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

Also Known as CDG1Z; DEE50; GATD4; EIEE50

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 790

About CAD

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,217,369-27,243,943 (from NCBI)

This gene has 11 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.3), ovary (RPKM 6.7) and 25 other tissues.

Summary

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 Enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

CAD Products (2)

mRNA	Protein	Name
NM_001306079.2	NP_001293008.1	CAD protein isoform 2
NM_004341.5	NP_004332.2	CAD protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables dihydroorotase activity	IDA IDA: Inferred from direct assay	24332717	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	15326225	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	24332717	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	24332717	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in 'de novo' UMP biosynthetic process	IDA IDA: Inferred from direct assay	25678555	GOA
involved in 'de novo' pyrimidine nucleobase biosynthetic process	IDA IDA: Inferred from direct assay	24332717	GOA
involved in UDP biosynthetic process	IDA IDA: Inferred from direct assay	25678555	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytosol	IDA IDA: Inferred from direct assay	15890648	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	9525610	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15890648	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAD Protein Structure

CPSase_sm_chain

GATase

Biotin_carb_N

CPSase_L_D2

CPSase_L_D3

Biotin_carb_N

CPSase_L_D2

MGS

OTCace_N

OTCace

0
400
800
1200
1600
2000
2225 a.a.

Protein Preferred Names	Protein Names
CAD protein	CAD trifunctional protein

CAD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	CAD	P27708	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	CAD	P27708	MAP3K14	Homo sapiens	Q99558	TAP	14743216

Cross: Cross-species interaction Intra: Intraspecies interaction

CAD Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P82778	CAD Antibody (YA2523)	WB, ICC/IF, IP, FC	Human

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 50	DEE50 Epileptic Encephalopathy, Early Infantile, 50 Eiee50 Developmental And Epileptic Encephalopathy, 50 Congenital Disorder Of Glycosylation, Type Iz, Formerly Cdg1z, Formerly Carbohydrate Deficient Glycoprotein Syndrome Type Iz Cdg Syndrome Type Iz Cdg-Iz Congenital Disorder Of Glycosylation Type 1z Early Infantile Epileptic Encephalopathy 50 Cdg1z Congenital Disorder Of Glycosylation 1z Encephalopathy, Epileptic, Early Infantile,, Type 50
Cad-Cdg	Cdg Syndrome Type Iz Cdg-Iz Cdg1z Carbohydrate Deficient Glycoprotein Syndrome Type Iz Congenital Disorder Of Glycosylation Type 1z
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-109160	Rimtuzalcap	Activator	99.27%	Phase 2

Pre-clinical Phase

Bioactive Molecules (19)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-139580	Plazinemdor	Agonist	96.61%	Unkown
HY-128912	Arborinine	Inhibitor	99.87%	Unkown
HY-RS16239	Acod1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-123494	BRD0418	Modulator	99.22%	Unkown
HY-124609	CAD031		99.39%	Unkown
HY-137959	Telmisartan acyl-β-D-glucuronide	Substrate	94.68%	Unkown
HY-N1753	3-(4-Hydroxyphenyl)-1-propanol		98.70%	Unkown
HY-164466	CAD204520	Inhibitor	99.22%	Unkown
HY-164466A	CAD204520 dihydrochloride	Inhibitor	99.26%	Unkown
HY-RS01818	CAD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-103406	PNU-177864		/	Unkown
HY-103406A	PNU-177864 hydrochloride		/	Unkown
HY-179354	AP21998	Ligand	/	Unkown
HY-RS00172	ACOD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03709	DFFB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-128446	CAY10781	Inhibitor	98.04%	Unkown
HY-N18868	1-Palmitoyl-2-capryloyl-sn-glycero-3-phosphocholine		/	Unkown
HY-RS17214	Cad Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23666	Cad Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-P99301	Lokivetmab	Inhibitor	≥99.0%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CAD	VGNC	VGNC:59209
Mus musculus	CAD	MGD	MGI:1916969
Rattus norvegicus	CAD	RGD	RGD:1588606
Macaca mulatta	CAD	VGNC	VGNC:106158
Canis familiaris	CAD	VGNC	VGNC:106593
Felis catus	CAD	VGNC	VGNC:80042
Others	CAD	NCBI