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 catalyz... See more...

Aliases for GMPS Gene

Aliases for GMPS Gene

  • Guanine Monophosphate Synthase 2 3 5
  • GMP Synthase [Glutamine-Hydrolyzing] 3 4
  • Guanine Monophosphate Synthetase 2 3
  • Glutamine Amidotransferase 3 4
  • GMP Synthetase 3 4
  • GMP Synthase 2 3
  • EC 6.3.5.2 4 50
  • GATD7 2 3
  • Guanosine 5'-Monophosphate Synthase 3
  • Testicular Tissue Protein Li 82 3
  • MLL/GMPS Fusion Protein 3
  • GMPS 5

External Ids for GMPS Gene

Previous GeneCards Identifiers for GMPS Gene

  • GC03P152441
  • GC03P156575
  • GC03P156869
  • GC03P156909
  • GC03P157071
  • GC03P155588
  • GC03P152982

Summaries for GMPS Gene

Entrez Gene Summary for GMPS Gene

  • 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]

GeneCards Summary for GMPS Gene

GMPS (Guanine Monophosphate Synthase) is a Protein Coding gene. Diseases associated with GMPS include Pallister-Killian Syndrome and Progressive Myoclonus Epilepsy 6. Among its related pathways are purine nucleotides de novo biosynthesis and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include enzyme binding and transferase activity.

UniProtKB/Swiss-Prot Summary for GMPS Gene

  • Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division.

Gene Wiki entry for GMPS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GMPS Gene

Genomics for GMPS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GMPS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GMPS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GMPS

Top Transcription factor binding sites by QIAGEN in the GMPS gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • p53

Genomic Locations for GMPS Gene

Latest Assembly
chr3:155,869,430-155,944,020
(GRCh38/hg38)
Size:
74,591 bases
Orientation:
Plus strand

Previous Assembly
chr3:155,588,439-155,661,809
(GRCh37/hg19 by Entrez Gene)
Size:
73,371 bases
Orientation:
Plus strand

chr3:155,588,325-155,661,815
(GRCh37/hg19 by Ensembl)
Size:
73,491 bases
Orientation:
Plus strand

Genomic View for GMPS Gene

Genes around GMPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMPS Gene

Proteins for GMPS Gene

  • Protein details for GMPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49915-GUAA_HUMAN
    Recommended name:
    GMP synthase [glutamine-hydrolyzing]
    Protein Accession:
    P49915
    Secondary Accessions:
    • A8K639
    • B4DXV7
    • F8W720

    Protein attributes for GMPS Gene

    Size:
    693 amino acids
    Molecular mass:
    76715 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GMPS Gene

    Alternative splice isoforms for GMPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GMPS Gene

Selected DME Specific Peptides for GMPS Gene

P49915:
  • HIDNGFMR
  • HHYEGAVVILDAGAQYGKVIDRRVRELFVQSEIFPLETPA
  • GRELGLPE
  • PEEKRKIIG
  • GGPNSVY
  • EPLKDFHKDEVR
  • RHPFPGPG
  • LAQGTLRPDLIES
  • PVLGICYG

Post-translational modifications for GMPS Gene

  • Ubiquitination at Lys65, Lys182, Lys183, Lys204, Lys389, Lys412, Lys457, and Lys535
  • Modification sites at PhosphoSitePlus

Other Protein References for GMPS Gene

Domains & Families for GMPS Gene

Gene Families for GMPS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GMPS Gene

InterPro:
Blocks:
  • Glutamine amidotransferase class-I
  • GMP synthase, C terminal
  • Anthranilate synthase component II signature

Suggested Antigen Peptide Sequences for GMPS Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79481, highly similar to GMP synthase (glutamine-hydrolyzing) (EC6.3.5.2) (A8K639_HUMAN)
  • cDNA FLJ57604, highly similar to GMP synthase (glutamine-hydrolyzing) (EC 6.3.5.2) (B4DUT7_HUMAN)
  • Glutamine amidotransferase (GUAA_HUMAN)
genes like me logo Genes that share domains with GMPS: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GMPS Gene

Function for GMPS Gene

Molecular function for GMPS Gene

UniProtKB/Swiss-Prot Function:
Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + L-glutamine + XMP = AMP + diphosphate + GMP + 2 H(+) + L-glutamate; Xref=Rhea:RHEA:11680, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57464, ChEBI:CHEBI:58115, ChEBI:CHEBI:58359, ChEBI:CHEBI:456215; EC=6.3.5.2;.
GENATLAS Biochemistry:
guanosine 5'-monophosphate synthetase

Enzyme Numbers (IUBMB) for GMPS Gene

Phenotypes From GWAS Catalog for GMPS Gene

Gene Ontology (GO) - Molecular Function for GMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003921 GMP synthase activity TAS,IDA 8081953
GO:0003922 GMP synthase (glutamine-hydrolyzing) activity EXP 7706277
GO:0005524 ATP binding IEA --
GO:0016462 pyrophosphatase activity IEA --
genes like me logo Genes that share ontologies with GMPS: view
genes like me logo Genes that share phenotypes with GMPS: view

miRNA for GMPS Gene

miRTarBase miRNAs that target GMPS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPS

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GMPS Gene

Localization for GMPS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMPS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GMPS gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GMPS: view

Pathways & Interactions for GMPS Gene

genes like me logo Genes that share pathways with GMPS: view

UniProtKB/Swiss-Prot P49915-GUAA_HUMAN

  • Pathway: Purine metabolism; GMP biosynthesis; GMP from XMP (L-Gln route): step 1/1.

SIGNOR curated interactions for GMPS Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006177 GMP biosynthetic process IDA,IEA --
GO:0006541 glutamine metabolic process IEA --
GO:0009113 purine nucleobase biosynthetic process TAS 8089153
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with GMPS: view

Drugs & Compounds for GMPS Gene

(15) Drugs for GMPS Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Target 324
L-Glutamine Approved, Investigational Nutra Enzyme, substrate 0
Azathioprine Approved Pharma Enzyme, substrate 237
Ammonia Approved Pharma 0
Water Approved Pharma 0

(17) Additional Compounds for GMPS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Thioguanylic acid
  • 6-Thioguanosine monophosphoric acid
  • 6-TG Nucleotide
  • 6-Thioguanine nucleotide
  • 6-Thioguanosine-5'-phosphate
6-Thioxanthine 5'-monophosphate
  • 6-Thioxanthine 5'-monophosphoric acid
  • TXMP
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulfanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonate
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulphanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonate
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulphanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonic acid
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
Xanthylic acid
  • (9-D-Ribosylxanthine)-5'-phosphate
  • Xanthosine 5'-phosphate
  • Xanthosine monophosphate
  • XMP
  • (9-D-Ribosylxanthine)-5'-phosphoric acid
523-98-8

(1) ApexBio Compounds for GMPS Gene

Compound Action Cas Number
Azathioprine 446-86-6
genes like me logo Genes that share compounds with GMPS: view

Drug products for research

Transcripts for GMPS Gene

mRNA/cDNA for GMPS Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPS

Alternative Splicing Database (ASD) splice patterns (SP) for GMPS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2:

Relevant External Links for GMPS Gene

GeneLoc Exon Structure for
GMPS

Expression for GMPS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GMPS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GMPS Gene

This gene is overexpressed in Lymph node (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GMPS Gene



Protein tissue co-expression partners for GMPS Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GMPS

SOURCE GeneReport for Unigene cluster for GMPS Gene:

Hs.591314

Evidence on tissue expression from TISSUES for GMPS Gene

  • Nervous system(3.3)
  • Liver(2.6)
  • Blood(2.3)
  • Kidney(2.3)
  • Intestine(2.3)
  • Heart(2.2)
  • Skin(2.2)
  • Muscle(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with GMPS: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GMPS Gene

Orthologs for GMPS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GMPS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GMPS 29 30
  • 99.66 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GMPS 30
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GMPS 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GMPS 29 30
  • 95.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GMPS 29 30
  • 94.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gmps 29
  • 92.02 (n)
Mouse
(Mus musculus)
Mammalia Gmps 29 16 30
  • 91.58 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GMPS 29 30
  • 82.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GMPS 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gmps 29
  • 80.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11147 29
Zebrafish
(Danio rerio)
Actinopterygii gmps 29 30
  • 74.18 (n)
OneToOne
zgc66002 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6472 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010139 29
  • 58.63 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta bur 29 30 31
  • 58.23 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea M106.4 29 31
  • 56.05 (n)
gmps-1 30
  • 46 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUA1 30 32
  • 42 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3703 30
  • 59 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4241 29
Species where no ortholog for GMPS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GMPS Gene

ENSEMBL:
Gene Tree for GMPS (if available)
TreeFam:
Gene Tree for GMPS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GMPS: view image
Alliance of Genome Resources:
Additional Orthologs for GMPS

Paralogs for GMPS Gene

Pseudogenes.org Pseudogenes for GMPS Gene

genes like me logo Genes that share paralogs with GMPS: view

No data available for Paralogs for GMPS Gene

Variants for GMPS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMPS Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs139844459 Benign: not provided 155,935,018(+) T/C
NM_003875.3(GMPS):c.1779T>C (p.Phe593=)
SYNONYMOUS
rs187670203 Benign: not provided 155,914,549(+) C/T
NM_003875.3(GMPS):c.1017C>T (p.Ile339=)
SYNONYMOUS
rs35910218 Benign: not provided 155,910,873(+) G/A
NM_003875.3(GMPS):c.708G>A (p.Thr236=)
SYNONYMOUS
rs61750370 Benign: not provided 155,931,787(+) A/C
NM_003875.3(GMPS):c.1583A>C (p.Tyr528Ser)
MISSENSE
rs61758982 Benign: not provided 155,893,704(+) A/G
NM_003875.3(GMPS):c.209+5A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GMPS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GMPS Gene

Variant ID Type Subtype PubMed ID
esv3598287 CNV loss 21293372
esv3598288 CNV loss 21293372
esv3598289 CNV loss 21293372

Variation tolerance for GMPS Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMPS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GMPS
Leiden Open Variation Database (LOVD)
GMPS

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMPS Gene

Disorders for GMPS Gene

MalaCards: The human disease database

(3) MalaCards diseases for GMPS Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GMPS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GUAA_HUMAN
  • Note=A chromosomal aberration involving GMPS is found in acute myeloid leukemias. Translocation t(3,11)(q25,q23) with KMT2A/MLL1.

Additional Disease Information for GMPS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GMPS: view

No data available for Genatlas for GMPS Gene

Publications for GMPS Gene

  1. Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA. (PMID: 8089153) Hirst M … Lou L (The Journal of biological chemistry 1994) 2 3 4 22
  2. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. (PMID: 20659789) Jia P … Zhao Z (Schizophrenia research 2010) 3 40
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  4. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 40
  5. EBNA1-mediated recruitment of a histone H2B deubiquitylating complex to the Epstein-Barr virus latent origin of DNA replication. (PMID: 19834552) Sarkari F … Frappier L (PLoS pathogens 2009) 3 22

Products for GMPS Gene

Sources for GMPS Gene