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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TDP1
tyrosyl-DNA phosphodiesterase 1
Chromosome 14 Β· 14q32.11
NCBI Gene: 55775Ensembl: ENSG00000042088.14HGNC: HGNC:18884UniProt: B3KN41
106PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmsingle-stranded DNA bindingprotein bindingcytoplasmspinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1Spinocerebellar ataxia type 1 with axonal neuropathyneurodegenerative diseaseUveal Melanoma
✦AI Summary

TDP1 (tyrosyl-DNA phosphodiesterase 1) is a DNA repair enzyme that primarily functions to remove covalent protein-DNA adducts through hydrolysis of 3'-phosphodiester bonds 1. TDP1 excises trapped topoisomerase I complexes in both nuclear and mitochondrial compartments, and also repairs oxidative damage-induced 3'-phosphoglycolates and alkylation-induced DNA breaks 1. The enzyme coordinates with base excision repair pathway proteins including PARP1, XRCC1, and ligase III 1. TDP1 is particularly critical for transcriptional genome stability; its dysfunction causes accumulation of transcription-blocking topoisomerase I complexes that generate double-strand breaks, especially in non-replicating cells 23. Mutations in TDP1 cause SCAN1 (spinocerebellar ataxia with axonal neuropathy 1), a neurodegenerative syndrome resulting from impaired repair of transcriptional DNA breaks 3. The H493R SCAN1 mutation exhibits gain-of-function properties that paradoxically prevent backup DSB repair pathways 3. TDP1 also processes DNA-protein cross-links arising from abasic sites 4 and contributes to tolerance of topoisomerase-targeting anticancer drugs, with TDP1 variants influencing both drug toxicity and therapeutic response 5.

Sources cited
1
TDP1 excises trapped topoisomerase I and repairs 3'-phosphoglycolates and alkylation damage; coordinates with BER pathway proteins
PMID: 24856239
2
TOP1 cleavage complexes generate transcription-dependent DSBs through dual SSB processing; TDP1 deficiency enhances DSB formation
PMID: 31533039
3
SCAN1 H493R mutation causes accumulation of TOP1 cleavage complexes and transcriptional DSBs; mutant protein hampers DSB repair
PMID: 38761375
4
TDP1 repairs 3'-DNA-peptide/protein cross-links arising from abasic sites
PMID: 35349719
5
TDP1 pharmacodynamic variants influence both irinotecan toxicity and response
PMID: 20602618
Disease Associationsβ“˜21
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1Open Targets
0.63Moderate
Spinocerebellar ataxia type 1 with axonal neuropathyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
Uveal MelanomaOpen Targets
0.32Weak
Epithelioid Cell Uveal MelanomaOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.25Weak
joint diseaseOpen Targets
0.22Weak
bone remodeling diseaseOpen Targets
0.21Weak
gram-positive bacterial infectionsOpen Targets
0.15Weak
skin diseaseOpen Targets
0.13Weak
autosomal recessive cerebellar ataxiaOpen Targets
0.12Weak
myoepithelial tumorOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
HematemesisOpen Targets
0.07Suggestive
intracranial hemorrhageOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
FRAXF syndromeOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1UniProt
Pathogenic Variants5
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 493
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
β˜…β˜…β˜†β˜†2024β†’ Residue 304
NM_018319.4(TDP1):c.525_529del (p.Pro176fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 176
NM_018319.4(TDP1):c.1731_1753+646delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_018319.4(TDP1):c.2T>G (p.Met1Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 1
View on ClinVar β†—
Related Genes
FEN1Protein interaction100%MUS81Protein interaction99%XRCC6Protein interaction99%PRKDCProtein interaction96%PARP1Protein interaction90%APEX1Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
59%
Ovary
27%
Liver
21%
Lung
20%
Heart
13%
Gene Interaction Network
Click a node to explore
TDP1FEN1MUS81XRCC6PRKDCPARP1APEX1
PROTEIN STRUCTURE
Preparing viewer…
PDB6N0D Β· 1.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.61–0.98]
RankingsWhere TDP1 stands among ~20K protein-coding genes
  • #4,504of 20,598
    Most Researched106 Β· top quartile
  • #3,523of 5,498
    Most Pathogenic Variants5
  • #9,385of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedTDP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tyrosyl-DNA-phosphodiesterases (TDP1 and TDP2).
PMID: 24856239
DNA Repair (Amst) Β· 2014
1.00
2
Irinotecan pharmacogenomics.
PMID: 20602618
Pharmacogenomics Β· 2010
0.90
3
Human TDP1, APE1Β and TREX1 repair 3'-DNA-peptide/protein cross-links arising from abasic sites in vitro.
PMID: 35349719
Nucleic Acids Res Β· 2022
0.80
4
TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks.
PMID: 38761375
Cell Rep Β· 2024
0.70
5
Dual Processing of R-Loops and Topoisomerase I Induces Transcription-Dependent DNA Double-Strand Breaks.
PMID: 31533039
Cell Rep Β· 2019
0.60