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GMPS (guanine monphosphate synthetase)

Identity

Other namesGMPS-PEN
HGNC (Hugo) GMPS
LocusID (NCBI) 8833
Location 3q25.31
Location_base_pair Starts at 155588325 and ends at 155655520 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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

External links

Nomenclature
HGNC (Hugo)GMPS   4378
Entrez_Gene (NCBI)GMPS  8833  guanine monphosphate synthetase
Cards
AtlasGMPSID229
GeneCards (Weizmann)GMPS
Ensembl (Hinxton)ENSG00000163655 [Gene_View]  chr3:155588325-155655520 [Contig_View]  GMPS [Vega]
AceView (NCBI)GMPS
Genatlas (Paris)GMPS
SOURCE (Stanford)NM_003875
Genomic and cartography
GoldenPath (UCSC)GMPS  -  3q25.31   chr3:155588325-155655520 +  3q24   [Description]    (hg19-Feb_2009)
EnsemblGMPS - 3q24 [CytoView]
Mapping of homologs : NCBIGMPS [Mapview]
OMIM600358   601626   
Gene and transcription
Genbank (Entrez)AK223399 AK291504 AK300787 AK302148 AK315832
RefSeq transcript (SRS)NM_003875
RefSeq transcript (Entrez)NM_003875
RefSeq genomic (SRS)AC_000135 NC_000003 NC_018914 NG_023247 NT_005612 NW_001838884 NW_004078013
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_023247 NT_005612 NW_001838884 NW_004078013
Consensus coding sequences : CCDS (NCBI)GMPS
Cluster EST : UnigeneHs.591314 [ SRS ] Hs.591314 [ NCBI ]
CGAP (NCI)Hs.591314
Alternative Splicing : Fast-db (Paris)GSHG0021268
Alternative Splicing GalleryENSG00000163655
Gene ExpressionGMPS [ NCBI-GEO ]   GMPS [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49915 (SRS) P49915 (Uniprot)
NextProtP49915
With graphics : InterProP49915
Splice isoforms : SwissVarP49915(Swissvar)
Domaine pattern : Prosite (SRS)GATASE_TYPE_1 (PS51273)    GMPS_ATP_PPASE (PS51553)   
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_1 (PS51273)    GMPS_ATP_PPASE (PS51553)   
Domains : Interpro (SRS)GATASE_1    GMP_synth_C    GMP_synth_N    GMPS_ATP_PPase_dom    NAD/GMP_synthase    Rossmann-like_a/b/a_fold   
Domains : Interpro (EBI)GATASE_1    GMP_synth_C    GMP_synth_N    GMPS_ATP_PPase_dom    NAD/GMP_synthase    Rossmann-like_a/b/a_fold   
Related proteins : CluSTrP49915
Domain families : Pfam (SRS)GATase (PF00117)    GMP_synt_C (PF00958)    NAD_synthase (PF02540)   
Domain families : Pfam (Sanger)GATase (PF00117)    GMP_synt_C (PF00958)    NAD_synthase (PF02540)   
Domain families : Pfam (NCBI)pfam00117    pfam00958    pfam02540   
DMDM8833
Blocks (Seattle)P49915
PDB (SRS)2VPI    2VXO   
PDB (PDBSum)2VPI    2VXO   
PDB (IMB)2VPI    2VXO   
PDB (RSDB)2VPI    2VXO   
Human Protein AtlasENSG00000163655
HPRD10927
IPIIPI00029079   IPI01013391   IPI00945620   
Protein Interaction databases
DIP (DOE-UCLA)P49915
IntAct (EBI)P49915
FunCoupENSG00000163655
REACTOMEGMPS
Protein Interaction Database8833
BioGRIDGMPS
InParanoidP49915
Interologous Interaction database P49915
IntegromeDBGMPS
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GMPS
SNP (GeneSNP Utah)GMPS
SNP : HGBaseGMPS
Genetic variants : HAPMAPGMPS
Cancer Gene: CensusGMPS 
Somatic Mutations in Cancer : COSMICGMPS 
CONAN: Copy Number AnalysisGMPS 
Translocation Breakpoints in Cancer : TICdbGMPS 
Mutations and Diseases : HGMDGMPS
OMIM600358    601626   
GENETests600358    601626   
Disease Genetic AssociationGMPS
Huge Navigator GMPS [HugePedia]  GMPS [HugeCancerGEM]
Genomic VariantsGMPS  GMPS [DGVbeta]
ClinVarGMPS
snp3D : Map Gene to Disease8833
General knowledge
Homologs : HomoloGeneGMPS
Homology/Alignments : Family Browser (UCSC)GMPS
Phylogenetic Trees/Animal Genes : TreeFamGMPS
Catalytic activity : Enzyme6.3.5.2 [ Enzyme-Expasy ]   6.3.5.2 [ Enzyme-SRS ]   6.3.5.2 [ IntEnz-EBI ]   6.3.5.2 [ BRENDA ]   6.3.5.2 [ KEGG ]   
Chemical/Protein Interactions : CTD8833
Chemical/Pharm GKB GenePA28763
Clinical trialGMPS
Cancer Resource (Charite)ENSG00000163655
Ontology : AmiGOGMP synthase activity  GMP synthase (glutamine-hydrolyzing) activity  ATP binding  cytosol  purine nucleobase metabolic process  glutamine metabolic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  pyrophosphatase activity  small molecule metabolic process  nucleobase-containing small molecule metabolic process  
Ontology : EGO-EBIGMP synthase activity  GMP synthase (glutamine-hydrolyzing) activity  ATP binding  cytosol  purine nucleobase metabolic process  glutamine metabolic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  pyrophosphatase activity  small molecule metabolic process  nucleobase-containing small molecule metabolic process  
Pathways : KEGGPurine metabolismGlutamate metabolism
Other databases
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
PubGeneGMPS
iHOPGMPS

Bibliography

Human GMP synthetase.
Page T, Bakay B, Nyhan WL
The International journal of biochemistry. 1984 ; 16 (1) : 117-120.
PMID 6698284
 
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
 
Biochemical characterization of human GMP synthetase.
Nakamura J, Lou L
The Journal of biological chemistry. 1995 ; 270 (13) : 7347-7353.
PMID 7706277
 
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
 
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
 
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
 
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).
 
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Contributor(s)

Written02-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . GMPS (guanine monphosphate synthetase). Atlas Genet Cytogenet Oncol Haematol. February 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/GMPSID229.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37582/1/02-2000-GMPSID229.pdf   [ Bibliographic record ]

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indexed on : Fri Jun 14 16:37:38 CEST 2013

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