|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
GDH1
GLUD
glutamate dehydrogenase (NAD(P)+) 1
|
|
gptkbp:associatedWith
|
gptkb:hyperinsulinism-hyperammonemia_syndrome
|
|
gptkbp:biologicalProcess
|
amino acid metabolism
oxidoreductase activity
glutamate catabolic process
|
|
gptkbp:cellularComponent
|
mitochondrion
|
|
gptkbp:EC_number
|
1.4.1.3
|
|
gptkbp:encodes
|
glutamate dehydrogenase 1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000135423
2746
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
pancreas
|
|
gptkbp:function
|
catalyzes oxidative deamination of glutamate to alpha-ketoglutarate
|
|
gptkbp:HGNC_ID
|
HGNC:4337
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GLUD1
|
|
gptkbp:length
|
558 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:10q23.3
|
|
gptkbp:mutationAssociatedWith
|
can cause congenital hyperinsulinism
|
|
gptkbp:OMIM
|
138130
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Glud1
|
|
gptkbp:product
|
GLUD1 protein
|
|
gptkbp:regulates
|
allosterically regulated by ADP and GTP
|
|
gptkbp:UniProtID
|
P00367
|
|
gptkbp:bfsParent
|
gptkb:10q23.3
|
|
gptkbp:bfsLayer
|
6
|