Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.225
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
protein S-acyltransferase
6.3.1.2
Ligases;
Forming carbon-nitrogen bonds;
Acid—ammonia (or amine) ligases (amide synthases);
glutamine synthetase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2OJW | 2.05 | Crystal structure of human glutamine synthetase in complex with ADP and phosphate |
| 2QC8 | 2.6 | Crystal structure of human glutamine synthetase in complex with ADP and methionine sulfoximine phosphate |
| 7EVT | 2.95 | Crystal structure of the N-terminal degron-truncated human glutamine synthetase |
| 8DNU | 2.73 | Human Brain Glutamine Synthetase |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0019676 | ammonia assimilation cycle |
| Biological Process | GO:0001525 | angiogenesis |
| Biological Process | GO:0008283 | cell population proliferation |
| Biological Process | GO:0009267 | cellular response to starvation |
| Biological Process | GO:0006538 | glutamate catabolic process |
| Biological Process | GO:0006542 | glutamine biosynthetic process |
| Biological Process | GO:0050679 | positive regulation of epithelial cell proliferation |
| Biological Process | GO:0032024 | positive regulation of insulin secretion |
| Biological Process | GO:0051968 | positive regulation of synaptic transmission, glutamatergic |
| Biological Process | GO:0018345 | protein palmitoylation |
| Biological Process | GO:0010594 | regulation of endothelial cell migration |
| Biological Process | GO:1904749 | regulation of protein localization to nucleolus |
| Biological Process | GO:1903670 | regulation of sprouting angiogenesis |
| Biological Process | GO:0009749 | response to glucose |
| Biological Process | GO:0042254 | ribosome biogenesis |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0045503 | dynein light chain binding |
| Molecular Function | GO:0016595 | glutamate binding |
| Molecular Function | GO:0004356 | glutamate-ammonia ligase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0000287 | magnesium ion binding |
| Molecular Function | GO:0030145 | manganese ion binding |
| Molecular Function | GO:0019706 | protein-cysteine S-palmitoyltransferase activity |
| Cellular Component | GO:0043679 | axon terminus |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0097386 | glial cell projection |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0043209 | myelin sheath |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0043204 | perikaryon |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0032991 | protein-containing complex |
| Cellular Component | GO:0005791 | rough endoplasmic reticulum |
| InterPro
|
InterPro name |
|---|---|
| IPR008146 | Glutamine synthetase, catalytic domain |
| IPR008147 | Glutamine synthetase, N-terminal domain |
| IPR014746 | Glutamine synthetase/guanido kinase, catalytic domain |
| IPR027302 | Glutamine synthetase, N-terminal conserved site |
| IPR027303 | Glutamine synthetase, glycine-rich site |
| IPR036651 | Glutamine synthetase, N-terminal domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00120 | Glutamine synthetase, catalytic domain |
| PF03951 | Glutamine synthetase, beta-Grasp domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-210455 | Astrocytic Glutamate-Glutamine Uptake And Metabolism | Leaf | R-HSA-112316 | Neuronal System |
| R-HSA-8964539 | Glutamate and glutamine metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000269 | PubMed:30158707 |
| Cytoplasm, cytosol | ECO:0000269 | PubMed:30158707 |
| Microsome | ECO:0000250 | |
| Mitochondrion | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000233 | Thin vermilion border |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001298 | Encephalopathy |
| HP:0001371 | Flexion contracture |
| HP:0001662 | Bradycardia |
| HP:0001987 | Hyperammonemia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002104 | Apnea |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0002416 | Subependymal cysts |
| HP:0002643 | Neonatal respiratory distress |
| HP:0002983 | Micromelia |
| HP:0003196 | Short nose |
| HP:0003429 | CNS hypomyelination |
| HP:0003811 | Neonatal death |
| HP:0005280 | Depressed nasal bridge |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0010783 | Erythema |
| HP:0011344 | Severe global developmental delay |
| HP:0012385 | Camptodactyly |
| HP:0012444 | Brain atrophy |
| HP:0030674 | Antenatal onset |
| HP:0500147 | Hypoglutaminemia |
| HP:0500198 | Decreased CSF glutamine concentration |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | High | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Low | Approved |
| bronchus | ciliated cells (cell body) | Low | Approved |
| caudate | glial cells | High | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | High | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | High | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| duodenum | glandular cells | Low | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | ciliated cells (cell body) | Low | Approved |
| gallbladder | glandular cells | Low | Approved |
| hippocampus | glial cells | High | Approved |
| hippocampus | neuronal cells | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | macrophages | Low | Approved |
| nasopharynx | ciliated cells (cell body) | Low | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| placenta | trophoblastic cells | High | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| small intestine | glandular cells | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | High | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| congenital brain dysgenesis due to glutamine synthetase deficiency | MONDO:0012393 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:610015 | Orphanet:71278 |