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Aliases for TOP1MT Gene

Aliases for TOP1MT Gene

  • Topoisomerase (DNA) I, Mitochondrial 2 3 5
  • EC 5.99.1.2 4 61
  • TOP1mt 4

External Ids for TOP1MT Gene

Previous GeneCards Identifiers for TOP1MT Gene

  • GC08M142583
  • GC08U900001
  • GC08M144166
  • GC08M144496
  • GC08M144463
  • GC08M144391
  • GC08M139629

Summaries for TOP1MT Gene

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. 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 for TOP1MT Gene

  • 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 rotates around the intact phosphodiester bond on the opposing 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOP1MT Gene

Genomics for TOP1MT Gene

Regulatory Elements for TOP1MT Gene

Enhancers for TOP1MT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F143360 1.4 FANTOM5 Ensembl ENCODE 18.9 -1.1 -1123 1.4 HDAC1 CTCF USF1 SAP130 CREB3L1 SIN3A ZIC2 TEAD3 FOSL1 HIC1 TOP1MT RHPN1 PIR36498
GH08F143333 1.1 ENCODE 20.5 +25.2 25245 2.2 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 KLF13 SP3 TOP1MT RHPN1 ENSG00000253931 MAFA-AS1 LY6H MINCR GC08M143337 ENSG00000272172
GH08F143354 1 Ensembl ENCODE 19.8 +4.4 4379 2.0 ELF3 PKNOX1 MXI1 ZNF792 SAP130 ARID4B RAD21 RARA TEAD3 ZNF121 TOP1MT RHPN1 ENSG00000253931 MAFA-AS1 ZNF696 RNU6-220P
GH08F143337 1.1 Ensembl ENCODE 17.8 +21.8 21773 2.4 HDAC1 RARA GATA2 CREM SMARCA5 CEBPB KLF16 SMARCA4 IKZF1 CEBPA TOP1MT RHPN1 GC08M143337 GC08P143351
GH08F143021 1.9 FANTOM5 Ensembl ENCODE 10.1 +334.4 334404 8.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF416 ZNF623 LOC100133669 ENSG00000253728 ENSG00000254574 LY6D ENSG00000253715 AK3P2 SLURP1 JRK TOP1MT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOP1MT on UCSC Golden Path with GeneCards custom track

Genomic Location for TOP1MT Gene

Chromosome:
8
Start:
143,304,384 bp from pter
End:
143,359,979 bp from pter
Size:
55,596 bases
Orientation:
Minus strand

Genomic View for TOP1MT Gene

Genes around TOP1MT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOP1MT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOP1MT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOP1MT Gene

Proteins for TOP1MT Gene

  • Protein details for TOP1MT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969P6-TOP1M_HUMAN
    Recommended name:
    DNA topoisomerase I, mitochondrial
    Protein Accession:
    Q969P6
    Secondary Accessions:
    • B7ZAR5
    • E7ES89
    • Q86ST4
    • Q86V82

    Protein attributes for TOP1MT Gene

    Size:
    601 amino acids
    Molecular mass:
    69872 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH44646.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TOP1MT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOP1MT Gene

Selected DME Specific Peptides for TOP1MT Gene

Q969P6:
  • GLTAKVFRTYNAS
  • LRAGNEK
  • AKILSYNRANR
  • VAILCNHQ
  • KNLQLFMENK
  • HPKMGMLKRRI
  • ADTVGCC

Post-translational modifications for TOP1MT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TOP1MT Gene

Gene Families for TOP1MT Gene

Suggested Antigen Peptide Sequences for TOP1MT Gene

Graphical View of Domain Structure for InterPro Entry

Q969P6

UniProtKB/Swiss-Prot:

TOP1M_HUMAN :
  • Belongs to the type IB topoisomerase family.
Family:
  • Belongs to the type IB topoisomerase family.
genes like me logo Genes that share domains with TOP1MT: view

Function for TOP1MT Gene

Molecular function for TOP1MT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.
UniProtKB/Swiss-Prot 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 rotates around the intact phosphodiester bond on the opposing 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).

Enzyme Numbers (IUBMB) for TOP1MT Gene

Gene Ontology (GO) - Molecular Function for TOP1MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003916 DNA topoisomerase activity IEA --
GO:0003917 DNA topoisomerase type I activity IEA,IBA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with TOP1MT: view
genes like me logo Genes that share phenotypes with TOP1MT: view

Animal Models for TOP1MT Gene

MGI Knock Outs for TOP1MT:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TOP1MT Gene

Localization for TOP1MT Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOP1MT Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOP1MT gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for TOP1MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005694 chromosome IEA --
GO:0005730 NOT nucleolus IBA --
GO:0005739 mitochondrion IDA --
GO:0031298 NOT replication fork protection complex IBA --
genes like me logo Genes that share ontologies with TOP1MT: view

Pathways & Interactions for TOP1MT Gene

SuperPathways for TOP1MT Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOP1MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IBA --
GO:0006265 DNA topological change IEA,IBA --
GO:0006338 NOT chromatin remodeling IBA --
GO:0007059 NOT chromosome segregation IBA --
genes like me logo Genes that share ontologies with TOP1MT: view

No data available for Pathways by source and SIGNOR curated interactions for TOP1MT Gene

Drugs & Compounds for TOP1MT Gene

(14) Drugs for TOP1MT Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Irinotecan Approved, Investigational Pharma inhibitor, Biomarker, Target Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1080
Topotecan Approved, Investigational Pharma inhibitor, Biomarker, Target Topoisomerase 1 inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 339
Campostar Approved June 1996 Pharma 0
Hycamtin Approved October 2007/Approved May 1996 Pharma 0
Camptothecin Experimental Pharma Topoisomerase I inhibitor,prototypic 699

(7) ApexBio Compounds for TOP1MT Gene

Compound Action Cas Number
(S)-10-Hydroxycamptothecin 19685-09-7
Beta-Lapachone DNA topoisomerase I inhibitor,selective 4707-32-8
Camptothecin Topoisomerase I inhibitor,prototypic 7689-03-4
Idarubicin HCl Anthracycline and daunorubicin analog,topoisomerase inhibitor 57852-57-0
Irinotecan Topoisomerase I inhibitor 97682-44-5
Irinotecan HCl Trihydrate TOPO 1 inhibitor 136572-09-3
Topotecan HCl Topoisomerase 1 inhibitor 119413-54-6
genes like me logo Genes that share compounds with TOP1MT: view

Transcripts for TOP1MT Gene

Unigene Clusters for TOP1MT Gene

Topoisomerase (DNA) I, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOP1MT Gene

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:
SP6:

Relevant External Links for TOP1MT Gene

GeneLoc Exon Structure for
TOP1MT
ECgene alternative splicing isoforms for
TOP1MT

Expression for TOP1MT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOP1MT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOP1MT Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOP1MT Gene



Protein tissue co-expression partners for TOP1MT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOP1MT Gene:

TOP1MT

SOURCE GeneReport for Unigene cluster for TOP1MT Gene:

Hs.528574

mRNA Expression by UniProt/SwissProt for TOP1MT Gene:

Q969P6-TOP1M_HUMAN
Tissue specificity: Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver.
genes like me logo Genes that share expression patterns with TOP1MT: view

Primer Products

No data available for mRNA differential expression in normal tissues for TOP1MT Gene

Orthologs for TOP1MT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOP1MT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOP1MT 34 35
  • 98.95 (n)
rat
(Rattus norvegicus)
Mammalia Top1mt 34
  • 78.49 (n)
mouse
(Mus musculus)
Mammalia Top1mt 34 16 35
  • 78.07 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
-- 35
  • 23 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TOP1MT 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOP1MT 34 35
  • 73.56 (n)
lizard
(Anolis carolinensis)
Reptilia TOP1MT 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia top1mt 34
  • 73.93 (n)
zebrafish
(Danio rerio)
Actinopterygii top1mt 34 35
  • 67.76 (n)
CABZ01090980.1 35
  • 31 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Top1 36 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea top-1 35
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOP1 35 37
  • 35 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.6555 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8887 35
  • 54 (a)
OneToMany
Species where no ortholog for TOP1MT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TOP1MT Gene

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

Paralogs for TOP1MT Gene

Paralogs for TOP1MT Gene

genes like me logo Genes that share paralogs with TOP1MT: view

Variants for TOP1MT Gene

Sequence variations from dbSNP and Humsavar for TOP1MT Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10088412 -- 143,312,122(+) ccagg(A/C)gttca intron-variant
rs10088567 -- 143,309,626(+) CGAGC(A/G)TCCTC intron-variant, utr-variant-3-prime
rs10091561 -- 143,309,760(+) TAGGT(A/G)TCCAC intron-variant, reference, missense
rs10096734 -- 143,326,285(+) TGGAT(A/C/T)TCCGT reference, synonymous-codon, missense
rs10099789 -- 143,309,754(+) GTGGC(C/T)TAGGT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TOP1MT Gene

Variant ID Type Subtype PubMed ID
esv3544384 CNV deletion 23714750
esv3573029 CNV loss 25503493
esv3573030 CNV loss 25503493
esv3619106 CNV gain 21293372
esv3619107 CNV gain 21293372
esv3619108 CNV loss 21293372
nsv1016726 CNV loss 25217958
nsv1075596 CNV deletion 25765185
nsv1147797 CNV deletion 26484159
nsv470247 CNV loss 18288195
nsv472173 CNV novel sequence insertion 20440878
nsv950010 CNV deletion 24416366
nsv950012 CNV deletion 24416366
esv1659436 CNV insertion 17803354
esv1540362 CNV insertion 17803354
esv1306243 CNV deletion 17803354
esv1002171 CNV deletion 20482838
esv1001481 CNV deletion 20482838
dgv3929n106 CNV deletion 24896259
dgv1240e201 CNV deletion 23290073
esv3544383 CNV deletion 23714750
esv3543 CNV loss 18987735
esv3349116 CNV duplication 20981092
esv2741638 CNV deletion 23290073
esv2738004 CNV deletion 23290073
esv2738003 CNV deletion 23290073
esv2738002 CNV deletion 23290073
esv2738000 CNV deletion 23290073
esv2737999 CNV deletion 23290073
esv2737998 CNV deletion 23290073
esv2737997 CNV deletion 23290073
esv2737996 CNV deletion 23290073
esv2737994 CNV deletion 23290073
esv2737993 CNV deletion 23290073
esv2737992 CNV deletion 23290073
esv2678203 CNV deletion 23128226
esv2671574 CNV deletion 23128226
esv2147503 CNV deletion 18987734
esv1753050 CNV insertion 17803354
esv1662735 CNV insertion 17803354

Variation tolerance for TOP1MT Gene

Residual Variation Intolerance Score: 93.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.40; 92.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOP1MT Gene

Human Gene Mutation Database (HGMD)
TOP1MT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOP1MT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOP1MT Gene

Disorders for TOP1MT Gene

Relevant External Links for TOP1MT

Genetic Association Database (GAD)
TOP1MT
Human Genome Epidemiology (HuGE) Navigator
TOP1MT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOP1MT

No disorders were found for TOP1MT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TOP1MT Gene

Publications for TOP1MT Gene

  1. Human mitochondrial topoisomerase I. (PMID: 11526219) Zhang H. … Pommier Y. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 22 64
  2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Mitochondrial topoisomerase I sites in the regulatory D-loop region of mitochondrial DNA. (PMID: 18826252) Zhang H. … Pommier Y. (Biochemistry 2008) 3 22 64
  5. Immunological identification of human platelet mitochondrial DNA topoisomerase I. (PMID: 8390858) Kosovsky M.J. … Soslau G. (Biochim. Biophys. Acta 1993) 22 25 64

Products for TOP1MT Gene

Sources for TOP1MT Gene

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