Gene table of CAD : carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CAD	OMIM link	Number of associated genes	genes
PS212065	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4

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Annotation of the gene CAD

Associated genes in ENSEMBL

ENSG00000084774

Associated proteins - SwissProt Accession ID

P27708

Associated PDB IDs

Cytogenetic Band

2p23.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Alanine, aspartate and glutamate metabolism	hsa00250	7.64
Metabolic pathways	hsa01100	2.49
Pyrimidine metabolism	hsa00240	6.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of nucleotides	R-HSA-15869	6.7
Pyrimidine metabolism	R-HSA-73848	8.4
Metabolism	R-HSA-1430728	2.34
Pyrimidine biosynthesis	R-HSA-500753	10.4

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	GO:0016812	7.79
aspartate binding	GO:0070335	9.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	GO:0016884	7.25
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
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
catalytic activity	GO:0003824	1.05
zinc ion binding	GO:0008270	2.66
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
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
hydrolase activity	GO:0016787	1.9
kinase activity	GO:0016301	2.93
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
protein kinase activity	GO:0004672	3.27
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
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	GO:0016810	4.76
carboxylic acid binding	GO:0031406	4.64
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
dihydroorotase activity	GO:0004151	9.05
aspartate carbamoyltransferase activity	GO:0004070	9.05
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18