MGP Database

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MGP003711

UniProt Annotations

Entry Information
Gene Nameguanine monphosphate synthase
Protein EntryGUAA_HUMAN
UniProt IDP49915
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49915-1; Sequence=Displayed; Name=2; IsoId=P49915-2; Sequence=VSP_053933; Note=No experimental confirmation available.;
Catalytic ActivityATP + XMP + L-glutamine + H(2)O = AMP + diphosphate + GMP + L-glutamate.
DiseaseNote=A chromosomal aberration involving GMPS is found in acute myeloid leukemias. Translocation t(3,11)(q25,q23) with KMT2A/MLL1.
FunctionInvolved 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.
PathwayPurine metabolism; GMP biosynthesis; GMP from XMP (L-Gln route): step 1/1.
SimilarityContains 1 glutamine amidotransferase type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00605}.
SimilarityContains 1 GMPS ATP-PPase (ATP pyrophosphatase) domain. {ECO:0000255|PROSITE-ProRule:PRU00886}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000269|PubMed:23816837}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GMPSID229.html";
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