 AceView cDNA sequences (see all 178):

    BM763016 BM718043 CR616521 NM_052963 AI570976 BE259905 CA455206 BM563287 
    BI092418 BM675050 CR623300 AL519055 BM759055 CR622914 BQ919197 BQ438202 
    BQ051034 BM767515 BM553027 BM552404 CB156447 CD674181 BX343174 BM675157 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for TOP1MT gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TOP1MT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGGAGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TOP1MT expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyPodocyte LayerPodocytesKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TOP1MT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOP1MT

    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

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    In Situ
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    Orthologs
    for TOP1MT gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TOP1MT gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Top1mt1 , 5 DNA topoisomerase 1, mitochondrial1, 5 77.1(n)1
    74.45(a)1    		   15 (34.69 cM)5
    729601  NM_028404.21  NP_082680.11 
     756570355 
    chicken
    (Gallus gallus)    		 Aves TOP1MT1 topoisomerase (DNA) I, mitochondrial 73.31(n)
    75.13(a)    		   408025  NM_001001300.1  NP_001001300.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TOP1MT6
    		 --
    		 74(a)
    		 1 ↔ 1
    		 GL343222.1(2601444-2624647)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX742887.12   -- 74.41(n)    BX742887.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii top1mt1 mitochondrial topoisomerase I 69.05(n)
    67.86(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
    		 DNA topoisomerase 1
    		 43(a)
    		 1 → many
    		 I(13292503-13296856)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G267016
    TOP1BETA6
    (see all 3)    		 DNA topoisomerase 1 beta
    (see all 3)    		 46(a)
    27(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 4(13467625-13468273)
    5(22430176-22435076)
    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
    for TOP1MT gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for TOP1MT gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1290 NCBI SNPs in TOP1MT are shown (see all 1290)     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
    rs1438042091,2
    		C--144391187(+) TTTTC-/TTTTTTTT 3 -- ds50010--------
    rs1909039701,2
    		--144391232(+) GGCTGC/GAGTGC 3 -- ds50010--------
    rs1819969131,2
    		--144391245(+) GGGCAC/TGATCT 3 -- ds50010--------
    rs1130449121,2
    		C,--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
    		--144391331(+) GCGCCC/TGCCAC 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for TOP1MT (144386554 - 144442149 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TOP1MT
         1 CNV: 30299
         3 Indels: 41825 47498 28838
    Human Gene Mutation Database (HGMD): TOP1MT

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOP1MT
    DNA2.0 Custom Variant and Variant Library Synthesis for TOP1MT

    Disorders / Diseases
    for TOP1MT gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TOP1MT for disorders           About GeneDecksing

    OMIM gene information: 606387    OMIM disorders: --

    6 diseases for TOP1MT:    About MalaCards
    dna topoisomerase i    esophagitis    adenocarcinoma    malaria
    intrahepatic cholangiocarcinoma    cholangiocarcinoma

    Human Genome Epidemiology (HuGE) Navigator: TOP1MT (2 documents)

    Export disorders for TOP1MT gene to outside databases

    Publications
    for TOP1MT gene

    (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)
    About This Section

    PubMed articles for TOP1MT gene, integrated from 9 sources (see all 35):
    (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. (2001)
    2. Immunological identification of human platelet mitoch ondrial DNA topoisomerase I. (PubMed id 8390858)7, 9 Kosovsky M.J. and Soslau G. (1993)
    3. Mitochondrial topoisomerase I sites in the regulatory D-loop region of mitochondrial DNA. (PubMed id 18826252)1, 9 Zhang H. and Pommier Y. (2008)
    4. Coordinated regulation of mitochondrial topoisomerase IB with mitochondrial nuclear encoded genes and MYC. (PubMed id 21531700)1 Zoppoli G....Pommier Y. (2011)
    5. Irinotecan and its active metabolite, SN-38: review o f bioanalytical methods and recent update from clinical pharmacology perspectiv es. (PubMed id 19852077)7 Ramesh M....Srinivas N.R. (2010)
    6. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1 Liu C.Y....Christiani D.C. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1 Wang W....Scharfe C. (2010)
    9. Adaptation of topoisomerase I paralogs to nuclear and mitochondrial DNA. (PubMed id 19720733)1 Dalla Rosa I....Christensen M.O. (2009)
    10. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (2008)

    External Searches for TOP1MT gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TOP1MT gene

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

    Other Databases showing TOP1MT gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TOP1MT gene

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

    Intellectual Property
    for TOP1MT gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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