Gene table of CPS1 : carbamoyl-phosphate synthase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CPS1	OMIM link	Number of associated genes	genes
615371	PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO	ClinVar, OMIM	link to OMIM	1	CPS1
237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CPS1

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Annotation of the gene CPS1

Associated genes in ENSEMBL

ENSG00000021826

Associated proteins - SwissProt Accession ID

P31327

Associated PDB IDs

Cytogenetic Band

2q34

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Arginine and proline metabolism	hsa00330	6.84
Carbon metabolism	hsa01200	6.03
Metabolic pathways	hsa01100	2.49
Alanine, aspartate and glutamate metabolism	hsa00250	7.64
Nitrogen metabolism	hsa00910	8.6
Biosynthesis of amino acids	hsa01230	6.58

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
endopeptidase activity	GO:0004175	3.63
purine ribonucleoside triphosphate binding	GO:0035639	2.22
catalytic activity	GO:0003824	1.05
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
glutamate binding	GO:0016595	7.54
nucleotide binding	GO:0000166	1.96
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
cation binding	GO:0043169	1.4
phospholipid binding	GO:0005543	3.91
ion binding	GO:0043167	1.36
carboxyl- or carbamoyltransferase activity	GO:0016743	8.64
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
carbamoyl-phosphate synthase (ammonia) activity	GO:0004087	9.05
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	GO:0004088	9.05
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
calcium ion binding	GO:0005509	3.17
hydrolase activity	GO:0016787	1.9
lipid binding	GO:0008289	3.26
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
ligase activity	GO:0016874	3.72
modified amino acid binding	GO:0072341	5.56
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	GO:0016810	4.76
carboxylic acid binding	GO:0031406	4.64
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	GO:0016812	7.79
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
dihydroorotase activity	GO:0004151	9.05
peptidase activity	GO:0008233	3.23
aspartate carbamoyltransferase activity	GO:0004070	9.05
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	GO:0016884	7.25