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GMPS guanine monophosphate synthase [ Homo sapiens (human) ]

Gene ID: 8833, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (155869430..155944020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158644070..158718668)
105.20220307 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
  • 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. 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
  2. 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
  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. 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
  5. Human GMP synthetase. Page T, et al. Int J Biochem, 1984. PMID 6698284

See all (118) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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_2023_10

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

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