2. Gene
  3. NUDT15 - nudix hydrolase 15 Gene

NUDT15 - nudix hydrolase 15 Gene

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

中文名称：nudix 水解酶 15

种属: Homo sapiens

同用名: MTH2; NUDT15D

基因 ID: 55270 | 基因类型: protein coding

关于 NUDT15

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:48,037,726-48,052,755 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 4.7), duodenum (RPKM 4.1) and 25 other tissues.

功能概要

该基因编码属于 Nudix 水解酶超家族的一种酶。这个超家族的成员催化核苷二磷酸的水解，包括像 8-oxo-dGTP 这样的底物，这是氧化损伤的结果，并且可以在 DNA 复制过程中诱导碱基错配，导致颠换。编码的酶是硫嘌呤活化和毒性的负调节剂。该基因的突变导致硫嘌呤代谢不良，并与硫嘌呤诱导的早期白细胞减少有关。已鉴定出该基因的多个假基因。[RefSeq 提供，2016 年 4 月]

This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]

NUDT15 基因产物(2)

mRNA Protein Name
NM_001304745.2 NP_001291674.1 nucleotide triphosphate diphosphatase NUDT15 isoform 2
NM_018283.4 NP_060753.1 nucleotide triphosphate diphosphatase NUDT15 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity EXP
EXP: 通过实验结果推断
22556419 GOA
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity IDA
IDA: 通过直接分析推断
22556419 GOA
enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity IDA
IDA: 通过直接分析推断
22556419 GOA
enables 8-oxo-dGDP phosphatase activity EXP
EXP: 通过实验结果推断
22556419 GOA
enables nucleoside triphosphate diphosphatase activity IDA
IDA: 通过直接分析推断
26238318 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19419956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in DNA protection IMP
IMP: 通过突变表型推断
26238318 GOA
involved in DNA protection IMP
IMP: 通过突变表型推断
26878724 GOA
involved in dGTP catabolic process IDA
IDA: 通过直接分析推断
22556419 GOA
involved in mitotic cell cycle IMP
IMP: 通过突变表型推断
19419956 GOA
involved in nucleoside phosphate catabolic process IDA
IDA: 通过直接分析推断
26238318 GOA
involved in nucleoside phosphate catabolic process IMP
IMP: 通过突变表型推断
26878724 GOA
involved in purine nucleotide catabolic process IMP
IMP: 通过突变表型推断
26878724 GOA
involved in regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
19419956 GOA
involved in xenobiotic catabolic process IMP
IMP: 通过突变表型推断
26878724 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

NUDT15 蛋白结构

NUDIX

NUDIX: NUDIX domain (15 - 132)

  • 0
  • 100
  • 164 a.a.
蛋白主名 其他名称

nucleotide triphosphate diphosphatase NUDT15

8-oxo-dGTPase NUDT15

关联疾病

疾病名称 别名
Thiopurines, Poor Metabolism Of, 2

THPM2

Nudt15 Deficiency
Leukemia, Acute Lymphoblastic 3

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

ALL3

Precursor B-Cell Acute Lymphoblastic Leukemia

B-All

Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor B-Cell Acute Lymphocytic Leukemia

Precursor B-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

Burkitt Lymphoma

Precursor B-Cell Lymphoblastic Leukemia
Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines
Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia
Alopecia
Liver Rhabdomyosarcoma

Rhabdomyosarcoma Of Liver
Gastroduodenal Crohn'S Disease

Upper Gi Crohn'S 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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-139193 TH1760 Inhibitor / 否
HY-RS09665 NUDT15 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus NUDT15 MGD MGI:2443366
Bos taurus NUDT15 VGNC VGNC:32329
Macaca mulatta NUDT15 VGNC VGNC:106278
Rattus norvegicus NUDT15 RGD RGD:1308292
Felis catus NUDT15 VGNC VGNC:102274
Canis familiaris NUDT15 VGNC VGNC:44027
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