TDP1 - tyrosyl-DNA phosphodiesterase 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55775

About TDP1

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:89,954,968-90,044,764 (from NCBI)

This gene has 17 transcripts (splice variants), 212 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 7.3), lymph node (RPKM 4.5) and 24 other tissues.

Summary

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 Products (3)

mRNA	Protein	Name
NM_001008744.2	NP_001008744.1	tyrosyl-DNA phosphodiesterase 1 isoform a
NM_001330205.2	NP_001317134.1	tyrosyl-DNA phosphodiesterase 1 isoform b
NM_018319.4	NP_060789.2	tyrosyl-DNA phosphodiesterase 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-tyrosyl-DNA phosphodiesterase activity	IDA IDA: Inferred from direct assay	17118488	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	15811850	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15744309	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	15811850	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IDA IDA: Inferred from direct assay	17948061	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	12023295	GOA
involved in single strand break repair	IDA IDA: Inferred from direct assay	15811850	GOA
involved in single strand break repair	IMP IMP: Inferred from mutant phenotype	17600775	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17948061	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TDP1 Protein Structure

Tyr-DNA_phospho

0
100
200
300
400
500
608 a.a.

Protein Preferred Names	Protein Names
tyrosyl-DNA phosphodiesterase 1	tyr-DNA phosphodiesterase 1

TDP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Validated Y2H	32814053
Intra	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Y2H Array	32814053
Intra	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Y2H Pooling	32814053
Intra	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Y2H Array	32814053
Intra	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Y2H Pooling	32814053
Intra	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Validated Y2H	32814053
Intra	TDP1	Q9NUW8	KPNA2	Homo sapiens	P52292	Anti Tag CoIP	33961781
Intra	TDP1	Q9NUW8	KPNA2	Homo sapiens	P52292	TAP	24981860
Intra	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
Intra	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Y2H Array	32814053
Intra	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
Intra	TDP1	Q9NUW8	XRCC1	Homo sapiens	P18887	TAP	24981860
Intra	TDP1	Q9NUW8	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	SCAN1
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy	Scan1 Spinocerebellar Ataxia With Axonal Neuropathy Type 1 Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
Axonal Neuropathy
Autosomal Recessive Cerebellar Ataxia	Arca
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Primary Cerebellar Degeneration	Spinocerebellar Degenerations Cerebellar Degenerations, Primary Spinocerebellar Degeneration
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Spinocerebellar Ataxia, Autosomal Recessive 23	SCAR23 Autosomal Recessive Spinocerebellar Ataxia 23 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 23 Spinocerebellar Ataxia, Autosomal Recessive, 23 Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Ruijs-Aalfs Syndrome	Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome RJALS
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Spinocerebellar Ataxia, Autosomal Recessive 15	Autosomal Recessive Spinocerebellar Ataxia 15 SCAR15 Salih Ataxia Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia, Autosomal Recessive, 15 Ataxia, Spinocerebellar, Autosomal Recessive, Type 15
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (16)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110137	Furamidine dihydrochloride	Inhibitor	≥99.0%	Unkown
HY-119372	TDP1 Inhibitor-1	Inhibitor	98.33%	Unkown
HY-W177546	CD00509		98.0%	Unkown
HY-157886	TDP1 Inhibitor-3	Inhibitor	98.10%	Unkown
HY-147750	TDP1 Inhibitor-2	Inhibitor	99.75%	Unkown
HY-161853	TX-2552	Inhibitor	99.69%	Unkown
HY-110137A	Furamidine	Inhibitor	/	Unkown
HY-175779	TDP1-IN-4	Inhibitor	/	Unkown
HY-176409	Phosphodiesterase-IN-4	Inhibitor	/	Unkown
HY-181080	TOP1/TDP1-IN-1		/	Unkown
HY-183334	TDP1-IN-5		/	Unkown
HY-183546	TDP1-IN-6		/	Unkown
HY-RS14332	TDP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-124486	NSC-88915	Inhibitor	/	Unkown
HY-RS17650	Tdp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24110	Tdp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TDP1	VGNC	VGNC:66045
Macaca mulatta	TDP1	VGNC	VGNC:79164
Rattus norvegicus	TDP1	RGD	RGD:1309618
Mus musculus	TDP1	MGD	MGI:1920036
Canis familiaris	TDP1	VGNC	VGNC:47218
Bos taurus	TDP1	VGNC	VGNC:35713
Others	TDP1	NCBI