2. Gene
  3. AMPD3 - adenosine monophosphate deaminase 3 Gene

AMPD3 - adenosine monophosphate deaminase 3 Gene

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

中文名称：磷酸腺苷脱氨酶 3

种属: Homo sapiens

基因 ID: 272 | 基因类型: protein coding

关于 AMPD3

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:10,450,388-10,507,579 (from NCBI)

This gene has 18 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues.

功能概要

该基因编码 AMP 脱氨酶基因家族的成员。编码的蛋白质是一种高度调节的酶，可催化腺苷单磷酸水解脱氨为肌苷单磷酸，这是腺苷酸分解代谢途径中的一个分支点。该基因编码红细胞 (E) 亚型，而其他家族成员编码在肌肉 (M) 和肝 (L) 细胞中占主导地位的亚型。该基因的突变导致临床无症状、常染色体隐性遗传条件下红细胞 AMP 脱氨酶缺乏症。已经描述了编码该基因的不同同种型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated Enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas Other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

AMPD3 基因产物(5)

mRNA Protein Name
NM_000480.3 NP_000471.1 AMP deaminase 3 isoform 1A
NM_001025389.2 NP_001020560.1 AMP deaminase 3 isoform 1B
NM_001025390.2 NP_001020561.1 AMP deaminase 3 isoform 1C
NM_001172430.1 NP_001165901.1 AMP deaminase 3 isoform 1B
NM_001172431.2 NP_001165902.1 AMP deaminase 3 isoform 4
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25910212 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

AMPD3 蛋白结构

A_deaminase

A_deaminase: Adenosine/AMP deaminase (310 - 716)

  • 0
  • 200
  • 400
  • 600
  • 767 a.a.
蛋白主名 其他名称

AMP deaminase 3

AMP aminohydrolase

AMPD3 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
AMPD3 Q01432 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
25910212
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
Erythrocyte Amp Deaminase Deficiency

Amp Deaminase Deficiency, Erythrocytic

Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type

AMPDDE

Amp Deaminase Deficiency Erythrocyte Type
Myopathy Due To Myoadenylate Deaminase Deficiency

Adenosine Monophosphate Deaminase Deficiency

Myoadenylate Deaminase Deficiency

Muscle Amp Deaminase Deficiency

MMDD

Ampd1 Deficiency

Amp Deaminase Deficiency

Mad Deficiency

Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due To

Myoadenylate Deaminase Deficiency, Myopathy Due To

Adenosine Monophosphate Deaminase 1 Deficiency

Amp Deaminase 1 Deficiency

Exercise-Induced Myopathy

Mada Deficiency

Adenosine Monophosphate Deaminase Deficiency Muscle Type

Amp Deaminase Deficiency Muscle Type

Myopathy, Due To Myoadenylate Deaminase Deficiency
Disorder Of Purine Metabolism

Purine Metabolism Disorder
Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii

Muscle Phosphofructokinase Deficiency

Tarui Disease

GSD7

Pfkm Deficiency

Gsd Vii

Glycogen Storage Disease, Type Vii

Glycogen Storage Disease Type 7

Phosphofructokinase Deficiency

Glycogenosis Type Vii

Phosphofructokinase Myopathy

Glycogenosis 7

Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency

Gsd Due To Muscle Phosphofructokinase Deficiency

Gsd Type 7

Gsd Type Vii

Glycogenosis Due To Muscle Phosphofructokinase Deficiency

Glycogenosis Type 7

Glycogen Storage Disease 7

Gsd-Vii

Storage Disease, Glycogen, Type Vii
Glycogen Storage Disease V

Mcardle Disease

Myophosphorylase Deficiency

Glycogen Storage Disease Type V

Muscle Glycogen Phosphorylase Deficiency

Pygm Deficiency

Gsd V

Glycogen Storage Disease, Type V

Glycogenosis Type V

Glycogen Storage Disease Type 5

GSD5

Pygmy

Mcardle'S Disease

Mcardle Type Glycogen Storage Disease

Gsd Type V

Pygmy, African

Gsdv

Gsd 5

Glycogenosis 5

Mcardle Syndrome

Muscle Phosphorylase Deficiency

Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Type 5

Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency

Glycogenosis Type 5

Glycogen Storage Disease 5

Gsd-V

Mcardles Disease

Storage Disease, Glycogen, Type V
Myoglobinuria
Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia Type 9

PCH9

Pontocerebellar Hypoplasia 9

Hypoplasia, Pontocerebellar, Type 9
Myopathy

Muscular Diseases

Myopathies
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00668 AMPD3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus AMPD3 RGD RGD:2111
Bos taurus AMPD3 VGNC VGNC:50189
Felis catus AMPD3 VGNC VGNC:67522
Mus musculus AMPD3 MGD MGI:1096344
Macaca mulatta AMPD3 VGNC VGNC:69808
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