2. Gene
  3. NUDT1 - nudix hydrolase 1 Gene

NUDT1 - nudix hydrolase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：nudix 水解酶 1

种属: Homo sapiens

同用名: MTH1

基因 ID: 4521 | 基因类型: protein coding

关于 NUDT1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,242,226-2,251,145 (from NCBI)

This gene has 9 transcripts (splice variants), 197 orthologues and 3 paralogues. Broad expression in bone marrow (RPKM 17.0), testis (RPKM 13.9) and 24 other tissues.

功能概要

在复制和转录过程中，氧化核苷三磷酸错误掺入 DNA/RNA 会导致突变，从而导致癌变或神经变性。该基因编码的蛋白质是一种酶，可将氧化嘌呤三磷酸核苷 (如 8-oxo-dGTP、8-oxo-dATP、2-hydroxy-dATP 和 2-hydroxy rATP) 水解为单磷酸盐，从而防止错误掺入。编码的蛋白质主要位于细胞质中，一些位于线粒体中，这表明它参与了核基因组和线粒体基因组的核苷酸库的清理。已经确定了几种可变剪接的转录本变体，其中一些编码不同的同种型。已观察到其他变体，但尚未确定其全长性质。已经描述了一种罕见的单核苷酸多态性，它会导致产生额外的、更长的亚型 (p26) 。[RefSeq 提供，2018 年 12 月]

Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an Enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]

NUDT1 基因产物(10)

mRNA Protein Name
NM_001367553.1 NP_001354482.1 oxidized purine nucleoside triphosphate hydrolase isoform p18
NM_001367554.1 NP_001354483.1 oxidized purine nucleoside triphosphate hydrolase isoform 3
NM_001367555.1 NP_001354484.1 oxidized purine nucleoside triphosphate hydrolase isoform 3
NM_002452.4 NP_002443.3 oxidized purine nucleoside triphosphate hydrolase isoform p18
NM_198948.2 NP_945186.1 oxidized purine nucleoside triphosphate hydrolase isoform p18
NM_198949.2 NP_945187.1 oxidized purine nucleoside triphosphate hydrolase isoform p22
NM_198950.2 NP_945188.1 oxidized purine nucleoside triphosphate hydrolase isoform p18
NM_198952.2 NP_945190.1 oxidized purine nucleoside triphosphate hydrolase isoform p22
NM_198953.1 NP_945191.1 oxidized purine nucleoside triphosphate hydrolase isoform p18
NM_198954.1 NP_945192.1 oxidized purine nucleoside triphosphate hydrolase isoform p22

NUDT1 蛋白结构

NUDIX

NUDIX: NUDIX domain (31 - 152)

  • 0
  • 100
  • 179 a.a.
蛋白主名 其他名称

oxidized purine nucleoside triphosphate hydrolase

2-hydroxy-dATP diphosphatase

NUDT1 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
NUDT1 P36639 HEL-S-5 Homo sapiens V9HWA0
Y2H Array
25416956
种属内
NUDT1 P36639 HEL-S-5 Homo sapiens V9HWA0
Y2H Prey Pooling
25416956
种属内
NUDT1 P36639 ACY1 Homo sapiens Q03154
Anti Tag CoIP
33961781
种属内
NUDT1 P36639 ACY1 Homo sapiens Q03154
Y2H Array
31515488
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 NUDT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74740 MTH1 Protein, Human (His) P36639-4/NP_002443.3 (M1-V156) ≥95%

关联疾病

疾病名称 别名
Familial Adenomatous Polyposis

Adenomatous Polyposis Coli

Fap

Familial Polyposis Coli

Familial Multiple Polyposis Syndrome

Adenomatous Polyposis Of The Colon

Familial Intestinal Polyposis

Fpc

Familial Adenomatous Polyposis Of The Colon

Familial Multiple Polyposis

Familial Polyposis Of The Colon

Hereditary Polyposis Coli

Polyposis, Adenomatous Intestinal

Adenomatous Familial Polyposis

Adenomatous Familial Polyposis Syndrome

Myh-Associated Polyposis

Colorectal Adenomatous Polyposis

Adenomatous Polyposis, Familial

Mutyh-Associate Polyposis
Gastric Papillary Adenocarcinoma

Papillary Adenocarcinoma Of Stomach
Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis

FAP2

Colorectal Adenomatous Polyposis, Autosomal Recessive

Adenomas, Multiple Colorectal

Mutyh-Associated Polyposis

Mutyh-Related Attenuated Familial Polyposis Coli

Mutyh-Related Attenuated Fap

Adenomas, Multiple Colorectal, Autosomal Recessive

Mutyh-Related Afap

Adenomas Multiple Colorectal Autosomal Recessive

Colorectal Adenomatous Polyposis Autosomal Recessive

Adenomatous Polyposis, Familial, Type 2
Lung Benign Neoplasm

Lung Neoplasms

Tumor Of The Lung

Lung Tumor
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-12814 TH588 Inhibitor 99.20% 否
HY-112081 BAY-707 Inhibitor 99.64% 否
HY-158062 LC-1-40 / 否
HY-RS09661 NUDT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-12814A TH588 hydrochloride Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NUDT1 RGD RGD:621080
Felis catus NUDT1 VGNC VGNC:68589
Macaca mulatta NUDT1 VGNC VGNC:75550
Mus musculus NUDT1 MGD MGI:109280
Canis familiaris NUDT1 VGNC VGNC:44024
Bos taurus NUDT1 VGNC VGNC:32325
Others NUDT1 NCBI
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