• Gene id: 7150

Gene Summary

• Gene Symbol: TOP1   Gene   UCSC   Ensembl
• Aliases: TOPI
• Gene name: DNA topoisomerase I
• Alternate names: DNA topoisomerase 1, topoisomerase (DNA) I, type I DNA topoisomerase,
• Gene location: 20q12 (41028817: 41124486)     Exons: 21     NC_000020.11
• Gene summary(Entrez): This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one a
• OMIM: 126420

Protein Summary

• Protein general information: P11387  
  • Name: DNA topoisomerase 1 (EC 5.99.1.2) (DNA topoisomerase I)
  • Length: 765  
  • Mass: 90,726
• Sequence:

  MSGDHLHNDSQIEADFRLNDSHKHKDKHKDREHRHKEHKKEKDREKSKHSNSEHKDSEKKHKEKEKTKHKDGSSE
  KHKDKHKDRDKEKRKEEKVRASGDAKIKKEKENGFSSPPQIKDEPEDDGYFVPPKEDIKPLKRPRDEDDADYKPK
  KIKTEDTKKEKKRKLEEEEDGKLKKPKNKDKDKKVPEPDNKKKKPKKEEEQKWKWWEEERYPEGIKWKFLEHKGP
  VFAPPYEPLPENVKFYYDGKVMKLSPKAEEVATFFAKMLDHEYTTKEIFRKNFFKDWRKEMTNEEKNIITNLSKC
  DFTQMSQYFKAQTEARKQMSKEEKLKIKEENEKLLKEYGFCIMDNHKERIANFKIEPPGLFRGRGNHPKMGMLKR
  RIMPEDIIINCSKDAKVPSPPPGHKWKEVRHDNKVTWLVSWTENIQGSIKYIMLNPSSRIKGEKDWQKYETARRL
  KKCVDKIRNQYREDWKSKEMKVRQRAVALYFIDKLALRAGNEKEEGETADTVGCCSLRVEHINLHPELDGQEYVV
  EFDFLGKDSIRYYNKVPVEKRVFKNLQLFMENKQPEDDLFDRLNTGILNKHLQDLMEGLTAKVFRTYNASITLQQ
  QLKELTAPDENIPAKILSYNRANRAVAILCNHQRAPPKTFEKSMMNLQTKIDAKKEQLADARRDLKSAKADAKVM
  KDAKTKKVVESKKKAVQRLEEQLMKLEVQATDREENKQIALGTSKLNYLDPRITVAWCKKWGVPIEKIYNKTQRE
  KFAWAIDMADEDYEF

• Structural information:
  • Interpro: IPR011010  IPR013034  IPR013030  IPR001631  IPR018521   IPR025834  IPR014711  IPR014727  IPR013500  IPR008336  IPR036202  IPR013499  
  • Prosite: PS00176
  • CDD: cd00659
  • PDB: 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8
  • PDBsum: 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8
  • DIP: 36356
  • STRING: ENSP00000354522
• Other Databases: GeneCards:  TOP1  Malacards:  TOP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000932	P-body	IDA	cellular component
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003917	DNA topoisomerase type I activity	IDA	molecular function
GO:0003917	DNA topoisomerase type I activity	IMP	molecular function
GO:0003918	DNA topoisomerase type II (ATP-hydrolyzing) activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006260	DNA replication	IBA	biological process
GO:0006265	DNA topological change	IDA	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0007623	circadian rhythm	IEP	biological process
GO:0012501	programmed cell death	NAS	biological process
GO:0016032	viral process	IEA	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0031298	replication fork protection complex	IBA	cellular component
GO:0032922	circadian regulation of gene expression	IMP	biological process
GO:0040016	embryonic cleavage	IEA	biological process
GO:0042493	response to drug	IEP	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0000932	P-body	IDA	cellular component
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003916	DNA topoisomerase activity	IEA	molecular function
GO:0003917	DNA topoisomerase type I activity	IEA	molecular function
GO:0003917	DNA topoisomerase type I activity	IEA	molecular function
GO:0003917	DNA topoisomerase type I activity	IEA	molecular function
GO:0003917	DNA topoisomerase type I activity	IDA	molecular function
GO:0003917	DNA topoisomerase type I activity	IMP	molecular function
GO:0003918	DNA topoisomerase type II (ATP-hydrolyzing) activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006260	DNA replication	IBA	biological process
GO:0006265	DNA topological change	IEA	biological process
GO:0006265	DNA topological change	IEA	biological process
GO:0006265	DNA topological change	IDA	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0007623	circadian rhythm	IEP	biological process
GO:0012501	programmed cell death	NAS	biological process
GO:0016032	viral process	IEA	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0016925	protein sumoylation	TAS	biological process
GO:0031298	replication fork protection complex	IBA	cellular component
GO:0032922	circadian regulation of gene expression	IMP	biological process
GO:0040016	embryonic cleavage	IEA	biological process
GO:0042493	response to drug	IEP	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0000932	P-body	IDA	cellular component
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003917	DNA topoisomerase type I activity	IDA	molecular function
GO:0003917	DNA topoisomerase type I activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006260	DNA replication	IBA	biological process
GO:0006265	DNA topological change	IDA	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0007623	circadian rhythm	IEP	biological process
GO:0012501	programmed cell death	NAS	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0031298	replication fork protection complex	IBA	cellular component
GO:0032922	circadian regulation of gene expression	IMP	biological process
GO:0042493	response to drug	IEP	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0000228	nuclear chromosome	IDA	cellular component

Diseases

Associated diseases	References
Polycystic ovary syndrome (PCOS)	INFBASE: 22052386
Varicocele	MIK: 2847665
Male infertility	MIK: 2847665
Varicocele	MIK: 2847665
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
2847665	Male infertility, varicocele			37 infertile men with varicocele	Male infertility	Topoisomerase I
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)