Aliases for TDP1 Gene
External Ids for TDP1 Gene
Previous GeneCards Identifiers for TDP1 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for TDP1 Gene
TDP1 (Tyrosyl-DNA Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with TDP1 include spinocerebellar ataxia type 1 with axonal neuropathy and spinocerebellar ataxia, autosomal recessive with axonal neuropathy. Among its related pathways are DNA Double-Strand Break Repair and G2/M DNA damage checkpoint. GO annotations related to this gene include double-stranded DNA binding and phosphoric diester hydrolase activity.
UniProtKB/Swiss-Prot for TDP1 Gene
DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3-phosphodiester bond, giving rise to DNA with a free 3 phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3-phosphoglycolates on protruding 3 ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3exonuclease activity and can remove a single nucleoside from the 3end of DNA and RNA molecules with 3hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a 3phosphate.