Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:citrullinemia_type_I
|
| gptkbp:biologicalProcess |
gptkb:urea_cycle
amino acid biosynthetic process arginine biosynthetic process argininosuccinate synthase activity |
| gptkbp:cellularComponent |
gptkb:cytoplasm
|
| gptkbp:encodes |
gptkb:argininosuccinate_synthase
|
| gptkbp:Entrez_Gene_ID |
445
ENSG00000042980 |
| gptkbp:expressedIn |
gptkb:kidney
liver |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:fullName |
gptkb:argininosuccinate_synthase_1
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:751
|
| https://www.w3.org/2000/01/rdf-schema#label |
ASS1
|
| gptkbp:involvedIn |
gptkb:urea_cycle
|
| gptkbp:length |
412
|
| gptkbp:locatedOnChromosome |
9q34.1
|
| gptkbp:molecularWeight |
46 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:citrullinemia_type_I
|
| gptkbp:numberOfExons |
16
|
| gptkbp:OMIM |
603470
|
| gptkbp:orthologInMouse |
Ass1
|
| gptkbp:PDB |
1A1S
1KFU 2NZ2 |
| gptkbp:UniProtID |
P00966
|
| gptkbp:bfsParent |
gptkb:urea_cycle
|
| gptkbp:bfsLayer |
5
|