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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]
TDP1 (Tyrosyl-DNA Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with TDP1 include Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 and Axonal Neuropathy. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and phosphoric diester hydrolase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003690 | double-stranded DNA binding | IBA,IDA | 15811850 |
GO:0003697 | single-stranded DNA binding | IBA,IDA | 15811850 |
GO:0004518 | nuclease activity | IEA | -- |
GO:0004527 | exonuclease activity | IEA | -- |
GO:0005515 | protein binding | IPI | 15744309 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17948061 |
GO:0005886 | plasma membrane | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
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2 | DNA Damage | ||
3 | DNA Double Strand Break Response |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000012 | single strand break repair | IBA,IMP | 17600775 |
GO:0006281 | DNA repair | IEA,IDA | 17948061 |
GO:0006302 | double-strand break repair | IBA,IDA | 12023295 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0090305 | nucleic acid phosphodiester bond hydrolysis | IEA | -- |
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: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | - | |||||||||||
SP3: | - | - | |||||||||||
SP4: | - | - | |||||||||||
SP5: | - | - | |||||||||||
SP6: | - | ||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TDP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TDP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TDP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tdp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tdp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TDP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TDP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TDP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TDP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tdp1 30 |
|
||
Str.15945 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16878 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tdp1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | gkt 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010577 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F52C12.1 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TDP1 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TDP1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0530100 30 |
|
||
Os.9987 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1071 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716009 | Benign: not provided | 89,993,478(+) | C/T | SYNONYMOUS_VARIANT | |
726721 | Likely Benign: not provided | 89,963,351(+) | C/T | SYNONYMOUS_VARIANT | |
739951 | Likely Benign: not provided | 89,967,363(+) | C/G | INTRON_VARIANT | |
777244 | Likely Benign: not provided | 89,975,798(+) | G/A | SYNONYMOUS_VARIANT | |
805646 | Uncertain Significance: not provided | 89,989,022(+) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |
|
|
axonal neuropathy |
|
|
autosomal recessive cerebellar ataxia |
|
|
spinocerebellar ataxia type 1 with axonal neuropathy |
|
|
neuropathy |
|
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