|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:argininosuccinate_synthetase
gptkb:ASS
|
|
gptkbp:associatedWith
|
gptkb:citrullinemia_type_I
|
|
gptkbp:biologicalProcess
|
gptkb:urea_cycle
argininosuccinate synthase activity
|
|
gptkbp:encodes
|
gptkb:argininosuccinate_synthase
|
|
gptkbp:Entrez_Gene_ID
|
445
ENSG00000130707
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
other tissues
|
|
gptkbp:fullName
|
gptkb:argininosuccinate_synthase_1
|
|
gptkbp:function
|
catalyzes the synthesis of argininosuccinate from citrulline and aspartate
|
|
gptkbp:geneType
|
protein coding
|
|
gptkbp:HGNC_ID
|
gptkb:ASS1
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ASS1 gene (in humans)
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9q34.11
|
|
gptkbp:mutationAssociatedWith
|
hyperammonemia
|
|
gptkbp:OMIM
|
603470
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:pathway
|
amino acid metabolism
arginine biosynthesis
|
|
gptkbp:product
|
gptkb:argininosuccinate_synthase_1
|
|
gptkbp:RefSeq
|
NM_000050
|
|
gptkbp:UniProtID
|
P00966
|
|
gptkbp:bfsParent
|
gptkb:argininosuccinate_synthetase
|
|
gptkbp:bfsLayer
|
6
|