Seroatlas · Human Serome Atlas

TDP1

Tyrosyl-DNA phosphodiesterase 1

Also known as: FLJ11090, SCAN1, TYDP1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NUW8
Gene
TDP1
Ensembl
ENSG00000042088
Chromosome
14
Canonical length
608 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane

OverviewNCBI Gene

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 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). [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

608 residues, UniProt reviewed canonical sequence.

>Q9NUW8|TDP1
     1  MSQEGDYGRW TISSSDESEE EKPKPDKPST SSLLCARQGA ANEPRYTCSE AQKAAHKRKI
    61  SPVKFSNTDS VLPPKRQKSG SQEDLGWCLS SSDDELQPEM PQKQAEKVVI KKEKDISAPN
   121  DGTAQRTENH GAPACHRLKE EEDEYETSGE GQDIWDMLDK GNPFQFYLTR VSGVKPKYNS
   181  GALHIKDILS PLFGTLVSSA QFNYCFDVDW LVKQYPPEFR KKPILLVHGD KREAKAHLHA
   241  QAKPYENISL CQAKLDIAFG THHTKMMLLL YEEGLRVVIH TSNLIHADWH QKTQGIWLSP
   301  LYPRIADGTH KSGESPTHFK ADLISYLMAY NAPSLKEWID VIHKHDLSET NVYLIGSTPG
   361  RFQGSQKDNW GHFRLKKLLK DHASSMPNAE SWPVVGQFSS VGSLGADESK WLCSEFKESM
   421  LTLGKESKTP GKSSVPLYLI YPSVENVRTS LEGYPAGGSL PYSIQTAEKQ NWLHSYFHKW
   481  SAETSGRSNA MPHIKTYMRP SPDFSKIAWF LVTSANLSKA AWGALEKNGT QLMIRSYELG
   541  VLFLPSAFGL DSFKVKQKFF AGSQEPMATF PVPYDLPPEL YGSKDRPWIW NIPYVKAPDT
   601  HGNMWVPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TDP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 26 nTPM
  • tonsil: 22 nTPM
  • testis: 21 nTPM
  • lymph node: 18 nTPM
  • bone marrow: 13 nTPM
  • appendix: 11 nTPM

Single-cell type

  • early spermatids: 166 nCPM
  • late primary spermatocytes: 100 nCPM
  • oocytes: 78 nCPM
  • late spermatids: 67 nCPM
  • neutrophil progenitors: 59 nCPM
  • early primary spermatocytes: 50 nCPM

Immune cell

  • T-reg: 32 nTPM
  • basophil: 29 nTPM
  • NK-cell: 24 nTPM
  • naive CD8 T-cell: 23 nTPM
  • naive CD4 T-cell: 22 nTPM
  • memory B-cell: 21 nTPM

Brain region

  • choroid plexus: 22 nTPM
  • cerebellum: 20 nTPM
  • hypothalamus: 17 nTPM
  • basal ganglia: 16 nTPM
  • cerebral cortex: 16 nTPM
  • thalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TDP1.

Disease | AllUniProt

Conditions TDP1 is implicated in, by any mechanism.

  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) MIM:607250

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 292 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.11
gnomAD pLI
0
gnomAD missense Z
0.6
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Tyrosyl-DNA phosphodiesterase I
  • Tyrosyl-DNA phosphodiesterase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TDP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TDP1 as an antibody target. Whether an autoantibody or antibody against TDP1 could matter depends on whether native TDP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TDP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TDP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TDP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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