Glutamine Synthetase ist ein Gen, das durch das Symbol GLUL kodiert wird. Im Allgemeinen auch bezeichnet als: GS; Glutamate--ammonia ligase; Palmitoyltransferase GLUL; GLUL; GLNS. Glutamine Synthetase hat eine Masse von 42.06kDa, eine Aminosäurelänge von 373, und ist an Congenital systemic glutamine deficiency beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:30158707, PubMed:16267323). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts (PubMed:18662667). Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane localization and activation of the GTPase RHOJ, possibly by promoting RHOJ palmitoylation (PubMed:30158707). May act as a palmitoyltransferase for RHOJ: able to autopalmitoylate and then transfer the palmitoyl group to RHOJ (PubMed:30158707). Plays a role in ribosomal 40S subunit biogenesis (PubMed:26711351).
Entrez Zusammenfassung
The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants.
Gewebespezifität
Expressed in endothelial cells.
Rolle bei Krankheiten
Congenital systemic glutamine deficiency: 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.
Sequenzähnlichkeiten
Belongs to the glutamine synthetase family.
Posttranslationale Modifikation
Palmitoylated; undergoes autopalmitoylation.
Zellort
Cytoplasm > Cytosol. Microsome. Mitochondrion. Cell membrane.
Mainly localizes in the cytosol, with a fraction associated with the cell membrane.
