TDP1
entrez
55775
canonical
uniprot
Q9NUW8
canonical
ensembl
ENSG00000042088
resolver
ensp
ENSP00000337353
resolver
ensp
ENSP00000377099
resolver
ensp
ENSP00000450628
resolver
ensp
ENSP00000564873
resolver
ensp
ENSP00000564876
resolver
ensp
ENSP00000564878
resolver
ensp
ENSP00000564879
resolver
ensp
ENSP00000648433
resolver
enst
ENST00000555880
resolver
genesymbol
TDP1
resolver
hgnc
HGNC:18884
resolver
uniprot
B3KN41
resolver
uniprot
G3V2F4
resolver
uniprot
Q2HXX4
resolver
uniprot
Q86TV8
resolver
uniprot
Q96BK7
resolver
uniprot
Q9NZM7
resolver
uniprot
Q9NZM8
resolver
uniprot_entry
B3KN41_HUMAN
resolver
uniprot_entry
G3V2F4_HUMAN
resolver
uniprot_entry
TYDP1_HUMAN
resolver
uniprot_sec
Q2HXX4
resolver
uniprot_sec
Q86TV8
resolver
uniprot_sec
Q96BK7
resolver
uniprot_sec
Q9NZM7
resolver
uniprot_sec
Q9NZM8
resolver
amino_acid_sequence
MSQEGDYGRWTISSSDESEEEKPKPDKPSTSSLLCARQGAANEPRYTCSEAQKAAHKRKISPVKFSNTDSVLPPKRQKSGSQEDLGWCLSSSDDELQPEMPQKQAEKVVIKKEKDISAPNDGTAQRTENHGAPACHRLKEEEDEYETSGEGQDIWDMLDKGNPFQFYLTRVSGVKPKYNSGALHIKDILSPLFGTLVSSAQFNYCFDVDWLVKQYPPEFRKKPILLVHGDKREAKAHLHAQAKPYENISLCQAKLDIAFGTHHTKMMLLLYEEGLRVVIHTSNLIHADWHQKTQGIWLSPLYPRIADGTHKSGESPTHFKADLISYLMAYNAPSLKEWIDVIHKHDLSETNVYLIGSTPGRFQGSQKDNWGHFRLKKLLKDHASSMPNAESWPVVGQFSSVGSLGADESKWLCSEFKESMLTLGKESKTPGKSSVPLYLIYPSVENVRTSLEGYPAGGSLPYSIQTAEKQNWLHSYFHKWSAETSGRSNAMPHIKTYMRPSPDFSKIAWFLVTSANLSKAAWGALEKNGTQLMIRSYELGVLFLPSAFGLDSFKVKQKFFAGSQEPMATFPVPYDLPPELYGSKDRPWIWNIPYVKAPDTHGNMWVPS
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. {ECO:0000269|PubMed:12244316, ECO:0000269|PubMed:15647511, ECO:0000269|PubMed:15920477, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:17948061}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.-
uniprot
proteins
function
FUNCTION: DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexes between 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-strand DNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the 3'end of DNA and RNA molecules with 3'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a 3'phosphate. {ECO:0000269|PubMed:12023295, ECO:0000269|PubMed:15111055, ECO:0000269|PubMed:15811850, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:22822062}.
uniprot
proteins
mass_dalton
68420
uniprot
proteins
mutagenesis
MUTAGEN 263; /note="H->A: Loss of activity."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 265; /note="K->A: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 265; /note="K->S: Reduces the activity to nearly undetectable levels."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 283; /note="N->A: No effect."; /evidence="ECO:0000269|PubMed:15111055"; MUTAGEN 294; /note="Q->A: Slightly reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:15111055"; MUTAGEN 493; /note="H->A: 3000-fold reduction in activity; abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 493; /note="H->N: 15000-fold reduction in activity."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 495; /note="K->A: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 495; /note="K->S: 125-fold reduction in activity."; /evidence="ECO:0000269|PubMed:11572945, ECO:0000269|PubMed:15111055"; MUTAGEN 516; /note="N->A: Reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:15111055"; MUTAGEN 538; /note="E->A: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA."; /evidence="ECO:0000269|PubMed:15111055
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine and/or threonine residues, but not on tyrosine residues. {ECO:0000269|PubMed:15647511}.
uniprot
proteins
protein_family
Tyrosyl-DNA phosphodiesterase family
uniprot
proteins
pubmed
10521354
uniprot
proteins
pubmed
11572945
uniprot
proteins
pubmed
11839309
uniprot
proteins
pubmed
12023295
uniprot
proteins
pubmed
12244316
uniprot
proteins
pubmed
12470949
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12618186
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14761185
uniprot
proteins
pubmed
15111055
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15647511
uniprot
proteins
pubmed
15811850
uniprot
proteins
pubmed
15920477
uniprot
proteins
pubmed
16141202
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17948061
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22822062
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
608
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15647511}. Cytoplasm {ECO:0000269|PubMed:15647511}.
uniprot
proteins