GMPS (guanine monphosphate synthetase)
2000-02-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
3q25.31
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
GATD7
FUSION GENES
DNA/RNA
Transcription
2212 bp mRNA; ORF: 2081 bp
Proteins
Description
693 amino acids; 76 kDa;there are two variant forms of human GMP synthetase; homodimerization; GMP synthetase contains two functional domains: a glutamine amidotransferase (glutaminase domain, with a conserved Cys-His-Glu triad), responsible for glutamine hydrolysis, and a synthetase domain; responsible for ATP hydrolysis and GMP formation
Expression
higher in proliferating, transformed cells than in nontransformed cells; in normal cells, higher expression in fibroblasts, followed by bone marrow, leukocytes, erythrocytes, placenta, and liver
Localisation
cytoplasmic
Function
enzyme of the de novo synthesis of guanine nucleotides: amidotransferase that catalyzes the amination of xanthosine 5 prime monophosphate to form GMP in the presence of ATP and glutamine; GTP is also involved in many enzymatic reactions important for cell division.
Implicated in
Entity name
Disease
treatment related acute non lymphoblastic leukemia (M4 AML)
Hybrid gene
fusion of MLL to GMPS
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|
Other Information
Locus ID:
NCBI: 8833
MIM: 600358
HGNC: 4378
Ensembl: ENSG00000163655
Variants:
dbSNP: 8833
ClinVar: 8833
TCGA: ENSG00000163655
COSMIC: GMPS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163655 | ENST00000295920 | P49915 |
| ENSG00000163655 | ENST00000496455 | P49915 |
| ENSG00000163655 | ENST00000496455 | A0A140VJK6 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33649833 | 2021 | Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway. | 7 |
| 34520390 | 2021 | The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis. | 4 |
| 33649833 | 2021 | Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway. | 7 |
| 34520390 | 2021 | The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis. | 4 |
| 32414791 | 2020 | Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway. | 4 |
| 32414791 | 2020 | Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway. | 4 |
| 29788244 | 2018 | Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease. | 0 |
| 29788244 | 2018 | Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease. | 0 |
| 26890086 | 2016 | Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. | 5 |
| 26890086 | 2016 | Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. | 5 |
| 24462112 | 2014 | Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization. | 64 |
| 24462112 | 2014 | Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization. | 64 |
| 21981925 | 2011 | Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase. | 127 |
| 21981925 | 2011 | Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase. | 127 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
Citation
Jean-Loup Huret
GMPS (guanine monphosphate synthetase)
Atlas Genet Cytogenet Oncol Haematol. 2000-02-01
Online version: http://atlasgeneticsoncology.org/gene/229/gmps
