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  2. TDP1 - tyrosyl-DNA phosphodiesterase 1 Gene

TDP1 - tyrosyl-DNA phosphodiesterase 1 Gene

Homo sapiens
Gene ID: 55775 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Tyr-DNA_phospho: Tyrosyl-DNA phosphodiesterase (163 - 582)

  • 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 Reference
Intra
TDP1 Q9NUW8 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
TDP1 Q9NUW8 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
TDP1 Q9NUW8 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
TDP1 Q9NUW8 TERF2 Homo sapiens Q15554-4 32814053
Intra
TDP1 Q9NUW8 TERF2 Homo sapiens Q15554-4 32814053
Intra
TDP1 Q9NUW8 TERF2 Homo sapiens Q15554-4 32814053
Intra
TDP1 Q9NUW8 KPNA2 Homo sapiens P52292 33961781
Intra
TDP1 Q9NUW8 KPNA2 Homo sapiens P52292
TAP
24981860
Intra
TDP1 Q9NUW8 PIAS1 Homo sapiens O75925 32814053
Intra
TDP1 Q9NUW8 PIAS1 Homo sapiens O75925 32814053
Intra
TDP1 Q9NUW8 PIAS1 Homo sapiens O75925 32814053
Intra
TDP1 Q9NUW8 XRCC1 Homo sapiens P18887
TAP
24981860
Intra
TDP1 Q9NUW8 XRCC1 Homo sapiens P18887 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

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