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). [provided by RefSeq, Aug 2016]
GeneCards Summary for TDP1 Gene
TDP1 (Tyrosyl-DNA Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with TDP1 include Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy and Spinocerebellar Ataxia Type 1 With Axonal Neuropathy. Among its related pathways are DNA Double-Strand Break Repair and DNA Damage. Gene Ontology (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.