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Description for Protein TDP1

tyrosyl-DNA phosphodiesterase 1
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.1.4.-
KEGG - Orthology:
K10862
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
FLJ11090; SCAN1; EC 3.1.4; Tyr-DNA phosphodiesterase 1
Approved Symbol:
TDP1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 14
Human (de-) phosphorylation sites: 14; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06226 Entrez Gene ID: 55775 OMIM ID: 607198 Swissprot Accession: B3KN41; Q9NUW8;