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

Gene ID: 69719, updated on 27-Feb-2024

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 nuclear matrix and nucleoplasm. 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, Apr 2022]
Expression
Broad expression in genital fat pad adult (RPKM 79.4), ovary adult (RPKM 22.9) and 21 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 (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 carboxyl- or carbamoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
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 enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
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 UDP biosynthetic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in UTP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in UTP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in citrulline biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in citrulline biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in glutamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glutamine metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in nitrogen compound metabolic process 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
 
acts_upstream_of_or_within pyrimidine nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to insulin ISO
Inferred from Sequence Orthology
more info
 
involved_in response to starvation ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
located_in terminal bouton ISO
Inferred from Sequence Orthology
more info
 

General protein information

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_001289522.2NP_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:178354
    GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II
    PRK09060
    Location:14291810
    PRK09060; dihydroorotase; Validated
    PRK12564
    Location:1355
    PRK12564; carbamoyl phosphate synthase small subunit; Reviewed
    cd01316
    Location:14601806
    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:13131438
    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:3911440
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit
    pfam00185
    Location:20012150
    OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
    pfam00988
    Location:2138
    CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain
    pfam02729
    Location:19551994
    OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain
    pfam02786
    Location:514716
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    pfam02787
    Location:801921
    CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain
    cl17255
    Location:10481248
    ATP-grasp_4; ATP-grasp domain
  2. NM_001289523.2NP_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:178354
    GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II
    PLN02527
    Location:19242162
    PLN02527; aspartate carbamoyltransferase
    PRK09060
    Location:14291810
    PRK09060; dihydroorotase; Validated
    PRK12564
    Location:1355
    PRK12564; carbamoyl phosphate synthase small subunit; Reviewed
    cd01316
    Location:14601806
    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:13131438
    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:3911440
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit
    pfam00185
    Location:20112160
    OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
    pfam00988
    Location:2138
    CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain
    pfam02729
    Location:19252004
    OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain
    pfam02786
    Location:514716
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    pfam02787
    Location:801921
    CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain
    cl17255
    Location:10481248
    ATP-grasp_4; ATP-grasp domain
  3. NM_001403399.1NP_001390328.1  multifunctional protein CAD isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC109608
    UniProtKB/TrEMBL
    E9QAI5
  4. NM_001403400.1NP_001390329.1  multifunctional protein CAD isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC109608
    UniProtKB/TrEMBL
    E9QAT6, Q7TN13
    Related
    ENSMUSP00000144127.2, ENSMUST00000201838.4
  5. NM_023525.3NP_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:178354
    GATase1_CPSase; Small chain of the glutamine-dependent form of carbamoyl phosphate synthase, CPSase II
    PRK09060
    Location:14291810
    PRK09060; dihydroorotase; Validated
    PRK00856
    Location:19202224
    pyrB; aspartate carbamoyltransferase catalytic subunit; Provisional
    PRK12564
    Location:1355
    PRK12564; carbamoyl phosphate synthase small subunit; Reviewed
    cd01316
    Location:14601806
    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:13131438
    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:3911440
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit
    pfam00185
    Location:20722221
    OTCace; Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain
    pfam00988
    Location:2138
    CPSase_sm_chain; Carbamoyl-phosphate synthase small chain, CPSase domain
    pfam02729
    Location:19252065
    OTCace_N; Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain
    pfam02786
    Location:514716
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    pfam02787
    Location:801921
    CPSase_L_D3; Carbamoyl-phosphate synthetase large chain, oligomerization domain
    cl17255
    Location:10481248
    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