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    GMPS guanine monophosphate synthase [ Homo sapiens (human) ]

    Gene ID: 8833, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GMPSprovided by HGNC
    Official Full Name
    guanine monophosphate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:4378
    See related
    Ensembl:ENSG00000163655 MIM:600358; AllianceGenome:HGNC:4378
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GATD7
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 20.3), thyroid (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GMPS in Genome Data Viewer
    Location:
    3q25.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (155869430..155944020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158644070..158718668)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155588439..155661809)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 33 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20722 Neighboring gene uncharacterized LOC105374174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:155588473-155589232 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:155626010-155626276 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:155687822-155687989 Neighboring gene SET pseudogene 14 Neighboring gene uncharacterized LOC124906383

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human GMP synthetase. Page T, et al. Int J Biochem, 1984. PMID 6698284
    2. The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine. Nakamura J, et al. J Biol Chem, 1995 Oct 6. PMID 7559506
    3. 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, et al. Eur J Hum Genet, 1997 Mar-Apr. PMID 9195163
    4. Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway. Wang J, et al. Int J Oncol, 2021 Apr. PMID 33649833, Free PMC Article
    5. Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease. Roberts RL, et al. Inflamm Bowel Dis, 2018 Nov 29. PMID 29788244

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
      Title: The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
    2. Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.
      Title: Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.
    3. Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.
      Title: Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.
    4. The GMPS SNP rs61750370 may be a reliable risk factor for extreme 6MMP preferential metabolism in patients with inflammatory bowel disease
      Title: Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease.
    5. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant hypermethylation and decreased expression. The i(12p)-positive cells displayed global hypomethylation of gene-poor regions on 12p, a footprint previously associated with constitutional and acquired gains of whole chromosomes as well as with X-chromosome inactivation in females
      Title: Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
    6. Cytoplasmic sequestration of GMPS requires ubiquitylation by TRIM21.
      Title: Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization.
    7. analysis of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase
      Title: Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase.
    8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
    9. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GMP synthase (glutamine-hydrolyzing) activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables GMP synthase (glutamine-hydrolyzing) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GMP synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GMP synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within GMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine nucleobase biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in purine ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    GMP synthase [glutamine-hydrolyzing]
    Names
    GMP synthase
    GMP synthetase
    MLL/GMPS fusion protein
    glutamine amidotransferase
    guanine monophosphate synthetase
    guanosine 5'-monophosphate synthase
    testicular tissue protein Li 82
    NP_003866.1
    XP_011511565.1
    XP_016862911.1
    XP_047305100.1
    XP_047305101.1
    XP_047305102.1
    XP_054204247.1
    XP_054204248.1
    XP_054204249.1
    XP_054204250.1
    XP_054204251.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023247.1 RefSeqGene

      Range
      5001..72197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003875.3 → NP_003866.1  GMP synthase [glutamine-hydrolyzing]

      See identical proteins and their annotated locations for NP_003866.1

      Status: REVIEWED

      Source sequence(s)
      AC067721, BC012178, BG721087, CB159072
      Consensus CDS
      CCDS46941.1
      UniProtKB/Swiss-Prot
      A8K639, B4DXV7, F8W720, P49915
      UniProtKB/TrEMBL
      A0A140VJK6, Q53F90
      Related
      ENSP00000419851.1, ENST00000496455.7
      Conserved Domains (3) summary
      cd01742
      Location:28 → 207
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:28 → 693
      guaA; GMP synthase; Reviewed
      cd01997
      Location:238 → 692
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      155869430..155944020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513263.3 → XP_011511565.1  GMP synthase [glutamine-hydrolyzing] isoform X1

      UniProtKB/TrEMBL
      Q53F90
      Conserved Domains (3) summary
      cd01742
      Location:34 → 213
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:34 → 699
      guaA; GMP synthase; Reviewed
      cd01997
      Location:244 → 698
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

    2. XM_047449145.1 → XP_047305101.1  GMP synthase [glutamine-hydrolyzing] isoform X2

    3. XM_017007422.2 → XP_016862911.1  GMP synthase [glutamine-hydrolyzing] isoform X2

      UniProtKB/TrEMBL
      Q53F90
      Conserved Domains (3) summary
      cd01742
      Location:21 → 200
      GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase
      PRK00074
      Location:21 → 686
      guaA; GMP synthase; Reviewed
      cd01997
      Location:231 → 685
      GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

    4. XM_047449146.1 → XP_047305102.1  GMP synthase [glutamine-hydrolyzing] isoform X3

      Related
      ENSP00000295920.7, ENST00000295920.7

    5. XM_047449144.1 → XP_047305100.1  GMP synthase [glutamine-hydrolyzing] isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      158644070..158718668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348272.1 → XP_054204247.1  GMP synthase [glutamine-hydrolyzing] isoform X1

    2. XM_054348275.1 → XP_054204250.1  GMP synthase [glutamine-hydrolyzing] isoform X2

    3. XM_054348274.1 → XP_054204249.1  GMP synthase [glutamine-hydrolyzing] isoform X2

    4. XM_054348276.1 → XP_054204251.1  GMP synthase [glutamine-hydrolyzing] isoform X3

    5. XM_054348273.1 → XP_054204248.1  GMP synthase [glutamine-hydrolyzing] isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49915.1 GenPept UniProtKB/Swiss-Prot:P49915

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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