TDP1

Tyrosyl-DNA phosphodiesterase 1 is an enzyme that in humans is encoded by the TDP1 gene.^[5][6][7]

TDP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JY1, 1MU7, 1MU9, 1NOP, 1QZQ, 1RFF, 1RFI, 1RG1, 1RG2, 1RGT, 1RGU, 1RH0
Identifiers
Aliases	TDP1, tyrosyl-DNA phosphodiesterase 1
External IDs	OMIM: 607198; MGI: 1920036; HomoloGene: 5424; GeneCards: TDP1; OMA:TDP1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.11 Start 89,954,939 bp[1] End 90,044,768 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 99,884,517 bp[2] End 99,955,219 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte right testis left testis testicle ventricular zone bone marrow cells gonad sperm embryo Top expressed in seminiferous tubule ventricular zone yolk sac secondary oocyte epiblast zygote embryo ganglionic eminence tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphoric diester hydrolase activity single-stranded DNA binding nuclease activity double-stranded DNA binding 3'-tyrosyl-DNA phosphodiesterase activity exonuclease activity protein binding hydrolase activity Cellular component cytoplasm plasma membrane intracellular membrane-bounded organelle nucleus Biological process single strand break repair double-strand break repair DNA repair nucleic acid phosphodiester bond hydrolysis cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55775 104884 Ensembl ENSG00000042088 ENSMUSG00000021177 UniProt Q9NUW8 Q8BJ37 RefSeq (mRNA) NM_001008744 NM_018319 NM_001330205 NM_028354 RefSeq (protein) NP_001008744 NP_001317134 NP_060789 n/a Location (UCSC) Chr 14: 89.95 – 90.04 Mb Chr 12: 99.88 – 99.96 Mb PubMed search [3] [4]
Wikidata
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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 Type I topoisomerase 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.^[7]