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GMPS Gene

protein-coding   GIFtS: 68
GCID: GC03P155588

Guanine Monphosphate Synthase

(Previous name: guanine monphosphate synthetase)
  See GMPS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nephronophthisis 13, and acute myeloid leukemia, adult. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for GMPS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
155,661,815 bp from pter
Size:
73,491 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys65, Lys182, Lys183, Lys204, Lys389, Lys412, Lys457, Lys535
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GMPS (P49915) (see all 9)
     GGPNSVY  GRELGLPE  HIDNGFMR  RHPFPGPG 


    See GMPS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003866.1  
    ENSEMBL proteins: 
     ENSP00000419851   ENSP00000295920  
    Reactome Protein details: P49915

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    Novus Biologicals GMPS Lysates
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    ProSpec Recombinant Protein for GMPS
    Cloud-Clone Corp. Proteins for GMPS

     
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    antibodies-online proteins for GMPS (7 products) 

     
    antibodies-online peptides for GMPS

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    antibodies-online antibodies for GMPS (46 products) 

    GMPS Assay Products:

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    antibodies-online kits for GMPS (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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


    Find genes that share domains with GMPS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with GMPS           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GMPS

    miRNA
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    miRTarBase miRNAs that target GMPS:
    hsa-let-7e-5p (MIRT051523), hsa-mir-155-5p (MIRT020772), hsa-mir-23a-3p (MIRT050438), hsa-mir-18a-3p (MIRT040905)

    Block miRNA regulation of human, mouse, rat GMPS using miScript Target Protectors
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GMPS

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    In Situ Assay
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GUAA_HUMAN, P49915: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GMPS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GMPS About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2purine nucleotide salvage
    purine nucleotide salvage0.78
    guanosine nucleotides de novo biosynthesis0.00
    purine nucleotides de novo biosynthesis0.78
    guanosine ribonucleotides de novo biosynthesis0.00
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    4Purine metabolism (KEGG)
    Purine metabolism0.38
    5Glucuronidation
    Drug metabolism - other enzymes0.36


    Find genes that share SuperPaths with GMPS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for GMPS
        purine nucleotides de novo biosynthesis
    guanosine nucleotides de novo biosynthesis
    purine nucleotide salvage
    guanosine ribonucleotides de novo biosynthesis

    1 Reactome Pathway for GMPS
        Purine ribonucleoside monophosphate biosynthesis

    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GMPS
    Interactions:

        Search GeneGlobe Interaction Network for GMPS

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

    Selected Interacting proteins for GMPS (P499152, 3 ENSP000004198514) via UniProtKB, MINT, STRING, and/or I2D (see all 649)

    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): Selected biological process terms (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--

    Find genes that share ontologies with GMPS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GMPS
      Browse compounds at ApexBio 

    Browse Tocris compounds for GMPS (GUAA)

    Selected 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

    Selected 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)



    Find genes that share compounds with GMPS           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GMPS
      QuantiFast Probe-based Assays in human, mouse, rat GMPS

    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 

    Selected AceView cDNA sequences (see all 245):

    BX111625 BQ928370 BP381046 AL602533 AA195746 CB158353 CA424575 CB109650 
    BM841611 BP350766 AI753769 N59764 BG574420 BQ652073 BU145962 D25791 
    BM841826 BX504924 BM849835 BM853532 BC012178 CA418318 AW079585 BQ435369 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GMPS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
    GMPS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GMPS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591314
        Custom PCR Arrays for GMPS
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GMPS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GMPS

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

    Orthologs for GMPS gene from Selected species (see all 19)    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
    guanine monphosphate synthase
    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
    58.23(n)1
    59.67(a)1
      458301  NM_138759.31  NP_620114.31 
    worm
    (Caenorhabditis elegans)
    Secernentea M106.41 , 3 GMP synthase3
    M106.41
    51(a)3
    56.05(n)1
    54.52(a)1
      II(10864066-10865188)3
    1746721  NM_001083162.31  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)
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    Paralogs for GMPS gene

    Find genes that share paralogs with GMPS           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GMPS (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 - 155661815 bp)

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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 3 diseases for GMPS:    
    About MalaCards
    nephronophthisis 13    acute myeloid leukemia, adult    acute myeloid leukemia


    Find genes that share disorders with GMPS           About GenesLikeMe

    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)
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    PubMed articles for GMPS gene, integrated from 10 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. (J. Biol. Chem. 1994)
    2. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (Schizophr. Res. 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. (Alcohol. Clin. Exp. Res. 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. (Drug Metab. Pharmacokinet. 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. (Genome Res. 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. (Blood 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. (Eur. J. Hum. Genet. 1997)
    8. Biochemical characterization of human GMP synthetase. (PubMed id 7706277)1, 9 Nakamura J. and Lou L. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8833 HGNC: 4378 AceView: GMPS Ensembl:ENSG00000163655 euGenes: HUgn8833
    ECgene: GMPS Kegg: 8833 H-InvDB: GMPS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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