Open main menu

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).

CAD
4c6c.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCAD, CDG1Z, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase, GATD4, EIEE50
External IDsMGI: 1916969 HomoloGene: 1412 GeneCards: CAD
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CAD
Genomic location for CAD
Band2p23.3Start27,217,369 bp[1]
End27,243,943 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306079
NM_004341

NM_001289522
NM_001289523
NM_023525

RefSeq (protein)

NP_001293008
NP_004332

NP_001276451
NP_001276452
NP_076014

Location (UCSC)Chr 2: 27.22 – 27.24 MbChr 5: 31.05 – 31.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Identifiers
SymbolCAD
Entrez790
HUGO1424
OMIM114010
RefSeqNM_004341
UniProtP27708
Other data
EC number2.1.3.2
LocusChr. 2 p21

In 2015, the first observed pathological mutations of CAD were found in a four-year-old boy.[5]

CAD protein has been observed in the mid-piece of mammalian spermatozoa, among the mitochondria.[6]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000084774 - Ensembl, May 2017
  2. ^ a b c 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.
  6. ^ Carrey EA, Dietz C, Glubb DM, Löffler M, Lucocq JM, Watson PF (June 2002). "Detection and location of the enzymes of de novo pyrimidine biosynthesis in mammalian spermatozoa". Reproduction. 123 (6): 757–68. doi:10.1530/rep.0.1230757. PMID 12052230.

External linksEdit