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

Gene ID: 69719, updated on 28-Oct-2024

Summary

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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, Oct 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

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See Cad in Genome Data Viewer
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_000071.7Genomic Context describing neighboring genes Neighboring gene transcription factor 23 Neighboring gene STARR-seq mESC enhancer starr_12765 Neighboring gene solute carrier family 5 (sodium-dependent vitamin transporter), member 6 Neighboring gene STARR-positive B cell enhancer ABC_E2741 Neighboring gene all-trans retinoic acid induced differentiation factor Neighboring gene predicted gene, 38601 Neighboring gene solute carrier family 30 (zinc transporter), member 3 Neighboring gene predicted gene 9924

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Copurification of carbamoyl phosphate synthetase and aspartate transcarbamoylase from mouse spleen. Hoogenraad NJ, et al. Biochem Biophys Res Commun, 1971 Aug 20. PMID 5125237
  2. c-Myc target gene specificity is determined by a post-DNAbinding mechanism. Boyd KE, et al. Proc Natl Acad Sci U S A, 1998 Nov 10. PMID 9811896, Free PMC Article
  3. Afatinib Exerts Immunomodulatory Effects by Targeting the Pyrimidine Biosynthesis Enzyme CAD. Tu HF, et al. Cancer Res, 2021 Jun 15. PMID 33771897
  4. Novel role for caspase-activated DNase in the regulation of pathological cardiac hypertrophy. Gao L, et al. Hypertension, 2015 Apr. PMID 25646292
  5. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Ng BG, et al. Hum Mol Genet, 2015 Jun 1. PMID 25678555, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
NP_001276452.1
NP_001390328.1
NP_001390329.1
NP_076014.1

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)

  1. 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

  2. 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

  3. NM_001403399.1 → NP_001390328.1  multifunctional protein CAD isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC109608

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

    Status: VALIDATED

    Source sequence(s)
    AC109608
    UniProtKB/TrEMBL
    E9QAT6
    Related
    ENSMUSP00000144127.2, ENSMUST00000201838.4

  5. 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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    31211964..31235823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004942556.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B2RQC6.1 GenPept UniProtKB/Swiss-Prot:B2RQC6

Gene LinkOut

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