Gene table of ASS1 : argininosuccinate synthase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ASS1	OMIM link	Number of associated genes	genes
215700	CITRULLINEMIA, CLASSIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ASS1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Alanine, aspartate and glutamate metabolism	hsa00250	7.64
Metabolic pathways	hsa01100	2.49
Arginine and proline metabolism	hsa00330	6.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Urea cycle	R-HSA-70635	9.81
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
	GO:0004055	9.74
toxic substance binding	GO:0015643	7.25
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
nucleotide binding	GO:0000166	1.96
amino acid binding	GO:0016597	5.71
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
anion binding	GO:0043168	4.17
ion binding	GO:0043167	1.36
identical protein binding	GO:0042802	2.63
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
poly(A) RNA binding	GO:0044822	2.69
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
ligase activity	GO:0016874	3.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
catalytic activity	GO:0003824	1.05
carboxylic acid binding	GO:0031406	4.64
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19