TDP1 - tyrosyl-DNA phosphodiesterase 1 Gene

中文名称：酪氨酰 DNA 磷酸二酯酶 1

种属: Homo sapiens

基因 ID: 55775 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质通过催化拓扑异构酶 I 的酪氨酸残基和 DNA 的 3-主要磷酸之间的磷酸二酯键的水解，参与修复停滞的拓扑异构酶 I-DNA 复合物。这种蛋白质还可以从含有 3-prime 磷酸乙醇酸的单链 DNA 中去除乙醇酸，表明它在修复自由基介导的 DNA 双链断裂中发挥作用。该基因是磷脂酶 D 家族的成员，包含两个 PLD 磷酸二酯酶结构域。该基因的突变与脊髓小脑性共济失调伴轴索性神经病 (SCAN1) 相关。[RefSeq 提供，2016 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 3'-tyrosyl-DNA phosphodiesterase activity	IDA IDA: 通过直接分析推断	17118488	GOA
enables double-stranded DNA binding	IDA IDA: 通过直接分析推断	15811850	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15744309	GOA
enables single-stranded DNA binding	IDA IDA: 通过直接分析推断	15811850	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA repair	IDA IDA: 通过直接分析推断	17948061	GOA
involved in double-strand break repair	IDA IDA: 通过直接分析推断	12023295	GOA
involved in single strand break repair	IDA IDA: 通过直接分析推断	15811850	GOA
involved in single strand break repair	IMP IMP: 通过突变表型推断	17600775	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	17948061	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TDP1 蛋白结构

Tyr-DNA_phospho

0
100
200
300
400
500
608 a.a.

蛋白主名

其他名称

tyrosyl-DNA phosphodiesterase 1

tyr-DNA phosphodiesterase 1

TDP1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Validated Y2H	32814053
种属内	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Y2H Array	32814053
种属内	TDP1	Q9NUW8	RNF111	Homo sapiens	Q6ZNA4-2	Y2H Pooling	32814053
种属内	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Y2H Array	32814053
种属内	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Y2H Pooling	32814053
种属内	TDP1	Q9NUW8	TERF2	Homo sapiens	Q15554-4	Validated Y2H	32814053
种属内	TDP1	Q9NUW8	KPNA2	Homo sapiens	P52292	Anti Tag CoIP	33961781
种属内	TDP1	Q9NUW8	KPNA2	Homo sapiens	P52292	TAP	24981860
种属内	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
种属内	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Y2H Array	32814053
种属内	TDP1	Q9NUW8	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
种属内	TDP1	Q9NUW8	XRCC1	Homo sapiens	P18887	TAP	24981860
种属内	TDP1	Q9NUW8	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	35271311

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-110137	Furamidine dihydrochloride	Inhibitor	≥99.0%	否
HY-119372	TDP1 Inhibitor-1	Inhibitor	99.81%	否
HY-147750	TDP1 Inhibitor-2	Inhibitor	99.84%	否
HY-W177546	CD00509	Inhibitor	≥98.0%	否
HY-110137A	Furamidine	Inhibitor	/	否
HY-157886	TDP1 Inhibitor-3	Inhibitor	/	否
HY-161853	TX-2552		99.69%	否
HY-RS14332	TDP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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