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Aliases for TOP1MT Gene

Aliases for TOP1MT Gene

  • Topoisomerase (DNA) I, Mitochondrial 2 3
  • EC 5.99.1.2 4 63
  • 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. Diseases associated with TOP1MT include hemorrhagic thrombocythemia. 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 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).

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Divalent metal ions (calcium or magnesium).;
    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

Proteomics data for TOP1MT Gene at MOPED

Selected DME Specific Peptides for TOP1MT Gene

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 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).

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:0003917 DNA topoisomerase type I activity IBA --
GO:0003918 DNA topoisomerase type II (ATP-hydrolyzing) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOP1MT

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for TOP1MT Gene COMPARTMENTS Subcellular localization image for TOP1MT gene
Compartment Confidence
mitochondrion 4
nucleus 4

Gene Ontology (GO) - Cellular Components for TOP1MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005694 chromosome --
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 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

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

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 1013
Topotecan Approved, Investigational Pharma inhibitor, Biomarker, Target TOPO I inhibitor, Topoisomerase 1 Inhibitors 326
Campostar Approved June 1996 Pharma 0
Hycamtin Approved October 2007/Approved May 1996 Pharma 0
LE-SN38 Investigational Pharma 0
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOP1MT

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 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, MOPED, and MaxQB for TOP1MT Gene



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

Protein tissue co-expression partners for TOP1MT Gene

- Elite partner

Primer Products

In Situ Assay 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
mouse
(Mus musculus)
Mammalia Top1mt 35
  • 78.07 (n)
  • 75.84 (a)
Top1mt 16
Top1mt 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOP1MT 35
  • 98.95 (n)
  • 98.84 (a)
TOP1MT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Top1mt 35
  • 78.49 (n)
  • 76.82 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 23 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TOP1MT 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOP1MT 35
  • 73.56 (n)
  • 75.34 (a)
TOP1MT 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOP1MT 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia top1mt 35
  • 73.93 (n)
  • 74.82 (a)
zebrafish
(Danio rerio)
Actinopterygii top1mt 35
  • 67.76 (n)
  • 66.09 (a)
CABZ01090980.1 36
  • 31 (a)
OneToMany
top1mt 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Top1 37
  • 62 (a)
Top1 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea top-1 36
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOP1 36
  • 35 (a)
OneToMany
TOP1 38
barley
(Hordeum vulgare)
Liliopsida Hv.6555 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8887 36
  • 54 (a)
OneToMany
Species with no ortholog for TOP1MT:
  • 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 MAF
rs724037 -- 143,319,676(-) AGCAT(A/C)GATGC intron-variant
rs744113 -- 143,333,861(-) GCCTG(C/T)GCTTG intron-variant
rs901773 -- 143,336,431(+) tagaa(A/G)gaaac intron-variant, upstream-variant-2KB
rs1017942 -- 143,356,301(+) GATGG(A/G)CAAGC intron-variant
rs1017943 -- 143,356,346(+) CACCC(C/T)ACACA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7920n71 CNV Loss 21882294
dgv7921n71 CNV Loss 21882294
dgv7922n71 CNV Loss 21882294
nsv891669 CNV Loss 21882294
nsv891671 CNV Loss 21882294
nsv470247 CNV Loss 18288195
nsv891673 CNV Loss 21882294
nsv891674 CNV Loss 21882294
esv2737992 CNV Deletion 23290073
esv2147503 CNV Deletion 18987734
esv2737993 CNV Deletion 23290073
esv3543 CNV Deletion 18987735
esv1002171 CNV Deletion 20482838
esv1306243 CNV Deletion 17803354
esv1001481 CNV Deletion 20482838
esv2737994 CNV Deletion 23290073
nsv891675 CNV Loss 21882294
esv2737996 CNV Deletion 23290073
esv1540362 CNV Insertion 17803354
esv1753050 CNV Insertion 17803354
esv1662735 CNV Insertion 17803354
esv2737997 CNV Deletion 23290073
esv2741638 CNV Deletion 23290073
esv2737998 CNV Deletion 23290073
esv2737999 CNV Deletion 23290073
esv2738000 CNV Deletion 23290073
dgv1292e201 CNV Deletion 23290073
nsv891676 CNV Loss 21882294
nsv891677 CNV Loss 21882294
nsv891678 CNV Gain 21882294

Variation tolerance for TOP1MT Gene

Residual Variation Intolerance Score: 93.67% 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

HapMap Linkage Disequilibrium report
TOP1MT
Human Gene Mutation Database (HGMD)
TOP1MT

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

Disorders for TOP1MT Gene

MalaCards: The human disease database

(1) MalaCards diseases for TOP1MT Gene - From: DISEASES

Disorder Aliases PubMed IDs
hemorrhagic thrombocythemia
  • essential thrombocythaemia
- elite association

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

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

Publications for TOP1MT Gene

  1. Immunological identification of human platelet mitochondrial DNA topoisomerase I. (PMID: 8390858) Kosovsky M.J. … Soslau G. (Biochim. Biophys. Acta 1993) 23 25 26 67
  2. Human mitochondrial topoisomerase I. (PMID: 11526219) Zhang H. … Pommier Y. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 23 67
  3. Irinotecan and its active metabolite, SN-38: review of bioanalytical methods and recent update from clinical pharmacology perspectives. (PMID: 19852077) Ramesh M. … Srinivas N.R. (Biomed. Chromatogr. 2010) 25 26
  4. [Comparative analysis of mitochondrial and nuclear DNA topoisomerase I from maize]. (PMID: 18389624) Tarasenko V.I. … Konstantinov I.u.M. (Mol. Biol. (Mosk.) 2008) 23 67
  5. Mitochondrial topoisomerase I sites in the regulatory D-loop region of mitochondrial DNA. (PMID: 18826252) Zhang H. … Pommier Y. (Biochemistry 2008) 23 67

Products for TOP1MT Gene

Sources for TOP1MT Gene

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