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TDP1tyrosyl-DNA phosphodiesterase 1 |
Known also as: FLJ11090; MGC104252;
| NCBI Gene ID: | 55775 |
| NCBI Ensembl Id: | ENSG00000042088 |
| MIM Id: (from NCBI OMIM database) | 607198 |
| Species: | Homo sapiens |
| 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. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW | Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. | Nature March 3, 2005 |
| Raymond AC, Staker BL, Burgin AB Jr | Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1). | J Biol Chem June 10, 2005 |
| Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF | Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? | EMBO J Nov. 14, 2007 |
Last modification of this entry: Oct. 6, 2010.
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