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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CAD Gene

protein-coding   GIFtS: 68
GCID: GC02P027440

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

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with CAD include t cell deficiency, and fibrosarcoma, and among its related super-pathways are Metabolic pathways and UMP biosynthesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CAD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PYR1_HUMAN, P27708 (See protein sequence)
Recommended Name: CAD protein  
Size: 2225 amino acids; 242984 Da
Cofactor: Binds 1 zinc ion per subunit (for dihydroorotase activity) (Potential)
Subunit: Homohexamer
Subcellular location: Cytoplasm
Miscellaneous: GATase (glutamine amidotransferase) and CPSase (carbamoyl phosphate synthase) form together the
glutamine-dependent CPSase (GD-CPSase) (EC 6.3.5.5)
Secondary accessions: D6W552 Q6P0Q0

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

Explore proteomics data for CAD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27708

  • 4/15 DME Specific Peptides for CAD (P27708) (see all 15)
     DPRAAYF  GHQLLAL  DVHVHLR  SNGPGDP 

    CAD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAD Protein Expression
    REFSEQ proteins: NP_004332.2  
    ENSEMBL proteins: 
     ENSP00000264705   ENSP00000384510   ENSP00000414742   ENSP00000388740   ENSP00000405416  
    Reactome Protein details: P27708
    Human Recombinant Protein Products for CAD: 
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    Novus Biologicals CAD Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAD 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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--

    CAD for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for CAD 
    Cloud-Clone Corp. CLIAs for CAD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/19 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

    5/7 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


    CAD for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 is an
    activator while UMP is an inhibitor of the CPSase reaction

         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): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    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--
         
    CAD for ontologies           About GeneDecksing


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

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       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAD 
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CAD:
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    SwitchGear 3'UTR luciferase reporter plasmidCAD 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CAD About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Pyrimidine biosynthesis
    Pyrimidine biosynthesis0.33
    UMP biosynthesis0.33
    3superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli)
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.86
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.71
    4Pyrimidine metabolism
    Pyrimidine metabolism0.50
    5Purine metabolism
    Metabolism of nucleotides0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CAD
        Transcription Ligand-dependent activation of the ESR1/SP pathway


    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

    4        Reactome Pathways for CAD
        Metabolism of nucleotides
    Metabolism
    Pyrimidine metabolism
    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


    CAD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAD

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

    5/510 Interacting proteins for CAD (P277082, 3 ENSP000002647054) via UniProtKB, MINT, STRING, and/or I2D (see all 510)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (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--

    CAD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CAD for compounds           About GeneDecksing

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

    Browse Tocris compounds for CAD (PYR1)

    10/15 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

    10/21 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)

    Search CenterWatch for drugs/clinical trials and news about CAD / PYR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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
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      QIAGEN 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 

    24/293 AceView cDNA sequences (see all 293):

    BP345421 BM668602 BU838530 BM772042 BQ065920 BQ057302 BU688097 AL039623 
    BC014178 BU171302 BQ957714 BF515745 AA293554 BM825059 AI499291 BG395722 
    BQ056225 BM927635 BU153614 BU187133 BC065510 BU193066 BQ214306 AA599137 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CAD expression in normal human tissues (normalized intensities)      CAD embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
             BONE MARROW   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             BONE MARROW   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See CAD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAD

    SOURCE GeneReport for Unigene cluster: Hs.377010
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CAD gene from 7/21 species (see all 21)    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 75.52(n)
    81.47(a)
      428659  XM_003641068.1  XP_003641116.1 
    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
    63.56(n)1
    65.66(a)1
      326401  NM_078653.11  NP_523377.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pyr-11 Protein PYR-1 56.94(n)
    59.49(a)
      174385  NM_063437.3  NP_495838.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPA2(YJR109C)4
    URA21
    Large subunit of carbamoyl phosphate synthetase, which more4
    Ura2p1
    52.57(n)1
    53.43(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)
    About This Section
    Paralogs for CAD gene
    CPS12  
    1 SIMAP similar gene for CAD using alignment to 9 protein entries:     PYR1_HUMAN (see all proteins):
    CPS1

    CAD for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/903 SNPs in CAD are shown (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

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

    15 diseases for CAD:    About MalaCards
    t cell deficiency    fibrosarcoma    burkitt's lymphoma    pneumonia
    hepatitis c    hypoxia    tuberculosis    schizophrenia
    breast cancer    hepatitis    prostate cancer    adenocarcinoma
    prostatitis    leukemia    neuronitis


    CAD for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CAD gene, integrated from 9 sources (see all 148):
    (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. (1996)
    2. 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. (1990)
    3. Common variants conferring risk of schizophrenia: a p athway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study. (PubMed id 15621215)1, 4 Stessman J....Ebstein R.P. (2005)
    8. 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. (2004)
    9. Mapping of the gene encoding the multifunctional protein carrying out the first three steps of pyrimidine biosynthesis to human chromosome 2. (PubMed id 2565865)1, 3 Chen K.C....Davidson J.N. (1989)
    10. Estrogen receptor/Sp1 complexes are required for induction of cad gene expression by 17beta-estradiol in breast cancer cells. (PubMed id 12746293)1, 9 Khan S....Safe S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 790 HGNC: 1424 AceView: CAD Ensembl:ENSG00000084774 euGenes: HUgn790
    ECgene: CAD Kegg: 790 H-InvDB: CAD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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