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FLASH GENE
Symbol TOP1MT contributors: mct - updated : 30-11-2015
HGNC name topoisomerase (DNA) I, mitochondrial
HGNC id 29787
DNA
TYPE functioning gene
STRUCTURE 50.65 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 1904 - 503 - 2007 17161897
15 - 2045 - 503 - 2007 17161897
14 - 1953 - 601 - 2007 17161897
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Nervousbrain   highly
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver highly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to Drosophila top1
ortholog to murine Top1mt
ortholog to rattus top1mt
Homologene
FAMILY eucaryotic type I topoisomerase family
CATEGORY enzyme , DNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,nucleus
text
  • three different topoisomerases have been identified in mitochondria: TOP1MT, TOP3A and a truncated form of TOP2B
  • basic FUNCTION
  • DNA topoisomerase, type IB, DNA single strand break, binding covalently to the 3' end of the break
  • controling and altering the topologic states of DNA during transcription
  • implicated for mitochondrial integrity and energy metabolism
  • relaxes mitochondrial DNA (mtDNA) supercoiling by introducing transient cleavage complexes wherein the broken DNA strand swivels around the intact strand
  • is required for normal mtDNA homeostasis and for linking mtDNA expansion with hepatocyte proliferation
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, replication
    nucleotide, recombination
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to single strand
    RNA
    small molecule metal binding,
  • calcium Ca2+
  • magnesium Mg2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Top1mt -/- murine embryonic fibroblasts (MEF) exhibit dysfunctional mitochondrial respiration, which leads decreased ATP production and compensation by increased glycolysis and fatty acid oxidation