tyrosyl-DNA phosphodiesterase 1; tyr-DNA phosphodiesterase 1 (TDP1)

Function

• repair of covalent topoisomerase 1-DNA complexes
• modulation of topological changes induced during DNA replication & transcription
• efficient repair of stalled toposomerase 1-DNA complexes
  • catalyzes the hydrolysis of the phosphodiester bond between Tyr & DNA 3'phosphate
• repair of free-radical mediated DNA double-strand breaks
  • removes glycolate from single-stranded DNA containing a 3'-phosphoglycolate

Structure

• monomer
• consists of 2 similar domains that are related by a pseudo-2-fold axis of symmetry

Compartment

nuclear

Expression

• ubiquitously expressed
• similar expression throughout the central nervous system

Pathology

• defects in TDP1 are the cause of: spinocerebellar ataxia with axonal neuropathy (SCAN1)

More general terms

• phosphodiesterase
• nuclear protein

Additional terms

• spinocerebellar ataxia with axonal neuropathy (SCAN1)
• topoisomerase-1 (TOP1)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55775
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55775
• OMIM: https://mirror.omim.org/entry/607198
• OMIM: https://mirror.omim.org/entry/607250
• UniProt: http://www.uniprot.org/uniprot/Q9NUW8.html