Human Gene GMPS (ENST00000496455.7_4) from GENCODE V47lift37
  Description: guanine monophosphate synthase (from RefSeq NM_003875.3)
Gencode Transcript: ENST00000496455.7_4
Gencode Gene: ENSG00000163655.16_7
Transcript (Including UTRs)
   Position: hg19 chr3:155,588,439-155,661,809 Size: 73,371 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr3:155,588,660-155,655,481 Size: 66,822 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:155,588,439-155,661,809)mRNA (may differ from genome)Protein (693 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GUAA_HUMAN
DESCRIPTION: RecName: Full=GMP synthase [glutamine-hydrolyzing]; EC=6.3.5.2; AltName: Full=GMP synthetase; AltName: Full=Glutamine amidotransferase;
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 + xanthosine 5'-phosphate + L-glutamine + H(2)O = AMP + diphosphate + GMP + L-glutamate.
PATHWAY: Purine metabolism; GMP biosynthesis; GMP from XMP (L-Gln route): step 1/1.
SUBUNIT: Homodimer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm.
DISEASE: Note=A chromosomal aberration involving GMPS is found in acute myeloid leukemias. Translocation t(3,11)(q25,q23) with MLL.
SIMILARITY: Contains 1 glutamine amidotransferase type-1 domain.
SIMILARITY: Contains 1 GMPS ATP-PPase (ATP pyrophosphatase) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GMPSID229.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GMPS
Diseases sorted by gene-association score: leukemia, acute myeloid* (19), pallister-killian syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.16 RPKM in Testis
Total median expression: 278.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.80221-0.397 Picture PostScript Text
3' UTR -1971.506328-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017926 - GATASE_1
IPR001674 - GMP_synth_C
IPR004739 - GMP_synth_N
IPR025777 - GMPS_ATP_PPase_dom
IPR022310 - NAD/GMP_synthase
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF00117 - Glutamine amidotransferase class-I
PF00958 - GMP synthase C terminal domain
PF02540 - NAD synthase
PF03054 - tRNA methyl transferase
PF06508 - Queuosine biosynthesis protein QueC
PF07722 - Peptidase C26

SCOP Domains:
52317 - Class I glutamine amidotransferase-like
52402 - Adenine nucleotide alpha hydrolases-like
54810 - GMP synthetase C-terminal dimerisation domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VPI - X-ray MuPIT 2VXO - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P49915
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003921 GMP synthase activity
GO:0003922 GMP synthase (glutamine-hydrolyzing) activity
GO:0005524 ATP binding
GO:0016462 pyrophosphatase activity
GO:0016874 ligase activity

Biological Process:
GO:0006164 purine nucleotide biosynthetic process
GO:0006177 GMP biosynthetic process
GO:0006541 glutamine metabolic process
GO:0009113 purine nucleobase biosynthetic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  HM005395 - Homo sapiens clone HTL-T-82 testicular tissue protein Li 82 mRNA, complete cds.
LF383793 - JP 2014500723-A/191296: Polycomb-Associated Non-Coding RNAs.
AK302148 - Homo sapiens cDNA FLJ57661 complete cds, highly similar to GMP synthase (glutamine-hydrolyzing) (EC 6.3.5.2).
AK223399 - Homo sapiens mRNA for guanine monophosphate synthetase variant, clone: FCC107G06.
AK300787 - Homo sapiens cDNA FLJ57604 complete cds, highly similar to GMP synthase (glutamine-hydrolyzing) (EC 6.3.5.2).
AK291504 - Homo sapiens cDNA FLJ75406 complete cds, highly similar to Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.
BC012178 - Homo sapiens guanine monphosphate synthetase, mRNA (cDNA clone MGC:20438 IMAGE:4653684), complete cds.
AK315832 - Homo sapiens cDNA, FLJ79481 complete cds, highly similar to GMP synthase (glutamine-hydrolyzing) (EC6.3.5.2).
U10860 - Human guanosine 5'-monophosphate synthase mRNA, complete cds.
DQ896621 - Synthetic construct Homo sapiens clone IMAGE:100011081; FLH195999.01L; RZPDo839B05153D guanine monphosphate synthetase (GMPS) gene, encodes complete protein.
EU176462 - Synthetic construct Homo sapiens clone IMAGE:100006525; FLH196006.01X; RZPDo839E11252D guanine monphosphate synthetase (GMPS) gene, encodes complete protein.
AF297748 - Homo sapiens MLL/GMPS fusion protein mRNA, partial cds.
AF297747 - Homo sapiens clone 1426-37 MLL/GMPS fusion protein mRNA, partial cds.
JD024859 - Sequence 5883 from Patent EP1572962.
JD024108 - Sequence 5132 from Patent EP1572962.
JD028459 - Sequence 9483 from Patent EP1572962.
LF351757 - JP 2014500723-A/159260: Polycomb-Associated Non-Coding RNAs.
LF351759 - JP 2014500723-A/159262: Polycomb-Associated Non-Coding RNAs.
JD023832 - Sequence 4856 from Patent EP1572962.
JD028719 - Sequence 9743 from Patent EP1572962.
LF351761 - JP 2014500723-A/159264: Polycomb-Associated Non-Coding RNAs.
LF351762 - JP 2014500723-A/159265: Polycomb-Associated Non-Coding RNAs.
LF351763 - JP 2014500723-A/159266: Polycomb-Associated Non-Coding RNAs.
LF351767 - JP 2014500723-A/159270: Polycomb-Associated Non-Coding RNAs.
LF351768 - JP 2014500723-A/159271: Polycomb-Associated Non-Coding RNAs.
LF351769 - JP 2014500723-A/159272: Polycomb-Associated Non-Coding RNAs.
JD257035 - Sequence 238059 from Patent EP1572962.
JD294133 - Sequence 275157 from Patent EP1572962.
JD421495 - Sequence 402519 from Patent EP1572962.
JD179108 - Sequence 160132 from Patent EP1572962.
LF351770 - JP 2014500723-A/159273: Polycomb-Associated Non-Coding RNAs.
LF351771 - JP 2014500723-A/159274: Polycomb-Associated Non-Coding RNAs.
LF351772 - JP 2014500723-A/159275: Polycomb-Associated Non-Coding RNAs.
LF351773 - JP 2014500723-A/159276: Polycomb-Associated Non-Coding RNAs.
JD019857 - Sequence 881 from Patent EP1572962.
JD034500 - Sequence 15524 from Patent EP1572962.
JD028746 - Sequence 9770 from Patent EP1572962.
JD497513 - Sequence 478537 from Patent EP1572962.
JD542049 - Sequence 523073 from Patent EP1572962.
JD542051 - Sequence 523075 from Patent EP1572962.
JD542050 - Sequence 523074 from Patent EP1572962.
JD457019 - Sequence 438043 from Patent EP1572962.
JD117521 - Sequence 98545 from Patent EP1572962.
MA619370 - JP 2018138019-A/191296: Polycomb-Associated Non-Coding RNAs.
MA587334 - JP 2018138019-A/159260: Polycomb-Associated Non-Coding RNAs.
MA587336 - JP 2018138019-A/159262: Polycomb-Associated Non-Coding RNAs.
MA587338 - JP 2018138019-A/159264: Polycomb-Associated Non-Coding RNAs.
MA587339 - JP 2018138019-A/159265: Polycomb-Associated Non-Coding RNAs.
MA587340 - JP 2018138019-A/159266: Polycomb-Associated Non-Coding RNAs.
MA587344 - JP 2018138019-A/159270: Polycomb-Associated Non-Coding RNAs.
MA587345 - JP 2018138019-A/159271: Polycomb-Associated Non-Coding RNAs.
MA587346 - JP 2018138019-A/159272: Polycomb-Associated Non-Coding RNAs.
MA587347 - JP 2018138019-A/159273: Polycomb-Associated Non-Coding RNAs.
MA587348 - JP 2018138019-A/159274: Polycomb-Associated Non-Coding RNAs.
MA587349 - JP 2018138019-A/159275: Polycomb-Associated Non-Coding RNAs.
MA587350 - JP 2018138019-A/159276: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5921 - glutaminyl-tRNAgln biosynthesis via transamidation
PWY-7221 - guanosine ribonucleotides de novo biosynthesis
PWY-7228 - guanosine nucleotides de novo biosynthesis
PWY-841 - purine nucleotides de novo biosynthesis
PWY66-409 - superpathway of purine nucleotide salvage

Reactome (by CSHL, EBI, and GO)

Protein P49915 (Reactome details) participates in the following event(s):

R-HSA-73792 XMP + L-Glutamine + ATP + H2O => GMP + L-Glutamate + AMP + pyrophosphate
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K639, B4DXV7, ENST00000496455.1, ENST00000496455.2, ENST00000496455.3, ENST00000496455.4, ENST00000496455.5, ENST00000496455.6, F8W720, GUAA_HUMAN, NM_003875, P49915, uc322shg.1, uc322shg.2
UCSC ID: ENST00000496455.7_4
RefSeq Accession: NM_003875.3
Protein: P49915 (aka GUAA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.