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TDP1

From Wikipedia, the free encyclopedia
TDP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTDP1, tyrosyl-DNA phosphodiesterase 1
External IDsOMIM: 607198; MGI: 1920036; HomoloGene: 5424; GeneCards: TDP1; OMA:TDP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 12: 99.88 – 99.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000042088Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021177Ensembl, 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.
  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.
  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.
  7. ^ a b "Entrez Gene: TDP1 tyrosyl-DNA phosphodiesterase 1".

Further reading

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