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CAD Gene

protein-coding   GIFtS: 69
GCID: GC02P027440

Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase,...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And
Dihydroorotase1 2
     EC 2.1.3.28
CAD Protein2     EC 3.5.2.38
CAD Trifunctional Protein2     EC 6.3.58
Multifunctional Protein CAD2     EC 6.3.5.58

External Ids:    HGNC: 14241   Entrez Gene: 7902   Ensembl: ENSG000000847747   OMIM: 1140105   UniProtKB: P277083   

Export aliases for CAD gene to outside databases

Previous GC identifers: GC02P027361 GC02P027532 GC02P027414 GC02P027351 GC02P027181


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CAD Gene:
The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes
a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step
pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and
dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates
a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CAD Gene:
CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is a protein-coding gene. GO annotations related to this gene include protein kinase activity and identical protein binding. An important paralog of this gene is CPS1.

UniProtKB/Swiss-Prot: PYR1_HUMAN, P27708
Function: This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase,
CPSase, ATCase and DHOase)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAD gene promoter:
         PPAR-gamma1   AP-1   ATF-2   MyoD   c-Jun   PPAR-gamma2   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAD promoter sequence
   Search Chromatin IP Primers for CAD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p22-p21   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p22-p21

CAD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAD gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027440:  view genomic region     (about GC identifiers)

Start:
27,440,258 bp from pter      End:
27,466,811 bp from pter
Size:
26,554 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PYR1_HUMAN, P27708 (See protein sequence)
Recommended Name: CAD protein  
Size: 2225 amino acids; 242984 Da
Cofactor: Binds 3 zinc ions per subunit (for dihydroorotase activity)
Subunit: Homohexamer
Miscellaneous: GATase (glutamine amidotransferase) and CPSase (carbamoyl phosphate synthase) form together the
glutamine-dependent CPSase (GD-CPSase) (EC 6.3.5.5)
3 PDB 3D structures from and Proteopedia for CAD:
4C6C (3D)        4C6I (3D)        4C6M (3D)    
Secondary accessions: D6W552 Q6P0Q0 Q96CK3

Explore the universe of human proteins at neXtProt for CAD: NX_P27708

Explore proteomics data for CAD at MOPED

Post-translational modifications: 

  • Activated by MAP kinase (Erk1/2) phosphorylation just prior to the S phase of the cell cycle, when the demand for
    pyrimidine nucleotides is greatest, and down-regulated as the cells emerge from S phase by protein kinase A (PKA)
    phosphorylation. Phosphorylation at Ser-1859 by RPS6KB1 downstream of MTOR promotes oligomerization and
    stimulates dihydroorotase activity. Phosphorylation at Ser-1406 reduces sensitivy to feedback inhibition by UTP1
  • Ubiquitination2 at Lys165, Lys186, Lys490, Lys696, Lys739, Lys747, Lys778, Lys1119, Lys1313, Lys1411
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CAD (P27708) (see all 15)
     DPRAAYF  GHQLLAL  DVHVHLR  SNGPGDP 


    See CAD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004332.2  
    ENSEMBL proteins: 
     ENSP00000264705   ENSP00000384510   ENSP00000414742   ENSP00000388740   ENSP00000405416  
    Reactome Protein details: P27708

    CAD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CAD
    GenScript Custom Purified and Recombinant Proteins Services for CAD
    Novus Biologicals CAD Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAD

     
    Search eBioscience for Proteins for CAD 

    CAD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CAD 
    OriGene Antibodies for CAD
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    Novus Biologicals CAD Antibodies
    Abcam antibodies for CAD
    Cloud-Clone Corp. Antibodies for CAD
    ThermoFisher Antibodies for CAD
    LSBio Antibodies in human, mouse, rat for CAD

    CAD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CAD
    Cloud-Clone Corp. CLIAs for CAD
    Search eBioscience for ELISAs for CAD 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 19):
     IPR006132 Asp/Orn_carbamoyltranf_P-bd
     IPR005481 CarbamoylP_synth_lsu_N
     IPR006131 Asp_carbamoyltransf_Asp/Orn-bd
     IPR011059 Metal-dep_hydrolase_composite
     IPR016185 PreATP-grasp_dom

    Graphical View of Domain Structure for InterPro Entry P27708

    ProtoNet protein and cluster: P27708

    Selected Blocks protein domains (see all 7):
    IPB000991 Glutamine amidotransferase class-I
    IPB001317 Carbamoyl-phosphate synthase protein GATase domain signature
    IPB002082 Aspartate carbamoyltransferase signature
    IPB002195 Dihydroorotase
    IPB002474 Carbamoyl-phosphate synthase


    UniProtKB/Swiss-Prot: PYR1_HUMAN, P27708
    Similarity: In the central section; belongs to the DHOase family
    Similarity: Contains 2 ATP-grasp domains
    Similarity: Contains 1 glutamine amidotransferase type-1 domain


    Find genes that share domains with CAD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYR1_HUMAN, P27708
    Function: This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase,
    CPSase, ATCase and DHOase)
    Catalytic activity: 2 ATP + L-glutamine + HCO(3)(-) + H(2)O = 2 ADP + phosphate + L-glutamate + carbamoyl
    phosphate
    Catalytic activity: Carbamoyl phosphate + L-aspartate = phosphate + N-carbamoyl-L-aspartate
    Catalytic activity: (S)-dihydroorotate + H(2)O = N-carbamoyl-L-aspartate
    Enzyme regulation: Allosterically regulated and controlled by phosphorylation. 5-phosphoribose 1-diphosphate
    (PRPP) is an activator while UMP and UTP are inhibitors of the CPSase reaction
    Biophysicochemical properties: Kinetic parameters: KM=28 uM for dihydroorotate; KM=241 uM for
    N-carbamoyl-L-aspartate;
    Induction: Transcriptionally repressed following hypoxia by HIF1A

         Genatlas biochemistry entry for CAD:
    pyrimidine de novo biosynthesis,multifunctional polypeptide,200kDa (see CPS2,ASTC,DHO),putative up-regulated c-Myc
    target gene,DNA metabolism

         Enzyme Numbers (IUBMB): EC 2.1.3.22 EC 3.5.2.32 EC 6.3.52 EC 6.3.5.52

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004070aspartate carbamoyltransferase activity TAS--
    GO:0004088carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity TAS--
    GO:0004151dihydroorotase activity TAS--
    GO:0004672protein kinase activity ISS--
         
    Find genes that share ontologies with CAD           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for CAD:
     Decreased homologous recombina  Decreased viability of wild-ty  Increased circadian rhythm amp  Upregulation of NF-kappaB path 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAD

    miRNA
    Products:
        
    miRTarBase miRNAs that target CAD:
    hsa-mir-331-3p (MIRT043489), hsa-mir-186-5p (MIRT045293), hsa-mir-1 (MIRT023598), hsa-mir-3200-3p (MIRT052821), hsa-mir-34a-5p (MIRT025309), hsa-mir-301a-3p (MIRT044218), hsa-mir-92a-3p (MIRT049353), hsa-mir-505-5p (MIRT037941), hsa-mir-26b-5p (MIRT028960), hsa-mir-92b-3p (MIRT040681), hsa-mir-455-3p (MIRT037845)

    Block miRNA regulation of human, mouse, rat CAD using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CAD:
    hsa-miR-502-5p hsa-let-7g* hsa-miR-936 hsa-miR-324-3p hsa-miR-1207-3p hsa-let-7a-2* hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidCAD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CAD
    Predesigned siRNA for gene silencing in human, mouse, rat CAD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CAD

    Clone
    Products:
         
    OriGene clones in human, mouse for CAD (see all 6)
    OriGene ORF clones in mouse, rat for CAD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAD (NM_001608)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAD

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CAD
    Browse ESI BIO Cell Lines and PureStem Progenitors for CAD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PYR1_HUMAN, P27708: Cytoplasm. Nucleus. Note=Cytosolic and unphosphorylated in resting cells, translocates to
    the nucleus in response to EGF stimulation, nuclear import promotes optimal cell growth
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15890648
    GO:0005829cytosol TAS--
    GO:0016363nuclear matrix IDA9525610
    GO:0042995cell projection ISS--
    GO:0043025neuronal cell body ISS--

    Find genes that share ontologies with CAD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CAD About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Pyrimidine metabolism0.33
    UMP biosynthesis0.00
    Pyrimidine biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.52
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.00
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    5Purine metabolism (KEGG)
    Pyrimidine metabolism0.38


    Find genes that share SuperPaths with CAD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Cell Signaling Technology (CST) Pathways for CAD
        MAP Kinase Signaling
    Cell Cycle / Checkpoint Control
    PI3K / Akt Signaling
    Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for CAD
        Transcription Ligand-dependent activation of the ESR1/SP pathway

    5 BioSystems Pathways for CAD
        superpathway of pyrimidine ribonucleotides de novo biosynthesis
    Endothelin
    UMP biosynthesis
    Validated targets of C-MYC transcriptional activation
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis

    1 Reactome Pathway for CAD
        Pyrimidine biosynthesis


    3 Kegg Pathways  (Kegg details for CAD):
        Pyrimidine metabolism
    Alanine, aspartate and glutamate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PYR1_HUMAN, P27708
    Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step
    1/3
    Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step
    2/3
    Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step
    3/3

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAD: 

              Amino Acid Metabolism I in human mouse rat
              TNF Ligands & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CAD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CAD (P277082, 3 ENSP000002647054) via UniProtKB, MINT, STRING, and/or I2D (see all 658)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=2 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=2 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006207'de novo' pyrimidine nucleobase biosynthetic process ISS--
    GO:0006228UTP biosynthetic process IEA--
    GO:0006520cellular amino acid metabolic process ----
    GO:0006541glutamine metabolic process ISS--

    Find genes that share ontologies with CAD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CAD (PYR1)

    Selected HMDB Compounds for CAD (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,5-Dihydroorotic acid(+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate (see all 12)155-54-4--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    AmmoniaNH3 (see all 31)7664-41-7--
    CarbamoylphosphateCarbamoylphosphate (see all 9)590-55-6--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    L-Dihydroorotic acid(S)-4,5-Dihydroorotate (see all 6)5988-19-2--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--

    3 DrugBank Compounds for CAD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-(Phosphonacetyl)-L-Aspartic Acid-- --target--17139284 17016423 10592235
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17139284 17016423
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 17016423

    Selected Novoseek inferred chemical compound relationships for CAD gene (see all 21)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carbamoyl phosphate 91.8 40 15326225 (3), 11872754 (1), 12438317 (1), 14991569 (1) (see all 19)
    n-phosphonacetyl-l-aspartate 90.5 12 9418900 (4), 8178710 (1), 11121244 (1), 12209881 (1) (see all 7)
    carbamoyl-aspartate 89.8 5 1967653 (2), 15610022 (1), 10517371 (1)
    phosphonoacetamide 89.6 4 2271529 (2), 2405902 (1)
    dihydroorotate 89.1 12 1979549 (2), 1967653 (1), 11080587 (1), 15610022 (1) (see all 8)
    orotidine 5'-monophosphate 85.7 5 11080587 (1), 19230569 (1), 7916185 (1)
    pyrimidine 84 30 12438317 (3), 8587126 (2), 14991569 (2), 9406429 (1) (see all 21)
    orotic acid 83.1 9 1974280 (2), 14746536 (1), 11080587 (1), 19230569 (1) (see all 6)
    aspartate 78.3 62 8587126 (2), 1444372 (2), 9344472 (2), 9050862 (2) (see all 37)
    prpp 69.4 2 10597272 (1)



    Find genes that share compounds with CAD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for CAD gene: 
    NM_004341.3  

    Unigene Cluster for CAD:

    Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
    Hs.377010  [show with all ESTs]
    Unigene Representative Sequence: BC065510
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264705(uc002rji.3 uc010eyw.3) ENST00000403525 ENST00000491891
    ENST00000464159 ENST00000475695 ENST00000479002 ENST00000458503 ENST00000456311
    ENST00000487239 ENST00000491461 ENST00000428460
    miRNA
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    Block miRNA regulation of human, mouse, rat CAD using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CAD:
    hsa-miR-502-5p hsa-let-7g* hsa-miR-936 hsa-miR-324-3p hsa-miR-1207-3p hsa-let-7a-2* hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidCAD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CAD
    Predesigned siRNA for gene silencing in human, mouse, rat CAD
    Clone
    Products:
         
    OriGene clones in human, mouse for CAD (see all 6)
    OriGene ORF clones in mouse, rat for CAD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAD (NM_001608)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAD
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CAD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAD
      QuantiTect SYBR Green Assays in human, mouse, rat CAD
      QuantiFast Probe-based Assays in human, mouse, rat CAD

    Additional mRNA sequence: 

    AB621827.1 AK226105.1 AL832309.1 BC014178.2 BC065510.1 D78586.1 

    10 DOTS entries:

    DT.40281285  DT.95336498  DT.91643392  DT.95143673  DT.100775623  DT.92019779  DT.86859832  DT.92440335 
    DT.102823198  DT.121001945 

    Selected AceView cDNA sequences (see all 293):

    BM917236 NM_004341 BQ928813 BF515745 BC065510 BU153614 BM827506 BU558264 
    BM927635 BM927624 BG393415 BM452410 AW732282 BE260613 BF515119 BM460661 
    BQ957714 AA708949 BM693275 BQ214306 BQ959346 BQ061550 BQ056225 BI438340 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAD (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
    SP1:                    -                                                                                                                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40a · 40b ^
    SP1:                                -                             -                                               -           -                                 
    SP2:                                                                                                  -     -     -           -                                 
    SP3:                                                                                                              -                                             
    SP4:                                                              -           -     -     -     -     -     -     -     -     -     -     -                     
    SP5:                                                                                                                                                            

    ExUns: 41a · 41b · 41c · 41d · 41e · 41f ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46a · 46b
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                    -     -     -     -     -                                 


    ECgene alternative splicing isoforms for CAD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CAD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGTGGGGC
    CAD Expression
    About this image


    CAD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
    CAD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.377010
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAD: 
              Amino Acid Metabolism I in human mouse rat
              TNF Ligands & Receptors in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CAD gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cad1 , 5 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, more1, 5 88.7(n)1
    95.37(a)1
      5 (16.95 cM)5
    697191  NM_023525.11  NP_076014.11 
     310547805 
    chicken
    (Gallus gallus)
    Aves CAD1 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, more 75.3(n)
    81.49(a)
      428659  XM_003641068.2  XP_003641116.2 
    lizard
    (Anolis carolinensis)
    Reptilia CAD6
    carbamoyl-phosphate synthetase 2, aspartate transc...
    80(a)
    1 ↔ 1
    AAWZ02036500(57-24966)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247872 Xenopus laevis transcribed sequence with moderate similarity more 79.73(n)    CA985873.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cad2 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, more 80.26(n)   266992  BI890762.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta r1 , 3 'de novo' pyrimidine base biosynthesis
    aspartate more3
    rudimentary1
    52(a)3
    63.52(n)1
    65.73(a)1
      326401  NM_078653.11  NP_523377.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pyr-11 pyr-1 56.97(n)
    59.34(a)
      174385  NM_063437.4  NP_495838.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPA2(YJR109C)4
    URA21
    Large subunit of carbamoyl phosphate synthetase, which more4
    URA21
    52.72(n)1
    53.47(a)1
      10(632941-629585)4
    8533111  NP_012405.21  8535734 
     NP_012643.14 


    ENSEMBL Gene Tree for CAD (if available)
    TreeFam Gene Tree for CAD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAD gene
    CPS12  
    1 SIMAP similar gene for CAD using alignment to 8 protein entries:     PYR1_HUMAN (see all proteins):
    CPS1

    Find genes that share paralogs with CAD           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CAD (see all 903)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358984
    A colorectal cancer sample4--see VAR_0358982 Y C mis40--------
    VAR_0358974
    A colorectal cancer sample4--see VAR_0358972 R Q mis40--------
    rs1171602581,2
    C--27180006(+) AATATA/GATGTA 1 -- us2k11Minor allele frequency- G:0.01EA 120
    rs1440874491,2
    C--27180044(+) TACTTC/TGCAGA 1 -- us2k10--------
    rs1444598241,2
    C,F--27180077(+) AAGGTG/AACTTG 1 -- us2k11Minor allele frequency- A:0.00NA 4552
    rs1478211071,2
    C--27180095(+) CCTTCC/TGTGGC 1 -- us2k11Minor allele frequency- T:0.00NA 4552
    rs2012628541,2
    C--27180106(+) TTTACG/TCAGCT 1 -- us2k10--------
    rs2018273141,2
    C,F--27180131(+) TAAGGG/ATATGG 1 -- us2k11Minor allele frequency- A:0.00EU 1323
    rs2004159951,2
    --27180213(+) ATACTA/GCCACA 1 -- us2k10--------
    rs1426925641,2
    F--27180219(+) CCACAA/GCATGT 1 -- us2k11Minor allele frequency- G:0.00NA 4550

    HapMap Linkage Disequilibrium report for CAD (27440258 - 27466811 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CAD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873754CNV Loss21882294
    esv275571CNV Loss21479260
    nsv833603CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAD
    DNA2.0 Custom Variant and Variant Library Synthesis for CAD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 114010    OMIM disorders: --


    Find genes that share disorders with CAD           About GenesLikeMe

    3 Novoseek inferred disease relationships for CAD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrosarcoma 21.2 1 7746853 (1)
    breast cancer 0 5 12746293 (2), 16675542 (1)
    tumors 0 2 9050862 (1), 10657901 (1)

    Genetic Association Database (GAD): CAD
    Human Genome Epidemiology (HuGE) Navigator: CAD (1314 documents)

    Export disorders for CAD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CAD gene, integrated from 10 sources (see all 154):
    (articles sorted by number of sources associating them with CAD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a human cDNA encoding a trifunctional enzyme of carbamoyl-phosphate synthetase-aspartate transcarbamoylase- dihydroorotase in de Novo pyrimidine synthesis. (PubMed id 8619816)1, 2, 3, 9 Iwahana H.... Itakura M. (Biochem. Biophys. Res. Commun. 1996)
    2. Transcriptional repression of human cad gene by hypoxia inducible factor-1alpha. (PubMed id 16155188)1, 2, 9 Chen K.F....Tsai S.J. (Nucleic Acids Res. 2005)
    3. Organization and nucleotide sequence of the 3' end of the human CAD gene. (PubMed id 1979741)1, 2, 9 Davidson J.N....Chen K.C. (DNA Cell Biol. 1990)
    4. Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD. (PubMed id 15890648)1, 2, 9 Sigoillot F.D....Guy H.I. (J. Biol. Chem. 2005)
    5. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (Schizophr. Res. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study. (PubMed id 15621215)1, 4 Stessman J....Ebstein R.P. (Mech. Ageing Dev. 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 790 HGNC: 1424 AceView: CAD Ensembl:ENSG00000084774 euGenes: HUgn790
    ECgene: CAD Kegg: 790 H-InvDB: CAD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CAD Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Aspartate_carbamoyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CAD gene:
    Search GeneIP for patents involving CAD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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