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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GMPS Gene

protein-coding   GIFtS: 67
GCID: GC03P155588

Guanine Monphosphate Synthase

(Previous name: guanine monphosphate synthetase)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Guanine Monphosphate Synthase1 2     EC 6.3.5.23 8
Guanine Monphosphate Synthetase1 2     GMP Synthase [Glutamine-Hydrolyzing]2
GMP Synthase1 2     Guanosine 5'-Monophosphate Synthase2
Glutamine Amidotransferase2 3     MLL/GMPS Fusion Protein2
GMP Synthetase2 3     

External Ids:    HGNC: 43781   Entrez Gene: 88332   Ensembl: ENSG000001636557   OMIM: 6003585   UniProtKB: P499153   

Export aliases for GMPS gene to outside databases

Previous GC identifers: GC03P152441 GC03P156575 GC03P156869 GC03P156909 GC03P157071 GC03P152982


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 monphosphate synthase) is a protein-coding gene. Diseases associated with GMPS include oral cancer, and intrahepatic cholangiocarcinoma, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include pyrophosphatase activity and GMP synthase (glutamine-hydrolyzing) activity.

UniProtKB/Swiss-Prot: GUAA_HUMAN, P49915
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

Gene Wiki entry for GMPS (GMP synthase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GMPS gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   p53   E2F-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGMPS promoter sequence
   Search SABiosciences Chromatin IP Primers for GMPS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GMPS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q24   Ensembl cytogenetic band:  3q25.31   HGNC cytogenetic band: 3q25.31

GMPS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GMPS gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P155588:  view genomic region     (about GC identifiers)

Start:
155,588,325 bp from pter      End:
155,658,457 bp from pter
Size:
70,133 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GUAA_HUMAN, P49915 (See protein sequence)
Recommended Name: GMP synthase [glutamine-hydrolyzing]  
Size: 693 amino acids; 76715 Da
Subunit: Homodimer (By similarity)
Subcellular location: Cytoplasm
2 PDB 3D structures from and Proteopedia for GMPS:
2VPI (3D)        2VXO (3D)    

Explore the universe of human proteins at neXtProt for GMPS: NX_P49915

Explore proteomics data for GMPS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49915

  • 4/9 DME Specific Peptides for GMPS (P49915) (see all 9)
     GGPNSVY  GRELGLPE  HIDNGFMR  RHPFPGPG 

    GMPS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GMPS Protein Expression
    REFSEQ proteins: NP_003866.1  
    ENSEMBL proteins: 
     ENSP00000419851   ENSP00000295920  
    Reactome Protein details: P49915
    Human Recombinant Protein Products for GMPS: 
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    Cloud-Clone Corp. Proteins for GMPS 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    GMPS for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GMPS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001674 GMP_synth_C
     IPR025777 GMPS_ATP_PPase_dom
     IPR004739 GMP_synth_N
     IPR022310 NAD/GMP_synthase
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry P49915

    ProtoNet protein and cluster: P49915

    3 Blocks protein domains:
    IPB000991 Glutamine amidotransferase class-I
    IPB001674 GMP synthase
    IPB006220 Anthranilate synthase component II signature


    UniProtKB/Swiss-Prot: GUAA_HUMAN, P49915
    Similarity: Contains 1 glutamine amidotransferase type-1 domain
    Similarity: Contains 1 GMPS ATP-PPase (ATP pyrophosphatase) domain


    GMPS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GUAA_HUMAN, P49915
    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
    Catalytic activity: ATP + XMP + L-glutamine + H(2)O = AMP + diphosphate + GMP + L-glutamate

         Genatlas biochemistry entry for GMPS:
    guanosine 5'-monophosphate synthetase

         Enzyme Number (IUBMB): EC 6.3.5.21 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003921GMP synthase activity TAS8089153
    GO:0003922GMP synthase (glutamine-hydrolyzing) activity IEA--
    GO:0004066asparagine synthase (glutamine-hydrolyzing) activity ----
    GO:0005524ATP binding IEA--
    GO:0016462pyrophosphatase activity IEA--
         
    GMPS for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GMPS 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GMPS About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Purine metabolism
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.33
    Metabolism of nucleotides0.42
    3superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli)
    guanosine ribonucleotides de novo biosynthesis0.67
    4adenosine ribonucleotides de novo biosynthesis
    superpathway of purine nucleotides de novo biosynthesis I0.49
    5Purine metabolism
    Purine metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for GMPS
        superpathway of purine nucleotides de novo biosynthesis I
    guanosine ribonucleotides de novo biosynthesis

    4        Reactome Pathways for GMPS
        Metabolism of nucleotides
    Metabolism
    Purine ribonucleoside monophosphate biosynthesis
    Purine metabolism

    1 PharmGKB Pathway for GMPS
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3         Kegg Pathways  (Kegg details for GMPS):
        Purine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: GUAA_HUMAN, P49915
    Pathway: Purine metabolism; GMP biosynthesis; GMP from XMP (L-Gln route): step 1/1


    GMPS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GMPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/644 Interacting proteins for GMPS (P499152, 3 ENSP000004198514) via UniProtKB, MINT, STRING, and/or I2D (see all 644)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMC3P179802, 3MINT-7947479 I2D: score=1 
    PSMD2Q132002, 3MINT-7947479 I2D: score=1 
    UBA5Q9GZZ92, 3MINT-7947479 I2D: score=1 
    ENSG00000206435P305043I2D: score=1 
    ENSG00000206452P305043I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006177GMP biosynthetic process ----
    GO:0006529asparagine biosynthetic process ----
    GO:0006541glutamine metabolic process IEA--

    GMPS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GMPS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for GMPS

    Browse Tocris compounds for GMPS (GUAA)

    10/12 HMDB Compounds for GMPS (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    AmmoniaNH3 (see all 31)7664-41-7--
    FamotidineAmfamox (see all 83)76824-35-6--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for GMPS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--16142895 17139284 17016423 12069605 7907328
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate16142895 17408246 16809541 17159152

    10/20 Novoseek inferred chemical compound relationships for GMPS gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prfar 95 1 16142895 (1)
    imidazole glycerol phosphate 92.6 5 15363855 (1), 15849257 (1), 16142895 (1)
    decoyinine 90.6 3 7706277 (1), 8527935 (1), 2391493 (1)
    xanthosine-5'-monophosphate 82.9 5 7706277 (3), 7559506 (1)
    guanylate 78.1 56 7706277 (7), 7559506 (6), 8089153 (6), 8527935 (6) (see all 17)
    glutamine 77.6 45 17159152 (2), 7559506 (2), 16030023 (2), 16142895 (2) (see all 26)
    carbamoyl phosphate 73.1 4 11080587 (1), 2347042 (1), 1348059 (1)
    acivicin 67.3 2 7559506 (2)
    pyridoxal 5-phosphate 58.3 6 19074821 (1), 17159152 (1), 16030023 (1)
    aicar 56.6 2 16859645 (1), 16142895 (1)

    Search CenterWatch for drugs/clinical trials and news about GMPS / GUAA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GMPS gene: 
    NM_003875.2  

    Unigene Cluster for GMPS:

    Guanine monphosphate synthetase
    Hs.591314  [show with all ESTs]
    Unigene Representative Sequence: NM_003875
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496455(uc003faq.3 uc011bom.2) ENST00000295920 ENST00000476145

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF297746.1 AK223399.1 AK291504.1 AK300787.1 AK302148.1 AK315832.1 BC012178.1 U10860.1 

    13 DOTS entries:

    DT.413706  DT.92023667  DT.92024864  DT.100795441  DT.100823193  DT.95106687  DT.100823194  DT.95106665 
    DT.100804905  DT.86845422  DT.91744093  DT.95106676  DT.95106677 

    24/245 AceView cDNA sequences (see all 245):

    AU280647 CB127845 AV697641 AA195709 BI831909 CB158353 BU181187 CB127348 
    BX281075 AA992839 BX111625 CA424575 BU145962 BQ928370 BP381046 BM793289 
    BP871124 AL602533 N59764 CA418318 AI753769 CB119305 BC012178 AI216479 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for GMPS    About this scheme

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


    ECgene alternative splicing isoforms for GMPS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GMPS expression in normal human tissues (normalized intensities)      GMPS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGGTATAC
    GMPS Expression
    About this image


    GMPS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See GMPS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GMPS

    SOURCE GeneReport for Unigene cluster: Hs.591314
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for GMPS gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gmps1 , 5 guanine monophosphate synthetase1, 5 91.58(n)1
    97.98(a)1
      3 (30.08 cM)5
    2293631  NM_001033300.21  NP_001028472.21 
     639761065 
    chicken
    (Gallus gallus)
    Aves GMPS1 guanine monphosphate synthetase 82.83(n)
    94.52(a)
      425028  NM_001006556.1  NP_001006556.1 
    lizard
    (Anolis carolinensis)
    Reptilia GMPS6
    Uncharacterized protein
    94(a)
    1 ↔ 1
    3(15759455-15835869)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.111472 Xenopus laevis transcribed sequence with strong similarity more 80.83(n)    CD326062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660022 guanine monophosphate synthetase 77.12(n)   393559  BC056730.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bur1 , 3 GMP biosynthesis GMP synthase
    (glutamine hydrolyzing)3
    burgundy1
    58(a)3
    58.28(n)1
    59.67(a)1
      458301  NM_138759.31  NP_620114.31 
    worm
    (Caenorhabditis elegans)
    Secernentea M106.41 , 3 GMP synthase3
    Protein M106.41
    51(a)3
    56.2(n)1
    54.67(a)1
      II(10864066-10865188)3
    1746721  NM_001083162.21  NP_001076631.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GUA1(YMR217W)4 GMP synthase; highly conserved enzyme that catalyzes more   --   13(701790-703367) 855257  NP_013944.1 


    ENSEMBL Gene Tree for GMPS (if available)
    TreeFam Gene Tree for GMPS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GMPS gene

    GMPS for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GMPS
    PGOHUM00000245819 PGOHUM00000233168


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1320 SNPs in GMPS are shown (see all 1320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1120520291,2
    C--153011605(+) TTTTCT/-TTTTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1918956981,2
    --155568013(+) CCACCA/GCACCT 1 -- us2k10--------
    rs600419261,2
    C,F--155568032(+) AGTCTG/TTATTT 1 -- us2k12Minor allele frequency- T:0.06WA 120
    rs1437907601,2
    --155568091(+) AGAAAC/TACTGA 1 -- us2k10--------
    rs1129013861,2
    C--155568117(+) AAAGCT/ACCTGA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs622867921,2
    C--155568414(+) GGCTCA/CCTGCA 1 -- us2k10--------
    rs67777761,2
    C,A,H--155568485(+) TAGGCA/GCATGC 1 -- us2k19Minor allele frequency- G:0.00NA WA CSA 16
    rs1136778321,2
    C,F--155568497(+) ACCACG/ACCTGG 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs622867931,2
    C,F--155568554(+) GCCTGT/GTCTGG 1 -- us2k15Minor allele frequency- G:0.08WA NA EA 362
    rs1843726401,2
    --155568750(+) AAGTTA/GAGGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GMPS (155588325 - 155658457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GMPS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877681CNV Loss21882294
    nsv877680CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GMPS
    DNA2.0 Custom Variant and Variant Library Synthesis for GMPS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600358   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: GUAA_HUMAN, P49915
  • Note=A chromosomal aberration involving GMPS is found in acute myeloid leukemias. Translocation
    t(3,11)(q25,q23) with KMT2A/MLL1

  • 10 diseases for GMPS:    About MalaCards
    oral cancer    intrahepatic cholangiocarcinoma    cholangiocarcinoma    acute myeloid leukemia
    insulin resistance    pneumonia    myeloid leukemia    tuberculosis
    schizophrenia    leukemia


    GMPS for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GMPS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 1353938 (1)

    Genetic Association Database (GAD): GMPS
    Human Genome Epidemiology (HuGE) Navigator: GMPS (3 documents)

    Export disorders for GMPS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GMPS gene, integrated from 9 sources (see all 92):
    (articles sorted by number of sources associating them with GMPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA. (PubMed id 8089153)1, 2, 3, 9 Hirst M.... Lou L. (1994)
    2. Common variants conferring risk of schizophrenia: a p athway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (2010)
    3. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    4. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2 , and GMPS genes in Japanese individuals. (PubMed id 20045992)1, 4 Kudo M....Hiratsuka M. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. t(3;11) translocation in treatment-related acute myeloid leukemia fuses MLL with the GMPS (guanosine 5-prime monophosphate synthetase) gene. (PubMed id 11110714)1, 2 Pegram L.D.... Felix C.A. (2000)
    7. Assignment and ordering of twenty-three unique NotI-linking clones containing expressed genes including the guanosine 5'-monophosphate synthetase gene to human chromosome 3. (PubMed id 9195163)1, 3 Fedorova L....Zabarovsky E.R. (1997)
    8. Biochemical characterization of human GMP synthetase. (PubMed id 7706277)1, 9 Nakamura J. and Lou L. (1995)
    9. The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine. (PubMed id 7559506)1, 9 Nakamura J....Lou L. (1995)
    10. Glutamine-dependent nitrogen transfer in Escherichia coli asparagine synthetase B. Searching for the catalytic triad. (PubMed id 7907328)7, 9 Boehlein S.K....Schuster S.M. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8833 HGNC: 4378 AceView: GMPS Ensembl:ENSG00000163655 euGenes: HUgn8833
    ECgene: GMPS Kegg: 8833 H-InvDB: GMPS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GMPS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GMPS Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GMPS gene:
    Search GeneIP for patents involving GMPS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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