TDP1

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)
End	90,044,768 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	99,955,219 bp
RNA expression pattern
	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
	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
	55775
	104884
	ENSG00000042088
	ENSMUSG00000021177
	Q9NUW8
	Q8BJ37
	NM_001008744; NM_018319; NM_001330205
	NM_028354
	NP_001008744; NP_001317134; NP_060789
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000042088 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021177 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Davies DR, Interthal H, Champoux JJ, Hol WG (Feb 2002). "The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1". Structure. 10 (2): 237–48. doi:10.1016/S0969-2126(02)00707-4. PMID 11839309.
^ Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (Sep 2002). "Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy". Nat Genet. 32 (2): 267–72. doi:10.1038/ng987. PMID 12244316. S2CID 22725759.
^ ^a ^b "Entrez Gene: TDP1 tyrosyl-DNA phosphodiesterase 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000042088 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021177 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11839309-5] Davies DR, Interthal H, Champoux JJ, Hol WG (Feb 2002). "The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1". Structure. 10 (2): 237–48. doi:10.1016/S0969-2126(02)00707-4. PMID 11839309.

[pmid12244316-6] Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (Sep 2002). "Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy". Nat Genet. 32 (2): 267–72. doi:10.1038/ng987. PMID 12244316. S2CID 22725759.

[entrez-7] "Entrez Gene: TDP1 tyrosyl-DNA phosphodiesterase 1".

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