|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:early_infantile_epileptic_encephalopathy
gptkb:congenital_disorders_of_glycosylation
|
|
gptkbp:biologicalProcess
|
catalytic activity
nucleotide biosynthetic process
|
|
gptkbp:cellularComponent
|
gptkb:cytoplasm
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for CAD mutations
|
|
gptkbp:discoveredBy
|
biochemical studies
|
|
gptkbp:encodes
|
gptkb:CAD_protein
|
|
gptkbp:encodesEnzyme
|
gptkb:aspartate_transcarbamylase
gptkb:carbamoyl-phosphate_synthetase_2
gptkb:dihydroorotase
|
|
gptkbp:Entrez_Gene_ID
|
790
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:function
|
pyrimidine biosynthesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
1392
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CAD gene
|
|
gptkbp:interactsWith
|
gptkb:ATP
gptkb:UMP
gptkb:UTP
gptkb:CTP
gptkb:aspartate
gptkb:GTP
gptkb:glutamine
gptkb:PRPP
gptkb:dihydroorotate
carbamoyl phosphate
orotate
|
|
gptkbp:involvedIn
|
de novo pyrimidine synthesis pathway
|
|
gptkbp:length
|
2225 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p23.3
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
|
|
gptkbp:mutationAssociatedWith
|
gptkb:anemia
seizures
developmental delay
|
|
gptkbp:OMIM
|
114010
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Cad
|
|
gptkbp:pathway
|
nucleotide metabolism
pyrimidine metabolism
|
|
gptkbp:product
|
multifunctional protein
|
|
gptkbp:regulates
|
phosphorylation
allosteric regulation
|
|
gptkbp:UniProtID
|
P27708
|
|
gptkbp:bfsParent
|
gptkb:CAD4
|
|
gptkbp:bfsLayer
|
7
|