Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cadprovided by MGI
Official Full Name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotaseprovided by MGI
Primary source: MGI:MGI:1916969
See related: Ensembl:ENSMUSG00000013629 AllianceGenome:MGI:1916969
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cpad; 2410008J01Rik
Summary: Enables aspartate carbamoyltransferase activity; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; and dihydroorotase activity. Involved in 'de novo' UMP biosynthetic process. Predicted to be located in neuronal cell body; nuclear matrix; and terminal bouton. Predicted to be part of protein-containing complex. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; brain; branchial arch; genitourinary system; and sensory organ. 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). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in genital fat pad adult (RPKM 79.4), ovary adult (RPKM 22.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 16.95 cM

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (31211964..31235823)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (31054620..31078479)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CAD functions as a necessary modulator of the hypertrophic response by regulating the mitogen-activated protein kinase-extracellular signal-regulated kinase 1/2 signaling pathway in the heart.
Title: Novel role for caspase-activated DNase in the regulation of pathological cardiac hypertrophy.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Spontaneous (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CAD (e-PCR)
- UniSTS:505098

MARC4015-4016 (e-PCR)
- UniSTS:207115

MARC_4015-4016:996679280:1 (e-PCR)
- UniSTS:207115

PMC139788P1 (e-PCR)
- UniSTS:270895

Cad (e-PCR), detects polymorphism
- UniSTS:546687

Cad (e-PCR), detects polymorphism
- UniSTS:547739

RH136118 (e-PCR)
- UniSTS:210113

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables UTP binding	ISO Inferred from Sequence Orthology more info
enables amino acid binding	IEA Inferred from Electronic Annotation more info
enables aspartate carbamoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aspartate carbamoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables aspartate carbamoyltransferase activity	ISO Inferred from Sequence Orthology more info
enables carbamoyl-phosphate synthase (ammonia) activity	IEA Inferred from Electronic Annotation more info
enables carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IDA Inferred from Direct Assay more info	PubMed
enables carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	ISO Inferred from Sequence Orthology more info
enables dihydroorotase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dihydroorotase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables dihydroorotase activity	ISO Inferred from Sequence Orthology more info
enables dihydroorotase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables glutaminase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 'de novo' UMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' UMP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 'de novo' UMP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within 'de novo' pyrimidine nucleobase biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in UDP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in UTP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in UTP biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in citrulline biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in citrulline biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in glutamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glutamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within peptidyl-threonine phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to caffeine	IEA Inferred from Electronic Annotation more info
involved_in response to cortisol	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
involved_in response to starvation	IEA Inferred from Electronic Annotation more info
involved_in response to starvation	ISO Inferred from Sequence Orthology more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in terminal bouton	IEA Inferred from Electronic Annotation more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: multifunctional protein CAD

Names: carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase

NP_001276451.1

EC 2.1.3.2

EC 3.5.1.2

EC 3.5.2.3

EC 6.3.4.16

EC 6.3.5.5

NP_001276452.1

EC 2.1.3.2

EC 3.5.1.2

EC 3.5.2.3

EC 6.3.4.16

EC 6.3.5.5

NP_001390328.1

EC 2.1.3.2

EC 3.5.1.2

EC 3.5.2.3

EC 6.3.4.16

EC 6.3.5.5

NP_001390329.1

EC 2.1.3.2

EC 3.5.1.2

EC 3.5.2.3

EC 6.3.4.16

EC 6.3.5.5

NP_076014.1

EC 2.1.3.2

EC 3.5.1.2

EC 3.5.2.3

EC 6.3.4.16

EC 6.3.5.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001289522.2 → NP_001276451.1 multifunctional protein CAD isoform 2

See identical proteins and their annotated locations for NP_001276451.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC109608

Consensus CDS

CCDS80246.1

UniProtKB/TrEMBL

E9QAI5

Related

ENSMUSP00000144684.2, ENSMUST00000201182.4

Conserved Domains (12) summary

cd01744
Location:178 → 354

GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II

PRK09060
Location:1429 → 1810

PRK09060; dihydroorotase; Validated

PRK12564
Location:1 → 355

PRK12564; carbamoyl phosphate synthase small subunit; Reviewed

cd01316
Location:1460 → 1806

CAD_DHOase; The eukaryotic CAD protein is a trifunctional enzyme of carbamoylphosphate synthetase-aspartate transcarbamoylase-dihydroorotase, which catalyzes the first three steps of de novo pyrimidine nucleotide biosynthesis. Dihydroorotase (DHOase) catalyzes the ...

cd01423
Location:1313 → 1438

MGS_CPS_I_III; Methylglyoxal synthase-like domain found in pyr1 and URA1-like carbamoyl phosphate synthetases (CPS), including ammonia-dependent CPS Type I, and glutamine-dependent CPS Type III. These are multidomain proteins, in which MGS is the C-terminal domain.

TIGR01369
Location:391 → 1440

CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit

pfam00185
Location:2001 → 2150

OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain

pfam00988
Location:2 → 138

CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain

pfam02729
Location:1955 → 1994

OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

pfam02786
Location:514 → 716

CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

pfam02787
Location:801 → 921

CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain

cl17255
Location:1048 → 1248

ATP-grasp_4; ATP-grasp domain
NM_001289523.2 → NP_001276452.1 multifunctional protein CAD isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC109608

Consensus CDS

CCDS80245.1

UniProtKB/TrEMBL

E9QAI5, G3UWN2

Related

ENSMUSP00000144009.2, ENSMUST00000202795.4

Conserved Domains (13) summary

cd01744
Location:178 → 354

GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II

PLN02527
Location:1924 → 2162

PLN02527; aspartate carbamoyltransferase

PRK09060
Location:1429 → 1810

PRK09060; dihydroorotase; Validated

PRK12564
Location:1 → 355

PRK12564; carbamoyl phosphate synthase small subunit; Reviewed

cd01316
Location:1460 → 1806

CAD_DHOase; The eukaryotic CAD protein is a trifunctional enzyme of carbamoylphosphate synthetase-aspartate transcarbamoylase-dihydroorotase, which catalyzes the first three steps of de novo pyrimidine nucleotide biosynthesis. Dihydroorotase (DHOase) catalyzes the ...

cd01423
Location:1313 → 1438

MGS_CPS_I_III; Methylglyoxal synthase-like domain found in pyr1 and URA1-like carbamoyl phosphate synthetases (CPS), including ammonia-dependent CPS Type I, and glutamine-dependent CPS Type III. These are multidomain proteins, in which MGS is the C-terminal domain.

TIGR01369
Location:391 → 1440

CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit

pfam00185
Location:2011 → 2160

OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain

pfam00988
Location:2 → 138

CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain

pfam02729
Location:1925 → 2004

OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

pfam02786
Location:514 → 716

CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

pfam02787
Location:801 → 921

CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain

cl17255
Location:1048 → 1248

ATP-grasp_4; ATP-grasp domain
NM_001403399.1 → NP_001390328.1 multifunctional protein CAD isoform 4

Status: VALIDATED

Source sequence(s)

AC109608

UniProtKB/TrEMBL

E9QAI5
NM_001403400.1 → NP_001390329.1 multifunctional protein CAD isoform 5

Status: VALIDATED

Source sequence(s)

AC109608

UniProtKB/TrEMBL

E9QAT6, Q7TN13

Related

ENSMUSP00000144127.2, ENSMUST00000201838.4
NM_023525.3 → NP_076014.1 multifunctional protein CAD isoform 1

See identical proteins and their annotated locations for NP_076014.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC109608

Consensus CDS

CCDS19171.1

UniProtKB/Swiss-Prot

B2RQC6, B7ZN27

UniProtKB/TrEMBL

E9QAI5

Related

ENSMUSP00000013773.6, ENSMUST00000013773.12

Conserved Domains (13) summary

cd01744
Location:178 → 354

GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II

PRK09060
Location:1429 → 1810

PRK09060; dihydroorotase; Validated

PRK00856
Location:1920 → 2224

pyrB; aspartate carbamoyltransferase catalytic subunit; Provisional

PRK12564
Location:1 → 355

PRK12564; carbamoyl phosphate synthase small subunit; Reviewed

cd01316
Location:1460 → 1806

CAD_DHOase; The eukaryotic CAD protein is a trifunctional enzyme of carbamoylphosphate synthetase-aspartate transcarbamoylase-dihydroorotase, which catalyzes the first three steps of de novo pyrimidine nucleotide biosynthesis. Dihydroorotase (DHOase) catalyzes the ...

cd01423
Location:1313 → 1438

MGS_CPS_I_III; Methylglyoxal synthase-like domain found in pyr1 and URA1-like carbamoyl phosphate synthetases (CPS), including ammonia-dependent CPS Type I, and glutamine-dependent CPS Type III. These are multidomain proteins, in which MGS is the C-terminal domain.

TIGR01369
Location:391 → 1440

CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit

pfam00185
Location:2072 → 2221

OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain

pfam00988
Location:2 → 138

CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain

pfam02729
Location:1925 → 2065

OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

pfam02786
Location:514 → 716

CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

pfam02787
Location:801 → 921

CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain

cl17255
Location:1048 → 1248

ATP-grasp_4; ATP-grasp domain