• Gene id: 116447

Gene Summary

• Gene Symbol: TOP1MT   Gene   UCSC   Ensembl
• Gene name: DNA topoisomerase I mitochondrial
• Alternate names: DNA topoisomerase I, mitochondrial, mitochondrial topoisomerase IB, topoisomerase (DNA) I, mitochondrial,
• Gene location: 8q24.3 (143359976: 143309323)     Exons: 16     NC_000008.11
• Gene summary(Entrez): 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 gen
• OMIM: 612855

Protein Summary

• Protein general information: Q969P6  
  • Name: DNA topoisomerase I, mitochondrial (TOP1mt) (EC 5.6.2.1)
  • Length: 601  
  • Mass: 69872
  • Tissue specificity: Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver. {ECO
• Sequence:

  MRVVRLLRLRAALTLLGEVPRRPASRGVPGSRRTQKGSGARWEKEKHEDGVKWRQLEHKGPYFAPPYEPLPDGVR
  FFYEGRPVRLSVAAEEVATFYGRMLDHEYTTKEVFRKNFFNDWRKEMAVEEREVIKSLDKCDFTEIHRYFVDKAA
  ARKVLSREEKQKLKEEAEKLQQEFGYCILDGHQEKIGNFKIEPPGLFRGRGDHPKMGMLKRRITPEDVVINCSRD
  SKIPEPPAGHQWKEVRSDNTVTWLAAWTESVQNSIKYIMLNPCSKLKGETAWQKFETARRLRGFVDEIRSQYRAD
  WKSREMKTRQRAVALYFIDKLALRAGNEKEDGEAADTVGCCSLRVEHVQLHPEADGCQHVVEFDFLGKDCIRYYN
  RVPVEKPVYKNLQLFMENKDPRDDLFDRLTTTSLNKHLQELMDGLTAKVFRTYNASITLQEQLRALTRAEDSIAA
  KILSYNRANRVVAILCNHQRATPSTFEKSMQNLQTKIQAKKEQVAEARAELRRARAEHKAQGDGKSRSVLEKKRR
  LLEKLQEQLAQLSVQATDKEENKQVALGTSKLNYLDPRISIAWCKRFRVPVEKIYSKTQRERFAWALAMAGEDFE
  F

• Structural information:
  • Interpro: IPR011010  IPR013034  IPR013030  IPR001631  IPR018521   IPR025834  IPR014711  IPR014727  IPR013500  IPR008336  IPR036202  IPR013499  
  • Prosite: PS00176
  • CDD: cd00659
  • STRING: ENSP00000328835
• Other Databases: GeneCards:  TOP1MT  Malacards:  TOP1MT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006265	DNA topological change	IBA	biological process
GO:0003917	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IBA	molecular function
GO:0006260	DNA replication	IBA	biological process
GO:0042645	mitochondrial nucleoid	IBA	cellular component
GO:0003917	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006265	DNA topological change	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003916	DNA topoisomerase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003917	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IEA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray