Glutamine Synthetase è un gene codificato dal simbolo GLUL. Comunemente indicato anche come: GS; Glutamate--ammonia ligase; Palmitoyltransferase GLUL; GLUL; GLNS. Glutamine Synthetase ha una massa di 42.06kDa, una lunghezza di amminoacidi di 373, ed è implicato in Congenital systemic glutamine deficiency.
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Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Specificità del tessuto
Expressed in endothelial cells.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the glutamine synthetase family.
Modifica post-translazionale
Palmitoylated; undergoes autopalmitoylation.
Posizione cellulare
Cytoplasm > Cytosol. Microsome. Mitochondrion. Cell membrane.
Mainly localizes in the cytosol, with a fraction associated with the cell membrane.
