CAD (protein)

CAD
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4BY3, 4C6B, 4C6C, 4C6D, 4C6E, 4C6F, 4C6I, 4C6J, 4C6K, 4C6L, 4C6M, 4C6N, 4C6O, 4C6P, 4C6Q, 5G1P, 5G1O, 5G1N
Identifiers
Aliases	CAD, CDG1Z, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
External IDs	MGI: 1916969 HomoloGene: 1412 GeneCards: CAD
Gene ontology Molecular function • transferase activity • protein kinase activity • nucleotide binding • carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity • amino acid binding • aspartate binding • zinc ion binding • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides • metal ion binding • dihydroorotase activity • carbamoyl-phosphate synthase (ammonia) activity • ligase activity • catalytic activity • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds • carboxyl- or carbamoyltransferase activity • identical protein binding • enzyme binding • hydrolase activity • ATP binding • aspartate carbamoyltransferase activity Cellular component • cytoplasm • cell projection • membrane • nuclear matrix • nucleoplasm • protein complex • terminal bouton • neuronal cell body • extracellular exosome • nucleus • cytosol Biological process • UTP biosynthetic process • arginine biosynthetic process • response to testosterone • urea cycle • female pregnancy • cellular amino acid metabolic process • pyrimidine nucleoside biosynthetic process • cellular response to epidermal growth factor stimulus • heart development • cellular response to drug • glutamine metabolic process • nitrogen compound metabolic process • 'de novo' pyrimidine nucleobase biosynthetic process • animal organ regeneration • pyrimidine nucleotide biosynthetic process • response to cortisol • response to amine • drug metabolic process • protein autophosphorylation • liver development • response to caffeine • metabolic process • lactation • peptidyl-threonine phosphorylation • 'de novo' UMP biosynthetic process • response to starvation • response to insulin • citrulline biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	790	69719
Ensembl	ENSG00000084774	ENSMUSG00000013629
UniProt	P27708	B2RQC6
RefSeq (mRNA)	NM_001306079 NM_004341	NM_001289522 NM_001289523 NM_023525
RefSeq (protein)	NP_001293008.1 NP_004332.2	NP_001276451.1 NP_076014.1
Location (UCSC)	Chr 2: 27.22 – 27.24 Mb	Chr 5: 31.05 – 31.08 Mb
PubMed search	[1]	[2]
Wikidata

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carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Identifiers
Symbol	CAD
Entrez	790
HUGO	1424
OMIM	114010
RefSeq	NM_004341
UniProt	P27708
Other data
EC number	2.1.3.2
Locus	Chr. 2 p21

CAD protein (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is a trifunctional multi-domain enzyme involved in the first three steps of pyrimidine biosynthesis. De-novo synthesis starts with cytosolic carbamoylphosphate synthetase II which uses glutamine, carbon dioxide and ATP. This enzyme is inhibited by uridine triphosphate (feedback inhibition).

In 2015, the first observed pathological mutations of CAD were found in a four-year-old boy.^[3]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Ng, B. G.; Wolfe, L. A.; Ichikawa, M.; Markello, T.; He, M.; Tifft, C. J.; Gahl, W. A.; Freeze, H. H. (12 February 2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors". Human Molecular Genetics. 24 (11): 3050–3057. doi:10.1093/hmg/ddv057.

External links

• CAD trifunctional enzyme at the US National Library of Medicine Medical Subject Headings (MeSH)