TDP1

Tyrosyl-DNA phosphodiesterase 1
File:PBB Protein TDP1 image.jpg PDB rendering based on 1jy1.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1jy1​, 1mu7​, 1mu9​, 1nop​, 1qzq​, 1rff​, 1rfi​, 1rg1​, 1rg2​, 1rgt​, 1rgu​, 1rh0​
Identifiers
Symbols	TDP1 ; FLJ11090; MGC104252
External IDs	Template:OMIM5 Template:MGI HomoloGene: 5424
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE TDP1 219715 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Tyrosyl-DNA phosphodiesterase 1, also known as TDP1, is a human gene.

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 remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform.

Further reading

• El-Khamisy SF, Caldecott KW (2007). "TDP1-dependent DNA single-strand break repair and neurodegeneration". Mutagenesis. 21 (4): 219–24. doi:10.1093/mutage/gel024. PMID 16775218.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Pouliot JJ, Yao KC, Robertson CA, Nash HA (1999). "Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes". Science. 286 (5439): 552–5. PMID 10521354.CS1 maint: Multiple names: authors list (link)
• Interthal H, Pouliot JJ, Champoux JJ (2001). "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily". Proc. Natl. Acad. Sci. U.S.A. 98 (21): 12009–14. doi:10.1073/pnas.211429198. PMID 11572945.CS1 maint: Multiple names: authors list (link)
• Davies DR, Interthal H, Champoux JJ, Hol WG (2002). "The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1". Structure. 10 (2): 237–48. PMID 11839309.CS1 maint: Multiple names: authors list (link)
• Inamdar KV, Pouliot JJ, Zhou T; et al. (2002). "Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1". J. Biol. Chem. 277 (30): 27162–8. doi:10.1074/jbc.M204688200. PMID 12023295.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takashima H, Boerkoel CF, John J; et al. (2002). "Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy". Nat. Genet. 32 (2): 267–72. doi:10.1038/ng987. PMID 12244316.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davies DR, Interthal H, Champoux JJ, Hol WG (2003). "Insights into substrate binding and catalytic mechanism of human tyrosyl-DNA phosphodiesterase (Tdp1) from vanadate and tungstate-inhibited structures". J. Mol. Biol. 324 (5): 917–32. PMID 12470949.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Heilig R, Eckenberg R, Petit JL; et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davies DR, Interthal H, Champoux JJ, Hol WG (2003). "Crystal structure of a transition state mimic for Tdp1 assembled from vanadate, DNA, and a topoisomerase I-derived peptide". Chem. Biol. 10 (2): 139–47. PMID 12618186.CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davies DR, Interthal H, Champoux JJ, Hol WG (2004). "Explorations of peptide and oligonucleotide binding sites of tyrosyl-DNA phosphodiesterase using vanadate complexes". J. Med. Chem. 47 (4): 829–37. doi:10.1021/jm030487x. PMID 14761185.CS1 maint: Multiple names: authors list (link)
• Raymond AC, Rideout MC, Staker B; et al. (2004). "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues". J. Mol. Biol. 338 (5): 895–906. doi:10.1016/j.jmb.2004.03.013. PMID 15111055.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang M, Kirley TL (2004). "Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change". Biochemistry. 43 (28): 9185–94. doi:10.1021/bi049565o. PMID 15248776.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Barthelmes HU, Habermeyer M, Christensen MO; et al. (2005). "TDP1 overexpression in human cells counteracts DNA damage mediated by topoisomerases I and II". J. Biol. Chem. 279 (53): 55618–25. doi:10.1074/jbc.M405042200. PMID 15494395.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhou T, Lee JW, Tatavarthi H; et al. (2005). "Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)". Nucleic Acids Res. 33 (1): 289–97. doi:10.1093/nar/gki170. PMID 15647511.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• El-Khamisy SF, Saifi GM, Weinfeld M; et al. (2005). "Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1". Nature. 434 (7029): 108–13. doi:10.1038/nature03314. PMID 15744309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Raymond AC, Staker BL, Burgin AB (2005). "Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1)". J. Biol. Chem. 280 (23): 22029–35. doi:10.1074/jbc.M502148200. PMID 15811850.CS1 maint: Multiple names: authors list (link)