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

Homo sapiens

Also known as CDG1Z; DEE50; GATD4; EIEE50

Gene ID: 790 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109160	Rimtuzalcap	Activator	99.41%	Yes
HY-139580	Plazinemdor	Agonist	98.68%	Unkown
HY-124609	CAD031	Inhibitor	99.39%	Unkown
HY-44809A	Izilendustat hydrochloride	Inhibitor	/	Unkown
HY-103406	PNU-177864		/	Unkown
HY-103406A	PNU-177864 hydrochloride		/	Unkown
HY-128912	Arborinine	Inhibitor	/	Unkown
HY-RS01818	CAD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-123494	BRD0418		/	Unkown
HY-164466	CAD204520	Inhibitor	/	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
Macaca fascicularis	CAD	NCBI	NCBI:102128048
Susscrofa domestica	CAD	NCBI
Others	CAD	NCBI

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