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

    Gene ID: 69719, updated on 21-Apr-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 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
    human all
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    Genomic context

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    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
    • 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. Afatinib Exerts Immunomodulatory Effects by Targeting the Pyrimidine Biosynthesis Enzyme CAD. Tu HF, et al. Cancer Res, 2021 Jun 15. PMID 33771897
    3. 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
    4. Novel role for caspase-activated DNase in the regulation of pathological cardiac hypertrophy. Gao L, et al. Hypertension, 2015 Apr. PMID 25646292
    5. 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

    See all (38) 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 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 glutaminase activity IEA
    Inferred from Electronic Annotation
    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

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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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