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 References 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 References 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 References 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

CPSase_sm_chain: Carbamoyl-phosphate synthase small chain, CPSase domain (2 - 138)

GATase

GATase: Glutamine amidotransferase class-I (180 - 355)

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (394 - 509)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (514 - 717)

CPSase_L_D3

CPSase_L_D3: Carbamoyl-phosphate synthetase large chain, oligomerisation domain (801 - 921)

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (934 - 1042)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (1050 - 1247)

MGS

MGS: MGS-like domain (1327 - 1427)

(1464 - 1743)

OTCace_N

OTCace_N: Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain (1924 - 2066)

OTCace

OTCace: Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain (2071 - 2220)

  • 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 References
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

Cat. No. Product Name Application 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)
Cat. No. Product Name Effect
Purity Phase
HY-109160 Rimtuzalcap Activator 99.27% Phase 2

Pre-clinical Phase

Bioactive Molecules (19)
Cat. No. Product Name
Effect
Purity
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)
Cat. No. Product Name
Effect
Purity
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