TDP1 (tyrosyl-DNA phosphodiesterase 1)

2004-02-01  

Identity

HGNC
TDP1
LOCATION
14q32.11
LOCUSID
55775
ALIAS
-

Other Information

Locus ID:

NCBI: 55775
MIM: 607198
HGNC: 18884
Ensembl: ENSG00000042088

Variants:

dbSNP: 55775
ClinVar: 55775
TCGA: ENSG00000042088
COSMIC: TDP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000042088ENST00000335725Q9NUW8
ENSG00000042088ENST00000335725A0A024R6L5
ENSG00000042088ENST00000393452E7EPD8
ENSG00000042088ENST00000393454Q9NUW8
ENSG00000042088ENST00000393454A0A024R6L5
ENSG00000042088ENST00000545686Q9BRS7
ENSG00000042088ENST00000553527G3V3Q0
ENSG00000042088ENST00000553617G3V2J6
ENSG00000042088ENST00000553989G3V5F9
ENSG00000042088ENST00000554180G3V2U6
ENSG00000042088ENST00000554976G3V4W8
ENSG00000042088ENST00000555178G3V5H9
ENSG00000042088ENST00000555880G3V2F4
ENSG00000042088ENST00000556063H0YJ44
ENSG00000042088ENST00000556498G3V554
ENSG00000042088ENST00000556867G3V5B8
ENSG00000042088ENST00000557782H0YJL7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
122443162002Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.172
105213541999Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes.146
115729452001The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily.94
159204772005SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity.85
161412022005Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages.83
248562392014Tyrosyl-DNA-phosphodiesterases (TDP1 and TDP2).83
120232952002Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1.80
156475112005Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1).65
223750142012Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs DNA damage induced by topoisomerases I and II and base alkylation in vertebrate cells.62
210416702010Role of tyrosyl-DNA phosphodiesterase (TDP1) in mitochondria.60

Citation

Dessen P

TDP1 (tyrosyl-DNA phosphodiesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/42514/tdp1