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 contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Involved in several processes, including 'de novo' pyrimidine nucleobase biosynthetic process; cranial nerve morphogenesis; and regulation of signal transduction. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 50. Is expressed in several structures, including digestive system; immature eye; nervous system; neural tube; and pectoral fin. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb456 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 11 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

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

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
Domain	IPR006131	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
Domain	IPR006132	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
Domain	IPR006680	Amidohydrolase-related
Domain	IPR011607	Methylglyoxal synthase-like domain
Domain	IPR011761	ATP-grasp fold
Domain	IPR017926	Glutamine amidotransferase
Domain	IPR035686	Carbamoyl-phosphate synthase small subunit, GATase1 domain
Family	IPR002082	Aspartate carbamoyltransferase
Family	IPR006130	Aspartate/ornithine carbamoyltransferase
Family	IPR006274	Carbamoyl-phosphate synthase, small subunit
Family	IPR006275	Carbamoyl-phosphate synthase, large subunit
Homologous_superfamily	IPR011059	Metal-dependent hydrolase, composite domain superfamily
Homologous_superfamily	IPR013815	ATP-grasp fold, subdomain 1
Homologous_superfamily	IPR016185	Pre-ATP-grasp domain superfamily
Homologous_superfamily	IPR029062	Class I glutamine amidotransferase-like
Homologous_superfamily	IPR032466	Metal-dependent hydrolase
Homologous_superfamily	IPR036480	Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily
Homologous_superfamily	IPR036897	Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily
Homologous_superfamily	IPR036901	Aspartate/ornithine carbamoyltransferase superfamily
Homologous_superfamily	IPR036914	Methylglyoxal synthase-like domain superfamily

Domain Details Per Protein

Protein	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cad-201 (1) Ensembl	Havana	1454 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cad-203 (1) Ensembl	Havana	7486 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	cad-004 (1) Ensembl	Havana	525 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	cad-005 (1) Ensembl	Havana	791 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations