TDP1 Gene
protein-coding GIFtS: 63
GCID: GC14P090422
|
|
tyrosyl-DNA phosphodiesterase 1
| |
Aliases for TDP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Tyrosyl-DNA Phosphodiesterase 11 2 | | Tyr-DNA Phosphodiesterase 12 3 | | FLJ110901 | | SCAN11 | | EC 3.1.4.-3 | | EC 3.1.48 |
Export aliases for TDP1 gene to outside databasesPrevious GC identifers: GC14P087927 GC14P084237 GC14P088411 GC14P088412 GC14P089492 GC14P070596 |
Summaries for TDP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for TDP1: The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing thehydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate ofDNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting arole in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D familyand contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellarataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-lengthnatures of only two have been described to date. These two represent the major variants of this gene and encode thesame isoform. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8Function: DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexesbetween DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3'ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strandDNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the3'end of DNA and RNA molecules with 3'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a3'phosphate Gene Wiki entry for TDP1
|
Genomic Views for TDP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TDP1 gene promoter: AML1a HSF1 (long) MyoD CUTL1 Nkx2-5 CBF-C CBF-A HSF1short CBF(2) Other transcription factors
Search SABiosciences Chromatin IP Primers for TDP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TDP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q32.11 Ensembl cytogenetic band: 14q32.11 HGNC cytogenetic band: 14q32.11TDP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P090422: view genomic region
(about GC identifiers)
Start:
|
90,421,283 bp from pter |
End:
|
90,511,108 bp from pter |
Size:
|
89,826 bases |
Orientation:
|
plus strand |
|
Proteins for TDP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8 (See
protein sequence)Recommended Name: Tyrosyl-DNA phosphodiesterase 1 Size: 608 amino acids; 68420 Da
Subunit: Monomer
Subcellular location: Nucleus. Cytoplasm
6/12 PDB 3D structures from and Proteopedia for TDP1 (see all 12):1JY1 (3D)
  1MU7 (3D)
  1MU9 (3D)
  1NOP (3D)
  1QZQ (3D)
  1RFF (3D)
 
Secondary accessions: Q2HXX4 Q96BK7 Q9NZM7 Q9NZM8Explore the universe of human proteins at neXtProt for TDP1: NX_Q9NUW8
Post-translational modifications:
Phosphorylated on serine and/or threonine residues, but not on tyrosine residues1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NUW8 2 DME Specific Peptides for TDP1 (Q9NUW8)
TDP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001008744.1 NP_060789.2 ENSEMBL proteins: ENSP00000452042 ENSP00000377098 ENSP00000450872 ENSP00000377099 ENSP00000450708 ENSP00000337353 ENSP00000452279 ENSP00000451358 ENSP00000452333 ENSP00000444587 ENSP00000452363 ENSP00000452183 ENSP00000450628 ENSP00000451767 ENSP00000450795 ENSP00000349952 Reactome Protein details: Q9NUW8 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
TDP1 for ontologies About GeneDecksing
TDP1 Antibody Products: Assay Products for TDP1: |
Protein
Domains / Families for TDP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TDP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NUW8ProtoNet protein and cluster: Q9NUW8 1 Blocks protein family: IPB010347 Tyrosyl-DNA phosphodiesterase
UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8Similarity: Belongs to the tyrosyl-DNA phosphodiesterase family |
Function for TDP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8Function: DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexesbetween DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3'ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strandDNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the3'end of DNA and RNA molecules with 3'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a3'phosphateBiophysicochemical properties: Kinetic parameters: KM=0.08 uM for 14-mer single-stranded oligo with a 3'-phosphotyrosine; Note=kcat is 7 sec(-1) with single-stranded 5'-tyrosyl DNA as substrate;Enzyme Numbers (IUBMB): EC 3.1.4.-1 EC 3.1.42
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TDP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TDP1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TDP1 (NM_001202504) | |  | Sino Biological Human cDNA Clone for TDP1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TDP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TDP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TDP1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
TDP1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TDP1: Animal Models: 4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tdp1):
TDP1 for phenotypes About GeneDecksing
|
Pathways & Interactions for TDP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Processing of DNA ends prior to end rejoining | | | 2 | Homologous Recombination Repair | | | 3 | Nucleotide Excision Repair | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for TDP1
TDP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TDP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
 5/17 Interacting proteins for TDP1 (Q9NUW82, 3 ENSP000003373534) via UniProtKB, MINT, STRING, and/or I2D (see all 17)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
TDP1 for ontologies About GeneDecksing
|
Drugs & Compounds for TDP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TDP1 for compounds About GeneDecksing
Browse Tocris compounds for TDP1 7 Novoseek chemical compound relationships for TDP1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tdp-1 |
99.4 |
298 |
19883083 (10), 20097655 (9), 16141202 (9), 17576665 (9) (see all 36) |
| phosphonate |
83.8 |
10 |
15333697 (1), 15811850 (1), 12618186 (1), 15494395 (1) (see all 9) |
| camptothecin |
80 |
17 |
15920477 (3), 16935573 (2), 16793421 (1), 16751265 (1) (see all 7) |
| phosphodiester |
76.7 |
9 |
20097655 (2), 14967139 (1), 12470949 (1), 11839309 (1) (see all 8) |
| vanadate |
57.3 |
9 |
14761185 (3), 12618186 (2), 12470949 (2), 19963390 (1) |
| tyrosine |
39.1 |
13 |
14761185 (3), 12618186 (2), 15333697 (1), 15647511 (1) (see all 9) |
| oligonucleotide |
19.5 |
3 |
12618186 (1), 14761185 (1) |
Search CenterWatch for drugs/clinical trials and news about TDP1 / TYDP1 
|
Transcripts for TDP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for TDP1 gene (2 alternative transcripts): NM_001008744.1 NM_018319.3 Unigene Cluster for TDP1: Tyrosyl-DNA phosphodiesterase 1 Hs.209945 [show with all ESTs]Unigene Representative Sequence: NM_01831918 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000554976 ENST00000393452 ENST00000554180 ENST00000393454 ENST00000553617 ENST00000335725(uc010atm.3 uc001xxy.3 uc001xxz.3 uc010atn.3 uc001xya.3 uc001xyb.3) ENST00000555565 ENST00000556867 ENST00000553569 ENST00000553527 ENST00000553989 ENST00000545686 ENST00000555178 ENST00000556498 ENST00000555880 ENST00000557782 ENST00000556063(uc001xyd.1) ENST00000357382
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TDP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TDP1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TDP1 (NM_001202504) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TDP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TDP1  |
Additional cDNA sequence: AF182002.1 AF182003.1 AK001952.1 AK023514.1 AK093235.1 AK315549.1 AL832288.1 BC006083.1 BC015474.1 BC107877.1 BX161451.1 17 DOTS entries: DT.100792498 DT.212817 DT.100774287 DT.100792501 DT.120784327 DT.91761821 DT.95375417 DT.100792497 DT.100737228 DT.100809028 DT.100661909 DT.40277777 DT.100736927 DT.104142 DT.100018747 DT.91761819 DT.95141859 24/192 AceView cDNA sequences (see all 192): BX161451 BX352942 BQ049211 BE613472 CR618058 BC006083 BU185781 AA514317 AW849814 BM789444 BQ233509 AA609339 CR602214 AA769506 BX357935 CR622999 AK093235 AA620407 AA479654 BX407827 BQ214685 CR605014 BM661793 CR615550 GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TDP1 (see all 10) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | |
| SP1: | |   | |   | |   | - |   | - |   | - |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | - |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |
| SP2: | |   | |   | - |   | |   | - |   | |   | |   | |
| SP3: | |   | |   | - |   | |   | - |   | |   | |   | |
| SP4: | |   | |   | - |   | |   | - |   | |   | |   | |
| SP5: | |   | |   | - |   | |   | - |   | |   | |   |
ECgene alternative splicing isoforms for TDP1
|
Expression for TDP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TDP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GAATCTCTTC
About this image See TDP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TDP1
SOURCE GeneReport for Unigene cluster: Hs.209945 UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8Tissue specificity: Ubiquitously expressed. Similar expression throughout the central nervous system (whole brain,amygdala, caudate nucleus, cerebellum, cerebral cortex, frontal lobe, hippocampus, medulla oblongata, occipital lobe,putamen, substantia nigra, temporal lobe, thalamus, nucleus accumbens and spinal cord) and increased expression intestis and thymus SABiosciences Custom PCR Arrays for TDP1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TDP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TDP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TDP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TDP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TDP1 |
Orthologs for TDP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for TDP1 gene from 9/29 species (see all 29) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Tdp11 , 5 |
tyrosyl-DNA phosphodiesterase 11, 5 |
81.25(n)1 81.58(a)1 |
  |
12 (50.43 cM)5 1048841 NM_028354.41 NP_082630.21 998845175 |
chicken (Gallus gallus) |
Aves |
TDP11 |
tyrosyl-DNA phosphodiesterase 1 |
68.89(n) 70.22(a) |
  |
423403 XM_421313.3 XP_421313.1 |
lizard (Anolis carolinensis) |
Reptilia |
TDP16 |
-- |
63(a) |
1 ↔ 1 |
1(12789082-12816502) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.168782 |
Xenopus laevis transcribed sequence with weak similarity more |
75.24(n) |
  |
BU905625.1 |
zebrafish (Danio rerio) |
Actinopterygii |
tdp11 |
tyrosyl-DNA phosphodiesterase 1 |
61.71(n) 60.17(a) |
  |
571485 XM_695082.4 XP_700174.2 |
fruit fly (Drosophila melanogaster) |
Insecta |
gkt1 |
glaikit |
48.19(n) 39.78(a) |
  |
33530 NM_078741.3 NP_523465.2 |
worm (Caenorhabditis elegans) |
Secernentea |
F52C12.11 , 3 |
Protein F52C12.11 |
34(a)3 46.85(n)1 38.57(a)1 |
  |
IV(1959862-1963128)3 1769961 NM_067748.31 NP_500149.11 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
TDP11 |
tyrosyl-DNA phosphodiesterase 1 |
48.88(n) 39.96(a) |
  |
831369 NM_121521.3 NP_197021.2 |
rice (Oryza sativa) |
Liliopsida |
Os.99872 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
70.69(n) |
  |
AK069279.1 |
ENSEMBL Gene Tree for TDP1 (if available) TreeFam Gene Tree for TDP1 (if available)  |
Paralogs for TDP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for TDP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 14 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for TDP1 (90421283 - 90511108 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for TDP1 1 CNV: 4844 Human Gene Mutation Database (HGMD): TDP1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TDP1 |
|
Disorders
/ Diseases for TDP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TDP1 for disorders About GeneDecksing
OMIM gene information: 607198 OMIM disorders: 607250 UniProtKB/Swiss-Prot: TYDP1_HUMAN, Q9NUW8
Defects in TDP1 are the cause of spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1)[MIM:607250]. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor andsensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy.All affected individuals have normal intelligence 20 diseases for TDP1: About MalaCardsaxonal neuropathy spinocerebellar ataxia spinocerebellar ataxia with axonal neuropathy, autosomal recessive charcot-marie-tooth neuropathy ataxia neuropathy dna topoisomerase i spinocerebellar degeneration ollier disease cerebellar ataxia ataxia telangiectasia muscular atrophy neurodegenerative disease hereditary ataxia colon carcinoma neurodegeneration meningioma lung cancer cerebritis carcinoma 3 diseases from the University of Copenhagen DISEASES database for TDP1:Axonal neuropathy Spinocerebellar ataxia Ollier disease 6 Novoseek disease relationships for TDP1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| scan1 |
98.9 |
25 |
17600775 (4), 15920477 (4), 15647511 (3), 15744309 (3) (see all 7) |
| spinocerebellar ataxias |
87.3 |
17 |
16141202 (2), 16793421 (1), 17600775 (1), 20009512 (1) (see all 11) |
| spinocerebellar degenerations |
78.3 |
5 |
16793421 (1), 20009512 (1), 15920477 (1), 18473723 (1) |
| neurodegenerative diseases |
43.4 |
5 |
15744309 (1), 17045754 (1), 16141202 (1), 19794497 (1) |
| cancer |
2.73 |
2 |
19883083 (1), 15494395 (1) |
| tumors |
0 |
1 |
15379698 (1) |
GeneTests: TDP1 Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive Human Genome Epidemiology (HuGE) Navigator: TDP1 (3 documents) Export disorders for TDP1 gene to outside databases
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Publications for TDP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TDP1 gene, integrated from 9 sources (see all 69): (articles sorted by number of sources associating them with TDP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1. (PubMed id 11839309)1, 2, 3, 9 Davies D.R.... Hol W.G.J. (2002)
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. (PubMed id 12244316)1, 2, 3 Takashima H.... Lupski J.R. (2002)
- Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages. (PubMed id 16141202)1, 2, 9 Interthal H.... Champoux J.J. (2005)
- Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1). (PubMed id 15811850)1, 2, 9 Raymond A.C.... Burgin A.B. Jr. (2005)
- SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity. (PubMed id 15920477)1, 2, 9 Interthal H....Champoux J.J. (2005)
- Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). (PubMed id 15647511)1, 2, 9 Zhou T....Povirk L.F. (2005)
- Insights into substrate binding and catalytic mechanism of human tyrosyl-DNA phosphodiesterase (Tdp1) from vanadate and tungstate- inhibited structures. (PubMed id 12470949)1, 2, 9 Davies D.R.... Hol W.G.J. (2002)
- Explorations of peptide and oligonucleotide binding sites of tyrosyl-DNA phosphodiesterase using vanadate complexes. (PubMed id 14761185)1, 2, 9 Davies D.R....Hol W.G. (2004)
- Crystal structure of a transition state mimic for TDP1 assembled from vanadate, DNA, and a topoisomerase I-derived peptide. (PubMed id 12618186)1, 2, 9 Davies D.R.... Hol W.G.J. (2003)
- Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues. (PubMed id 15111055)1, 2, 9 Raymond A.C.... Burgin A.B. Jr. (2004)
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External Searches for TDP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing TDP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing TDP1 gene
(According to HUGE)
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Specialized Databases showing TDP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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About This Section
| Patent Information for TDP1 gene: Search GeneIP for patents involving TDP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for TDP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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