Gene

cad

ID
ZDB-GENE-021030-4
Name
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Symbol
cad Nomenclature History
Previous Names
  • cb456 (1)
  • si:dkey-221h15.3
  • wu:fc30c12
  • wu:fc33d01
  • wu:fc67g02 (1)
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to enable aspartate carbamoyltransferase activity and dihydroorotase activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Acts upstream of or within several processes, including 'de novo' pyrimidine nucleobase biosynthetic process; cranial nerve morphogenesis; and regulation of signal transduction. Predicted to be located in nucleus. Predicted to be active in cytosol. Is expressed in several structures, including digestive system; immature eye; nervous system; neural tube; and pectoral fin. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 50. Orthologous to human CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
14 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
a52Allele with one point mutationUnknownMissensenot specified
hi2694TgTransgenic insertionExon 1UnknownDNA
hu10125Allele with one point mutationUnknownMissenseENU
la013884TgTransgenic insertionUnknownUnknownDNA
la028268TgTransgenic insertionUnknownUnknownDNA
sa9368Allele with one point mutationUnknownPremature StopENU
sa11882Allele with one point mutationUnknownSplice SiteENU
sa23778Allele with one point mutationUnknownPremature StopENU
sa37121Allele with one point mutationUnknownSplice SiteENU
sa37122Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-cadN/AWiller et al., 2005
MO2-cadN/AWiller et al., 2005
MO3-cadN/A (2)
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Human Disease
Associated With cad Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 50 Alliance Developmental and epileptic encephalopathy 50 616457
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Associated With cad Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR002195 Dihydroorotase, conserved site
Domain IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domain
Domain IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
Domain IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
Domain IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
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Domain Details Per Protein
Protein Additional Resources Length Amidohydrolase-related Aspartate carbamoyltransferase Aspartate/ornithine carbamoyltransferase Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding Aspartate/ornithine carbamoyltransferase superfamily ATP-grasp fold ATP-grasp fold, subdomain 1 Carbamoyl-phosphate synthase, large subunit Carbamoyl-phosphate synthase large subunit, CPSase domain Carbamoyl-phosphate synthase, small subunit Carbamoyl-phosphate synthase small subunit, GATase1 domain Carbamoyl-phosphate synthase small subunit, N-terminal domain Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain Carbamoyl-phosphate synthetase, large subunit oligomerisation domain Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily Class I glutamine amidotransferase-like Dihydroorotase, conserved site Glutamine amidotransferase Metal-dependent hydrolase Metal-dependent hydrolase, composite domain superfamily Methylglyoxal synthase-like domain Methylglyoxal synthase-like domain superfamily Pre-ATP-grasp domain superfamily
UniProtKB:A0A8M3AL15 InterPro 2256
UniProtKB:A0A8M3B4B1 InterPro 2243
UniProtKB:U3JAV8 InterPro 2230
UniProtKB:A0A8M2B804 InterPro 2243
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 20
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cad-201 (1) Ensembl 1,454 nt
mRNA cad-203 (1) Ensembl 7,486 nt
ncRNA cad-004 (1) Ensembl 525 nt
ncRNA cad-005 (1) Ensembl 791 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-221H15ZFIN Curated Data
ContainsSNPrs3729043
    ZFIN Curated Data
    EncodesESTcb456Thisse et al., 2001
    EncodesESTfc30c12Woods et al., 2000
    EncodesESTfc67g02
    Has ArtifactcDNAMGC:63627
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanCAD2
    Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    MouseCad5
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    Citations
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