human TDP1 shRNA silencing AAV

tyr-DNA phosphodiesterase 1; tyrosyl-DNA phosphodiesterase 1

Tyrosyl-DNA phosphodiesterase 1 (TDP1) is an enzyme that participates in the repair of DNA strand breaks associated with topoisomerase 1 (Top1) complexes. TDP1 catalyzes the removal of Top1 from DNA via the hydrolysis of the phosphodiester bond between the tyrosine residue of Top1 and the 3’ phosphate of DNA. Removal of Top1 is then followed by DNA repair. TDP1 has been proposed to play more general roles in DNA damage repair independent of the Top1 complex. TDP1 has been shown to associate with DNA ligase IIIalpha, a component of the DNA single-stranded break repair (SSBR) machinery. It is also able to remove glycolate from 3’-phosphoglycolate termini of double-stranded breaks and a variety of other 3’- adducts. Defects in TDP1 are associated with spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1), a disease associated with peripheral axonal motor and sensory neuropathy and distal muscular atrophy.

TDP1 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.

55775

tyrosyl-DNA phosphodiesterase 1

tyrosyl-DNA phosphodiesterase 1

TDP1

HGNC:18884

9606.0

1770

1770 bp

Tyrosyl-DNA phosphodiesterase 1

NM_018319

NM_018319, NM_001330205, NM_001008744, BC107877, BC015474, BC006083,

Apoptosis,DNA Damage/Repair,Neurobiology,Neurodegeneration

cell_biology,genetics,transcription_translation,neurobiology

human

Tyrosyl-DNA phosphodiesterase 1 (TDP1) is an enzyme that participates in the repair of DNA strand breaks associated with topoisomerase 1 (Top1) complexes. TDP1 catalyzes the removal of Top1 from DNA via the hydrolysis of the phosphodiester bond between the tyrosine residue of Top1 and the 3’ phosphate of DNA. Removal of Top1 is then followed by DNA repair. TDP1 has been proposed to play more general roles in DNA damage repair independent of the Top1 complex. TDP1 has been shown to associate with DNA ligase IIIalpha, a component of the DNA single-stranded break repair (SSBR) machinery. It is also able to remove glycolate from 3’-phosphoglycolate termini of double-stranded breaks and a variety of other 3’- adducts. Defects in TDP1 are associated with spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1), a disease associated with peripheral axonal motor and sensory neuropathy and distal muscular atrophy.

Hs.209945

Q9NUW8