Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GMPS (guanine monphosphate synthetase)

Written2000-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesGMPS-PEN
HGNC (Hugo) GMPS
LocusID (NCBI) 8833
Atlas_Id 229
Location 3q25.31  [Link to chromosome band 3q25]
Location_base_pair Starts at 155588325 and ends at 155655520 bp from pter ( according to hg19-Feb_2009)  [Mapping GMPS.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CCDC141 (2q31.2) / GMPS (3q25.31)GMPS (3q25.31) / KMT2A (11q23.3)GMPS (3q25.31) / PQLC2L (3q25.32)
KMT2A (11q23.3) / GMPS (3q25.31)KPNA1 (3q21.1) / GMPS (3q25.31)

DNA/RNA

Transcription 2212 bp mRNA; ORF: 2081 bp

Protein

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

Note
Entity t(3;11)(q25;q23)
Disease treatment related acute non lymphoblastic leukemia (M4 AML)
Hybrid/Mutated Gene fusion of MLL to GMPS
  

Bibliography

Assignment 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, Kost-Alimova M, Gizatullin RZ, Alimov A, Zabarovska VI, Szeles A, Protopopov AI, Vorobieva NV, Kashuba VI, Klein G, Zelenin AV, Sheer D, Zabarovsky ER
European journal of human genetics : EJHG. 1997 ; 5 (2) : 110-116.
PMID 9195163
 
Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA.
Hirst M, Haliday E, Nakamura J, Lou L
The Journal of biological chemistry. 1994 ; 269 (38) : 23830-23837.
PMID 8089153
 
High-level production from a baculovirus expression system and biochemical characterization of human GMP synthetase.
Lou L, Nakamura J, Tsing S, Nguyen B, Chow J, Straub K, Chan H, Barnett J
Protein expression and purification. 1995 ; 6 (4) : 487-495.
PMID 8527935
 
The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine.
Nakamura J, Straub K, Wu J, Lou L
The Journal of biological chemistry. 1995 ; 270 (40) : 23450-23455.
PMID 7559506
 
Human GMP synthetase.
Page T, Bakay B, Nyhan WL
The International journal of biochemistry. 1984 ; 16 (1) : 117-120.
PMID 6698284
 
t(3;11)(q25;q23) fuses MLL with the GMPS (guanosine 5'-monophosphate synthetase) gene in treatment-related acute myeloid leukemia (AML).
Pegram LD, Megonigal MD, Lange BJ, Nowell PC, Rappaport EF, Felix CA
Blood. 1999 ; 94 (numero Suppl 1).
 
The crystal structure of GMP synthetase reveals a novel catalytic triad and is a structural paradigm for two enzyme families.
Tesmer JJ, Klem TJ, Deras ML, Davisson VJ, Smith JL
Nature structural biology. 1996 ; 3 (1) : 74-86.
PMID 8548458
 

Citation

This paper should be referenced as such :
Huret, JL
GMPS (guanine monphosphate synthetase)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):11-12.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GMPSID229.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(3;11)(q25;q23) KMT2A/GMPS

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Squamous Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)GMPS   4378
Cards
AtlasGMPSID229
Entrez_Gene (NCBI)GMPS  8833  guanine monophosphate synthase
Aliases
GeneCards (Weizmann)GMPS
Ensembl hg19 (Hinxton)ENSG00000163655 [Gene_View]  chr3:155588325-155655520 [Contig_View]  GMPS [Vega]
Ensembl hg38 (Hinxton)ENSG00000163655 [Gene_View]  chr3:155588325-155655520 [Contig_View]  GMPS [Vega]
ICGC DataPortalENSG00000163655
TCGA cBioPortalGMPS
AceView (NCBI)GMPS
Genatlas (Paris)GMPS
WikiGenes8833
SOURCE (Princeton)GMPS
Genomic and cartography
GoldenPath hg19 (UCSC)GMPS  -     chr3:155588325-155655520 +  3q25.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GMPS  -     3q25.31   [Description]    (hg38-Dec_2013)
EnsemblGMPS - 3q25.31 [CytoView hg19]  GMPS - 3q25.31 [CytoView hg38]
Mapping of homologs : NCBIGMPS [Mapview hg19]  GMPS [Mapview hg38]
OMIM600358   
Gene and transcription
Genbank (Entrez)AK223399 AK291504 AK300787 AK302148 AK315832
RefSeq transcript (Entrez)NM_003875
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_023247 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)GMPS
Cluster EST : UnigeneHs.591314 [ NCBI ]
CGAP (NCI)Hs.591314
Alternative Splicing GalleryENSG00000163655
Gene ExpressionGMPS [ NCBI-GEO ]   GMPS [ EBI - ARRAY_EXPRESS ]   GMPS [ SEEK ]   GMPS [ MEM ]
Gene Expression Viewer (FireBrowse)GMPS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8833
GTEX Portal (Tissue expression)GMPS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49915 (Uniprot)
NextProtP49915  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49915
Splice isoforms : SwissVarP49915 (Swissvar)
Catalytic activity : Enzyme6.3.5.2 [ Enzyme-Expasy ]   6.3.5.26.3.5.2 [ IntEnz-EBI ]   6.3.5.2 [ BRENDA ]   6.3.5.2 [ KEGG ]   
PhosPhoSitePlusP49915
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_1 (PS51273)    GMPS_ATP_PPASE (PS51553)   
Domains : Interpro (EBI)Class_I_gatase-like    GATASE    GMP_synth_C    GMP_synth_N    GMPS_ATP_PPase_dom    NAD/GMP_synthase    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)GATase (PF00117)    GMP_synt_C (PF00958)    NAD_synthase (PF02540)   
Domain families : Pfam (NCBI)pfam00117    pfam00958    pfam02540   
DMDM Disease mutations8833
Blocks (Seattle)GMPS
PDB (SRS)2VPI    2VXO   
PDB (PDBSum)2VPI    2VXO   
PDB (IMB)2VPI    2VXO   
PDB (RSDB)2VPI    2VXO   
Structural Biology KnowledgeBase2VPI    2VXO   
SCOP (Structural Classification of Proteins)2VPI    2VXO   
CATH (Classification of proteins structures)2VPI    2VXO   
SuperfamilyP49915
Human Protein AtlasENSG00000163655
Peptide AtlasP49915
HPRD10927
IPIIPI00029079   IPI01013391   IPI00945620   
Protein Interaction databases
DIP (DOE-UCLA)P49915
IntAct (EBI)P49915
FunCoupENSG00000163655
BioGRIDGMPS
STRING (EMBL)GMPS
ZODIACGMPS
Ontologies - Pathways
QuickGOP49915
Ontology : AmiGOGMP synthase activity  GMP synthase (glutamine-hydrolyzing) activity  ATP binding  cytoplasm  cytosol  cytosol  GMP biosynthetic process  glutamine metabolic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  pyrophosphatase activity  
Ontology : EGO-EBIGMP synthase activity  GMP synthase (glutamine-hydrolyzing) activity  ATP binding  cytoplasm  cytosol  cytosol  GMP biosynthetic process  glutamine metabolic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  pyrophosphatase activity  
Pathways : KEGGPurine metabolism    Drug metabolism - other enzymes   
REACTOMEP49915 [protein]
REACTOME PathwaysR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis [pathway]
NDEx NetworkGMPS
Atlas of Cancer Signalling NetworkGMPS
Wikipedia pathwaysGMPS
Orthology - Evolution
OrthoDB8833
GeneTree (enSembl)ENSG00000163655
Phylogenetic Trees/Animal Genes : TreeFamGMPS
Homologs : HomoloGeneGMPS
Homology/Alignments : Family Browser (UCSC)GMPS
Gene fusions - Rearrangements
Fusion : MitelmanGMPS/PQLC2L [3q25.31/3q25.32]  
Fusion : MitelmanKPNA1/GMPS [3q21.1/3q25.31]  [t(3;3)(q21;q25)]  
Fusion : COSMICKMT2A [11q23.3]  -  GMPS [3q25.31]  [fusion_1841]  
Fusion: TCGAGMPS 3q25.31 C3orf55 LUSC
Fusion: TCGAKPNA1 3q21.1 GMPS 3q25.31 LUAD
Fusion : TICdbKMT2A [11q23.3]  -  GMPS [3q25.31]
Polymorphisms : SNP, variants
NCBI Variation ViewerGMPS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GMPS
dbVarGMPS
ClinVarGMPS
1000_GenomesGMPS 
Exome Variant ServerGMPS
ExAC (Exome Aggregation Consortium)GMPS (select the gene name)
Genetic variants : HAPMAP8833
Genomic Variants (DGV)GMPS [DGVbeta]
Mutations
ICGC Data PortalGMPS 
TCGA Data PortalGMPS 
Broad Tumor PortalGMPS
OASIS PortalGMPS [ Somatic mutations - Copy number]
Cancer Gene: CensusGMPS 
Somatic Mutations in Cancer : COSMICGMPS 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GMPS
DgiDB (Drug Gene Interaction Database)GMPS
DoCM (Curated mutations)GMPS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GMPS (select a term)
intoGenGMPS
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:155588325-155655520  ENSG00000163655
CONAN: Copy Number AnalysisGMPS 
Mutations and Diseases : HGMDGMPS
OMIM600358   
MedgenGMPS
Genetic Testing Registry GMPS
NextProtP49915 [Medical]
TSGene8833
GENETestsGMPS
Huge Navigator GMPS [HugePedia]
snp3D : Map Gene to Disease8833
BioCentury BCIQGMPS
ClinGenGMPS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8833
Chemical/Pharm GKB GenePA28763
Clinical trialGMPS
Miscellaneous
canSAR (ICR)GMPS (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGMPS
EVEXGMPS
GoPubMedGMPS
iHOPGMPS
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:21:02 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.