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MGP001237

UniProt Annotations

Entry Information
Gene Nameglutamate-ammonia ligase
Protein EntryGLNA_HUMAN
UniProt IDP15104
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-glutamate + NH(3) = ADP + phosphate + L-glutamine.
Catalytic ActivityL-glutamate = 4-aminobutanoate + CO(2).
CofactorName=biotin; Xref=ChEBI:CHEBI:57586; Evidence={ECO:0000250}; Note=Biotin. {ECO:0000250};
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
Developmental StageExpressed during early fetal stages. {ECO:0000269|PubMed:18662667}.
DiseaseCongenital systemic glutamine deficiency (CSGD) [MIM:610015]: Rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid. {ECO:0000269|PubMed:16267323}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts. {ECO:0000250, ECO:0000269|PubMed:18662667}.
InductionBy glucocorticoids. Vitamin D and the Wnt signaling pathway inhibit its expression and activity. {ECO:0000269|PubMed:18555765}.
InteractionSelf; NbExp=3; IntAct=EBI-746653, EBI-746653;
PtmUbiquitinated by ZNRF1. {ECO:0000250}.
SimilarityBelongs to the glutamine synthetase family. {ECO:0000305}.
Subcellular LocationCytoplasm. Mitochondrion {ECO:0000250}.
SubunitHomooctamer and homotetramer. Interacts with PALMD (By similarity). {ECO:0000250}.
Web ResourceName=Wikipedia; Note=Glutamine synthetase entry; URL="http://en.wikipedia.org/wiki/Glutamine_synthetase";
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