1. Gene
  2. GMPS - guanine monophosphate synthase Gene

GMPS - guanine monophosphate synthase Gene

中文名称:鸟嘌呤单磷酸合酶

种属: Homo sapiens

同用名: GATD7

基因 ID: 8833 | 基因类型: protein coding

关于 GMPS

Cytogenetic location: 3q25.31 Genomic coordinates (GRCh38): 3:155,869,430-155,944,020 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues and is associated with 60 phenotypes. Broad expression in testis (RPKM 20.3), thyroid (RPKM 6.3) and 25 other tissues.

功能概要

在嘌呤核苷酸的从头合成中,IMP 是分支点代谢物,在该点途径分支为鸟嘌呤或腺嘌呤核苷酸的合成。在鸟嘌呤核苷酸途径中,有 2 种酶参与将 IMP 转化为 GMP,即 IMP 脱氢酶 (IMPD1) ,催化 IMP 氧化为 XMP;GMP 合成酶,催化 XMP 胺化为 GMP。[RefSeq 提供,2008 年 7 月]

In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 Enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]

GMPS 基因产物(1)

mRNA Protein Name
NM_003875.3 NP_003866.1 GMP synthase [glutamine-hydrolyzing]
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 GMP synthase (glutamine-hydrolyzing) activity EXP
EXP: 通过实验结果推断
7706277 GOA
enables GMP synthase (glutamine-hydrolyzing) activity IDA
IDA: 通过直接分析推断
8089153 GOA
enables GMP synthase activity IDA
IDA: 通过直接分析推断
8081953 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within GMP biosynthetic process IDA
IDA: 通过直接分析推断
8089153 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
8089153 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

GMPS 蛋白结构

GATase

GATase: Glutamine amidotransferase class-I (29 - 208)

NAD_synthase

NAD_synthase: NAD synthase (224 - 302)

GMP_synt_C

GMP_synt_C: GMP synthase C terminal domain (493 - 692)

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

GMP synthase [glutamine-hydrolyzing]

GMP synthase

关联疾病

疾病名称 别名
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

Orotic Aciduria

Hereditary Orotic Aciduria

Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency

Uridine Monophosphate Synthase Deficiency

Umps Deficiency

Uridine Monophosphate Synthetase Deficiency

Orotic Aciduria I

Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency

Oprt And Odc Deficiency

Ump Synthase Deficiency

Orotic Aciduria Ii

Oroticaciduria 1

Orotic Aciduria Hereditary

Orotic Aciduria Type 1

Hereditary Orotic Aciduria Without Megaloblastic Anemia

Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency

Ump Synthtase Deficiency

Umps

Orotidylic Decarboxylase Deficiency

Orotic Aciduria 1

ORAC1

Aciduria, Orotic

Hereditary Orotic Aciduria, Type 1

Orotic Aciduria Nos

Orotaciduric Anaemia

Orotic Aciduria Anaemia

Orotic Aciduria Megaloblastic Anaemia

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism 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

直系同源

种属 基因名 来源 基因 ID
Bos taurus GMPS VGNC VGNC:29443
Canis familiaris GMPS VGNC VGNC:41296
Macaca mulatta GMPS VGNC VGNC:73084
Mus musculus GMPS MGD MGI:2448526
Felis catus GMPS VGNC VGNC:62614
Rattus norvegicus GMPS RGD RGD:1310063