argininosuccinate synthetase 1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:enzyme
gptkbp:alternativeName	gptkb:ASS gptkb:argininosuccinate_synthase
gptkbp:associatedWith	gptkb:citrullinemia_type_I
gptkbp:biologicalProcess	gptkb:urea_cycle arginine biosynthetic process argininosuccinate synthase activity
gptkbp:cofactor	gptkb:ATP
gptkbp:EC_number	6.3.4.5
gptkbp:encodedBy	ASS1 gene
gptkbp:expressedIn	gptkb:kidney liver other tissues
gptkbp:function	catalyzes the synthesis of argininosuccinate from citrulline and aspartate
gptkbp:gene	gptkb:ASS1
gptkbp:HGNC_ID	gptkb:HGNC:746
gptkbp:locatedOnChromosome	9q34.1
gptkbp:location	cytosol
gptkbp:mutationAssociatedWith	can cause citrullinemia type I
gptkbp:OMIM	603470
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:pathway	gptkb:urea_cycle
gptkbp:PDB	1A8Z
gptkbp:product	gptkb:AMP argininosuccinate pyrophosphate
gptkbp:RefSeq	NM_000050
gptkbp:substrate	gptkb:aspartate citrulline
gptkbp:UniProtID	P00966
gptkbp:bfsParent	gptkb:argininosuccinate_synthetase
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	argininosuccinate synthetase 1