GMPS (guanine monphosphate synthetase)

2000-02-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
GMPS
LOCATION
3q25.31
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
8833
ALIAS
GATD7
FUSION GENES
Show Gene Fusions

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
t(3;11)(q25;q23)
Disease
treatment related acute non lymphoblastic leukemia (M4 AML)
Hybrid gene
fusion of MLL to GMPS

Article Bibliography

Pubmed IDLast YearTitleAuthors
91951631997Assignment and ordering of twenty-three unique NotI-linking clones containing expressed genes including the guanosine 5'-monophosphate synthetase gene to human chromosome 3.Fedorova L et al
80891531994Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA.Hirst M et al
85279351995High-level production from a baculovirus expression system and biochemical characterization of human GMP synthetase.Lou L et al
75595061995The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine.Nakamura J et al
66982841984Human GMP synthetase.Page T et al
85484581996The crystal structure of GMP synthetase reveals a novel catalytic triad and is a structural paradigm for two enzyme families.Tesmer JJ et al

Other Information

Locus ID:

NCBI: 8833
MIM: 600358
HGNC: 4378
Ensembl: ENSG00000163655

Variants:

dbSNP: 8833
ClinVar: 8833
TCGA: ENSG00000163655
COSMIC: GMPS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163655ENST00000295920P49915
ENSG00000163655ENST00000496455P49915
ENSG00000163655ENST00000496455A0A140VJK6

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Drug metabolism - other enzymesKEGGko00983
Purine metabolismKEGGhsa00230
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGM00050
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGhsa_M00050
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817

References

Pubmed IDYearTitleCitations
336498332021Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.7
345203902021The 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
336498332021Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.7
345203902021The 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
324147912020Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.4
324147912020Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.4
297882442018Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease.0
297882442018Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease.0
268900862016Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.5
268900862016Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.5
244621122014Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization.64
244621122014Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization.64
219819252011Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase.127
219819252011Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase.127
202019262010Human 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/teaching-explorer/case-report-explorer/hgnc