• Gene id: 55775

Gene Summary

• Gene Symbol: TDP1   Gene   UCSC   Ensembl
• Gene name: tyrosyl-DNA phosphodiesterase 1
• Alternate names: tyrosyl-DNA phosphodiesterase 1, tyr-DNA phosphodiesterase 1,
• Gene location: 14q32.11 (89954922: 90044767)     Exons: 23     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also
• OMIM: 607198

Protein Summary

• Protein general information: Q9NUW8  
  • Name: Tyrosyl DNA phosphodiesterase 1 (Tyr DNA phosphodiesterase 1) (EC 3.1.4. )
  • Length: 608  
  • Mass: 68420
  • Tissue specificity: Ubiquitously expressed. Similar expression throughout the central nervous system (whole brain, amygdala, caudate nucleus, cerebellum, cerebral cortex, frontal lobe, hippocampus, medulla oblongata, occipital lobe, putamen, substantia ni
• Sequence:

  MSQEGDYGRWTISSSDESEEEKPKPDKPSTSSLLCARQGAANEPRYTCSEAQKAAHKRKISPVKFSNTDSVLPPK
  RQKSGSQEDLGWCLSSSDDELQPEMPQKQAEKVVIKKEKDISAPNDGTAQRTENHGAPACHRLKEEEDEYETSGE
  GQDIWDMLDKGNPFQFYLTRVSGVKPKYNSGALHIKDILSPLFGTLVSSAQFNYCFDVDWLVKQYPPEFRKKPIL
  LVHGDKREAKAHLHAQAKPYENISLCQAKLDIAFGTHHTKMMLLLYEEGLRVVIHTSNLIHADWHQKTQGIWLSP
  LYPRIADGTHKSGESPTHFKADLISYLMAYNAPSLKEWIDVIHKHDLSETNVYLIGSTPGRFQGSQKDNWGHFRL
  KKLLKDHASSMPNAESWPVVGQFSSVGSLGADESKWLCSEFKESMLTLGKESKTPGKSSVPLYLIYPSVENVRTS
  LEGYPAGGSLPYSIQTAEKQNWLHSYFHKWSAETSGRSNAMPHIKTYMRPSPDFSKIAWFLVTSANLSKAAWGAL
  EKNGTQLMIRSYELGVLFLPSAFGLDSFKVKQKFFAGSQEPMATFPVPYDLPPELYGSKDRPWIWNIPYVKAPDT
  HGNMWVPS

• Structural information:
  • Interpro: IPR010347  IPR027415  
  • PDB: 1JY1 1MU7 1MU9 1NOP 1QZQ 1RFF 1RFI 1RG1 1RG2 1RGT 1RGU 1RH0 5NW9 5NWA 6DHU 6DIE 6DIH 6DIM 6DJD 6DJE 6DJF 6DJG 6DJH 6DJI 6DJJ 6MJ5 6MYZ 6MZ0 6N0D 6N0N 6N0O 6N0R 6N17 6N19
  • PDBsum: 1JY1 1MU7 1MU9 1NOP 1QZQ 1RFF 1RFI 1RG1 1RG2 1RGT 1RGU 1RH0 5NW9 5NWA 6DHU 6DIE 6DIH 6DIM 6DJD 6DJE 6DJF 6DJG 6DJH 6DJI 6DJJ 6MJ5 6MYZ 6MZ0 6N0D 6N0N 6N0O 6N0R 6N17 6N19
  • STRING: ENSP00000337353
• Other Databases: GeneCards:  TDP1  Malacards:  TDP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity	IBA	molecular function
GO:0006302	double-strand break repair	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0000012	single strand break repair	IBA	biological process
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity	IDA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity	IDA	molecular function
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0000012	single strand break repair	IDA	biological process
GO:0006281	DNA repair	IDA	biological process
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity	IDA	molecular function
GO:0006302	double-strand break repair	IDA	biological process
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000012	single strand break repair	IMP	biological process

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray