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  2. NUDT5 - nudix hydrolase 5 Gene

NUDT5 - nudix hydrolase 5 Gene

中文名称:nudix 水解酶 5

种属: Homo sapiens

同用名: YSA1; YSA1H; YSAH1; hNUDT5

基因 ID: 11164 | 基因类型: protein coding

关于 NUDT5

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:12,165,330-12,195,891 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 12.0), skin (RPKM 11.4) and 25 other tissues.

功能概要

该基因属于 Nudix (核苷二磷酸连接部分 X) 水解酶超家族。编码的酶催化修饰的核苷二磷酸的水解,包括 ADP-核糖 (ADPR) 和含 8-oxoGua 的 8-oxo-dADP 和 8-oxo-dGDP。蛋白质结合的 ADP 核糖可能对细胞有害,因为它可以修饰一些氨基酸残基,从而抑制 ATP 激活的钾通道。 8-oxoGua 是鸟嘌呤的一种氧化形式,可以通过与 RNA 中的腺嘌呤和胞嘧啶配对来潜在地改变遗传信息。 RNA 中 8-oxoGua 的存在会导致由于翻译错误而形成异常蛋白质。[RefSeq 提供,2013 年 8 月]

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded Enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]

NUDT5 基因产物(3)

mRNA Protein Name
NM_001321647.2 NP_001308576.1 ADP-sugar pyrophosphatase isoform 2
NM_001321648.2 NP_001308577.1 ADP-sugar pyrophosphatase isoform 3
NM_014142.4 NP_054861.2 ADP-sugar pyrophosphatase isoform 1

NUDT5 蛋白结构

NUDIX

NUDIX: NUDIX domain (60 - 183)

  • 0
  • 100
  • 200
  • 219 a.a.
蛋白主名 其他名称

ADP-sugar pyrophosphatase

8-oxo-dGDP phosphatase

重组 NUDT5 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76525 NUDT5 Protein, Human (His) Q9UKK9 (E2-F219) ≥95%

关联疾病

疾病名称 别名
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures

CONDSIAS

Stress-Induced Childhood-Onset Neurodegeneration With Variable Ataxia And Seizures

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus NUDT5 VGNC VGNC:32339
Canis familiaris NUDT5 VGNC VGNC:44034
Rattus norvegicus NUDT5 RGD RGD:1359284
Macaca mulatta NUDT5 VGNC VGNC:75552
Mus musculus NUDT5 MGD MGI:1858232
Others NUDT5 NCBI