|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
GS
glutamate-ammonia ligase
|
|
gptkbp:associatedWith
|
gptkb:encephalopathy
epilepsy
microcephaly
congenital glutamine deficiency
|
|
gptkbp:biologicalProcess
|
nitrogen metabolism
amino acid biosynthesis
ligase activity
|
|
gptkbp:discoveredBy
|
Hershfield et al.
|
|
gptkbp:discoveredIn
|
1982
|
|
gptkbp:encodes
|
gptkb:glutamine_synthetase
|
|
gptkbp:Entrez_Gene_ID
|
2752
ENSG00000135821
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:function
|
catalyzes the synthesis of glutamine from glutamate and ammonia
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOID
|
gptkb:GO:0004351
|
|
gptkbp:HGNC_ID
|
4331
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GLUL
|
|
gptkbp:length
|
11 exons
373 amino acids
|
|
gptkbp:locatedOnChromosome
|
1q25
|
|
gptkbp:molecularWeight
|
42 kDa
|
|
gptkbp:OMIM
|
138290
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Glul
|
|
gptkbp:pathway
|
gptkb:urea_cycle
glutamine biosynthesis
|
|
gptkbp:PDB
|
2QC8
|
|
gptkbp:product
|
gptkb:glutamine_synthetase
|
|
gptkbp:regulates
|
upregulated by glucocorticoids
downregulated by ammonia
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
P15104
|
|
gptkbp:bfsParent
|
gptkb:Glutamine_synthetase
|
|
gptkbp:bfsLayer
|
7
|