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GLNA_HUMAN
Developmental stage
Expressed during early fetal stages.
Function
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).
Involvement in disease
Congenital systemic glutamine deficiency
CSGD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated; undergoes autopalmitoylation.
Ubiquitinated by ZNRF1.
Sequence similarities
Belongs to the glutamine synthetase family.
Tissue specificity
Expressed in endothelial cells.
Cellular localization
- Cytoplasm
- Cytosol
- Microsome
- Mitochondrion
- Cell membrane
- Lipid-anchor
- Mainly localizes in the cytosol, with a fraction associated with the cell membrane.
Alternative names
- Glutamine synthetase
- GS
- Glutamate--ammonia ligase
- Palmitoyltransferase GLUL
- GLNS
- GLUL
Database links
Target type
Proteins
Primary research area
Neuroscience
Molecular weight
42064Da