InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TDP1

Summary

InnateDB Protein

IDBP-15631.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TDP1

Protein Name

tyrosyl-DNA phosphodiesterase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000337353

InnateDB Gene

IDBG-15629 (TDP1)

Protein Structure

UniProt Annotation

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:0000269PubMed:12023295, ECO:0000269PubMed:15111055, ECO:0000269PubMed:15811850, ECO:0000269PubMed:16141202, ECO:0000269PubMed:22822062}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:15647511}. Cytoplasm {ECO:0000269PubMed:15647511}.

Disease Associations

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (SCAN1) [MIM:607250]: Spinocerebellar ataxia is 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:0000269PubMed:12244316}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue 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 in testis and thymus. {ECO:0000269PubMed:12244316, ECO:0000269PubMed:17948061}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003690	double-stranded DNA binding
GO:0003697	single-stranded DNA binding
GO:0004527	exonuclease activity
GO:0005515	protein binding
GO:0008081	phosphoric diester hydrolase activity
GO:0017005	3'-tyrosyl-DNA phosphodiesterase activity

Biological Process

GO:0000012	single strand break repair
GO:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0008219	cell death
GO:0090305	nucleic acid phosphodiester bond hydrolysis