CAD (protein)

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
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, GATD4, EIEE50
External IDs	MGI: 1916969 HomoloGene: 1412 GeneCards: CAD
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	27,243,943 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	31,078,479 bp[2]
Gene ontology
Molecular function	• transferase activity; • protein kinase activity; • nucleotide binding; • 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; • ligase activity; • catalytic activity; • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds; • carboxyl- or carbamoyltransferase activity; • enzyme binding; • hydrolase activity; • ATP binding; • aspartate carbamoyltransferase activity; • carbamoyl-phosphate synthase (ammonia) activity; • carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; • identical protein binding;
Cellular component	• cytoplasm; • membrane; • nuclear matrix; • nucleoplasm; • extracellular exosome; • cell nucleus; • cytosol; • cell projection; • neuronal cell body; • terminal bouton;
Biological process	• cellular amino acid metabolic process; • pyrimidine nucleoside biosynthetic process; • glutamine metabolic process; • nitrogen compound metabolic process; • 'de novo' pyrimidine nucleobase biosynthetic process; • pyrimidine nucleotide biosynthetic process; • protein autophosphorylation; • metabolism; • peptidyl-threonine phosphorylation; • 'de novo' UMP biosynthetic process; • urea cycle; • arginine biosynthetic process; • drug metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	790
	69719
	ENSG00000084774
	ENSMUSG00000013629
	P27708
	B2RQC6
	NM_001306079; NM_004341
	NM_001289522; NM_001289523; NM_023525
	NP_001293008; NP_004332
	NP_001276451; NP_001276452; NP_076014
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000084774 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000013629 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH (June 2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors". Human Molecular Genetics. 24 (11): 3050–7. doi:10.1093/hmg/ddv057. PMC 4424951. PMID 25678555.

External links

CAD+trifunctional+enzyme at the US National Library of Medicine Medical Subject Headings (MeSH)
Human CAD genome location and CAD gene details page in the UCSC Genome Browser.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000084774 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000013629 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[5] Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH (June 2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors". Human Molecular Genetics. 24 (11): 3050–7. doi:10.1093/hmg/ddv057. PMC 4424951. PMID 25678555.

Enzymes: multienzyme complexes
Photosynthesis	Photosynthetic reaction center complex proteins Photosystem I II
Dehydrogenase	Pyruvate dehydrogenase complex E1 E2 E3 Oxoglutarate dehydrogenase OGDH DLST DLD Branched-chain alpha-keto acid dehydrogenase complex BCKDHA BCKDHB DBT DLD
Other	CAD Carbamoyl phosphate synthase II Aspartate carbamoyltransferase Dihydroorotase Cholesterol side-chain cleavage enzyme Cytochrome b6f complex Electron transport chain Fatty acid synthetase complex Glycine decarboxylase complex Mitochondrial trifunctional protein HADHA HADHB Phosphoenolpyruvate sugar phosphotransferase system Polyketide synthase Sucrase-isomaltase complex Tryptophan synthase

Hydrolases: carbon-nitrogen non-peptide (EC 3.5)
3.5.1: Linear amides / Amidohydrolases	Asparaginase Glutaminase Urease Biotinidase Aspartoacylase Ceramidase Aspartylglucosaminidase Fatty acid amide hydrolase Histone deacetylase Sirtuin
3.5.2: Cyclic amides/ Amidohydrolases	Barbiturase Beta-lactamase
3.5.3: Linear amidines/ Ureohydrolases	Arginase Agmatinase Protein-arginine deiminase
3.5.4: Cyclic amidines/ Aminohydrolases	Guanine deaminase Adenosine deaminase AMP deaminase Inosine monophosphate synthase DCMP deaminase GTP cyclohydrolase I Cytidine deaminase AICDA Activation-induced cytidine deaminase
3.5.5: Nitriles/ Aminohydrolases	Nitrilase
3.5.99: Other	Riboflavinase Thiaminase II

Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list)