Aliases for CAD Gene
Aliases for CAD Gene
External Ids for CAD Gene
- HGNC: 1424
- Entrez Gene: 790
- Ensembl: ENSG00000084774
- OMIM: 114010
- UniProtKB: P27708
Previous GeneCards Identifiers for CAD Gene
- GC02P027361
- GC02P027532
- GC02P027414
- GC02P027351
- GC02P027440
- GC02P027181
Summaries 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
GeneCards Summary for CAD Gene
CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase) is a Protein Coding gene. Diseases associated with CAD include Epileptic Encephalopathy, Early Infantile, 50. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is CPS1.
UniProtKB/Swiss-Prot for CAD Gene
-
This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase).
Additional gene information for CAD Gene
- Monarch Initiative
- Search for CAD at DataMed
- Search for CAD at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAD Gene
Genomics for CAD Gene
GeneHancer (GH) Regulatory Elements for CAD Gene
Promoters and enhancers for CAD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CAD on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CAD gene promoter:
Regulatory Element Products
Genomic Locations for CAD Gene
Genomic Locations for CAD Gene
- chr2:27,217,390-27,243,943
- (GRCh38/hg38)
- Size:
- 26,554 bases
- Orientation:
- Plus strand
- chr2:27,440,258-27,466,811
- (GRCh37/hg19)
Genomic View for CAD Gene
Genes around CAD on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p23.3 by Ensembl
- 2p23.3 by Entrez Gene
- 2p23.3 by HGNC
CAD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CAD Gene
Proteins for CAD Gene
-
Protein details for CAD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P27708-PYR1_HUMAN
- Recommended name:
- CAD protein
- Protein Accession:
- P27708
- D6W552
- Q6P0Q0
- Q96CK3
Protein attributes for CAD Gene
- Size:
- 2225 amino acids
- Molecular mass:
- 242984 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
-
- Homohexamer (PubMed:24332717). Interacts with CIPC (PubMed:26657846).
- Miscellaneous:
-
- GATase (glutamine amidotransferase) and CPSase (carbamoyl phosphate synthase) form together the glutamine-dependent CPSase (GD-CPSase) (EC 6.3.5.5).
Protein Expression for CAD Gene
Selected DME Specific Peptides for CAD Gene
- P27708:
-
- SNGPGDP
- NYNPETVSTD
- TRIQKERF
- AAYFRQA
- DVHVHLR
- HVHLREPG
- FGICLGHQ
- GICLGHQL
- GRTVHSL
- HPTQALLD
- ASDHAPH
- DPRAAYF
- GHQLLAL
- VINAGDG
- PLIGNYG
Post-translational modifications for CAD Gene
- 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 UTP.
- Ubiquitination at posLast=165165, Lys186, posLast=490490, Lys696, Lys739, posLast=747747, posLast=778778, Lys1119, and posLast=13131313
Other Protein References for CAD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for CAD (CAD)
-
Custom Antibody ServicesOriGene Antibodies for CAD
- Novus Biologicals Antibodies for CAD
-
Abcam antibodies for CAD
- Invitrogen Antibodies for CAD
- GeneTex CAD antibody for CAD
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAD
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CAD
- Origene Custom Protein Services for CAD
- Novus Biologicals proteins for CAD
- antibodies-online: Search results for available CAD related products ranked by validation data
- Search GeneTex for Proteins for CAD
-
Abcam proteins for CAD
Assay Products
- antibodies-online: Search results for 1 available CAD Elisa Kits ranked by validation data
- Compare Top CAD Elisa Kits
-
Recommended
Domains & Families for CAD Gene
Gene Families for CAD Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for CAD Gene
- InterPro:
-
- CbamoylP_synth_lsu-like_ATP-bd
- PreATP-grasp_dom_sf
- ATP-grasp
- Metal_Hydrolase
- Amidohydro-rel
- Metal-dep_hydrolase_composite
- MGS-like_dom
- MGS-like_dom_sf
- Class_I_gatase-like
- Asp/Orn_carbamoyltranf_P-bd
- CarbamoylP_synth_ssu
- Asp/Orn_carbamoylTrfase_sf
- CarbP_synth_ssu_N_sf
- CarbamoylP_synth_lsu_oligo
- Asp_carbamoyltransf_Asp/Orn-bd
- GATASE
- CarbamoylP_synth_lsu
- CPSase_GATase1
- CarbamoylP_synth_ssu_N
- CarbamoylP_synth_lsu_oligo_sf
- Asp_carbamoyltransf
- Dihydroorotase_CS
- Asp/Orn_carbamoylTrfase
- CbamoylP_synth_lsu_CPSase_dom
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CAD Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P27708UniProtKB/Swiss-Prot:
PYR1_HUMAN :- In the central section; belongs to the metallo-dependent hydrolases superfamily. DHOase family. CAD subfamily.
- Family:
-
- In the central section; belongs to the metallo-dependent hydrolases superfamily. DHOase family. CAD subfamily.
Function for CAD Gene
Molecular function for CAD Gene
- GENATLAS Biochemistry:
- pyrimidine de novo biosynthesis,multifunctional polypeptide,200kDa (see CPS2,ASTC,DHO),putative up-regulated c-Myc target gene,DNA metabolism
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=28 uM for dihydroorotate {ECO:0000269 PubMed:24332717}; KM=241 uM for N-carbamoyl-L-aspartate {ECO:0000269 PubMed:24332717};
- UniProtKB/Swiss-Prot CatalyticActivity:
- 2 ATP + L-glutamine + HCO(3)(-) + H(2)O = 2 ADP + phosphate + L-glutamate + carbamoyl phosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Carbamoyl phosphate + L-aspartate = phosphate + N-carbamoyl-L-aspartate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- (S)-dihydroorotate + H(2)O = N-carbamoyl-L-aspartate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Allosterically regulated and controlled by phosphorylation. 5-phosphoribose 1-diphosphate (PRPP) is an activator while UMP and UTP are inhibitors of the CPSase reaction.
- UniProtKB/Swiss-Prot Function:
- This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase).
- UniProtKB/Swiss-Prot Induction:
- Transcriptionally repressed following hypoxia by HIF1A.
Enzyme Numbers (IUBMB) for CAD Gene
Phenotypes From GWAS Catalog for CAD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004070 | aspartate carbamoyltransferase activity | TAS,IEA | -- |
| GO:0004087 | carbamoyl-phosphate synthase (ammonia) activity | IBA | -- |
| GO:0004088 | carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity | IEA,TAS | -- |
Phenotypes for CAD Gene
- GenomeRNAi human phenotypes for CAD:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Decreased IL-8 secretion
- Increased transcriptional activity
- Increased circadian period length
- Decreased homologous recombination repair frequency
- Decreased viability of wild-type and TP53 knockout cells
- Decreased HIV-1 infection
- Upregulation of NF-kappaB pathway after LMP1 stimulation
- Increased viability with neratinib
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAD
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CAD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CAD gene
- Search ViGene Biosciences for CAD
CRISPR Products
-
OriGene CRISPR knockouts for CAD
- genomics-online: gRNA clones - Search results for available CAD gene related products
- Applied Biological Materials CRISPR for CAD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAD
- GenScript: Design CRISPR guide RNA sequences for CAD
miRNA for CAD Gene
- miRTarBase miRNAs that target CAD
-
- hsa-mir-1-3p (MIRT023598)
- hsa-mir-34a-5p (MIRT025309)
- hsa-mir-26b-5p (MIRT028960)
- hsa-mir-455-3p (MIRT037845)
- hsa-mir-505-5p (MIRT037941)
- hsa-mir-92b-3p (MIRT040681)
- hsa-mir-331-3p (MIRT043489)
- hsa-mir-301a-3p (MIRT044218)
- hsa-mir-186-5p (MIRT045293)
- hsa-mir-92a-3p (MIRT049353)
- hsa-mir-3200-3p (MIRT052821)
- hsa-mir-7856-5p (MIRT480192)
- hsa-mir-4477b (MIRT480193)
- hsa-let-7g-3p (MIRT480194)
- hsa-let-7a-2-3p (MIRT480195)
- hsa-mir-943 (MIRT480196)
- hsa-mir-486-3p (MIRT480197)
- hsa-mir-4722-5p (MIRT480198)
- hsa-mir-1286 (MIRT480199)
- hsa-mir-873-5p (MIRT480200)
- hsa-mir-4771 (MIRT480201)
- hsa-mir-4699-5p (MIRT480202)
- hsa-mir-4494 (MIRT480203)
- hsa-mir-4463 (MIRT480204)
- hsa-mir-3675-5p (MIRT480205)
- hsa-mir-552-3p (MIRT480206)
- hsa-mir-4735-3p (MIRT480207)
- hsa-mir-18b-5p (MIRT480208)
- hsa-mir-18a-5p (MIRT480209)
- hsa-mir-4662b (MIRT480210)
- hsa-mir-4647 (MIRT480211)
- hsa-mir-4426 (MIRT480212)
- hsa-mir-874-5p (MIRT484452)
- hsa-mir-4758-3p (MIRT484453)
- hsa-mir-5008-5p (MIRT484454)
- hsa-mir-6089 (MIRT484455)
- hsa-mir-7162-3p (MIRT484456)
- hsa-mir-4649-3p (MIRT484457)
- hsa-mir-6872-3p (MIRT484458)
- hsa-mir-3200-5p (MIRT484459)
- hsa-mir-1273g-3p (MIRT761915)
- hsa-mir-1285-3p (MIRT762190)
- hsa-mir-196a-3p (MIRT763485)
- hsa-mir-25-3p (MIRT764162)
- hsa-mir-3187-5p (MIRT765293)
- hsa-mir-32-5p (MIRT765576)
- hsa-mir-363-3p (MIRT766181)
- hsa-mir-367-3p (MIRT766620)
- hsa-mir-4793-3p (MIRT772367)
- hsa-mir-500a-3p (MIRT772967)
- hsa-mir-508-5p (MIRT773127)
- hsa-mir-5189-5p (MIRT773543)
- hsa-mir-612 (MIRT775834)
- hsa-mir-6499-3p (MIRT776214)
- hsa-mir-6512-3p (MIRT776881)
- hsa-mir-6516-5p (MIRT777077)
- hsa-mir-661 (MIRT777408)
- hsa-mir-6720-5p (MIRT777727)
- hsa-mir-6807-5p (MIRT779558)
- hsa-mir-6860 (MIRT780542)
- hsa-mir-766-3p (MIRT781834)
- hsa-mir-767-5p (MIRT781940)
- hsa-mir-7703 (MIRT781983)
- hsa-mir-939-3p (MIRT782788)
miRNA Products
- Search ViGene Biosciences for CAD
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAD
- Browse OriGene Inhibitory RNA Products For CAD
- genomics-online: shRNA clones - Search results for available CAD gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CAD gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CAD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CAD gene related products
- orf clones - Search results for available CAD gene related products
- Applied Biological Materials Clones for CAD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CAD
-
ViGene Biosciences adenoviral particle packaged cDNA for CAD gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CAD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CAD gene
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CAD Gene
Localization for CAD Gene
Subcellular locations from UniProtKB/Swiss-Prot for CAD Gene
- Cytoplasm. Nucleus. Note=Cytosolic and unphosphorylated in resting cells, translocates to the nucleus in response to EGF stimulation, nuclear import promotes optimal cell growth.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 15890648 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA,TAS | -- |
| GO:0016020 | membrane | IDA,HDA | 19946888 |
Pathways & Interactions for CAD Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pyrimidine metabolism (REACTOME) |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis | ||
| 4 | Alanine, aspartate and glutamate metabolism | ||
| 5 | Pyrimidine metabolism (KEGG) | ||
Pathways by source for CAD Gene
4 Cell Signaling Technology pathways for CAD Gene
6 BioSystems pathways for CAD Gene
4 Reactome pathways for CAD Gene
3 KEGG pathways for CAD Gene
1 GeneGo (Thomson Reuters) pathway for CAD Gene
1 R&D Systems pathway for CAD Gene
UniProtKB/Swiss-Prot P27708-PYR1_HUMAN
- 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.
Interacting Proteins for CAD Gene
Selected Interacting proteins:
ENSP00000264705
P27708-PYR1_HUMAN
for CAD Gene via
STRING
MINT
IID
UniProtKB
SIGNOR curated interactions for CAD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000050 | urea cycle | IBA | -- |
| GO:0001889 | liver development | IEA | -- |
| GO:0006207 | de novo pyrimidine nucleobase biosynthetic process | IEA,ISS | -- |
| GO:0006221 | pyrimidine nucleotide biosynthetic process | IEA | -- |
| GO:0006228 | UTP biosynthetic process | IEA | -- |
Drugs & Compounds for CAD Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| L-Aspartic acid | Approved | Nutra | Target | 0 | ||
| L-Glutamine | Approved, Investigational | Nutra | Full agonist, Agonist, Enzyme, substrate | 0 | ||
| Ammonia | Approved | Pharma | 0 | |||
| Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 64 | ||
| Phosphoric acid | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Carbamoyl phosphate |
|
590-55-6 | ||||
| 4,5-Dihydroorotic acid |
|
155-54-4 |
|
|||
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Carbonic acid |
|
463-79-6 |
|
|||
| L-Dihydroorotic acid |
|
5988-19-2 |
|
Transcripts for CAD Gene
mRNA/cDNA for CAD Gene
- (4) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (293) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CAD Gene
CRISPR Products
-
OriGene CRISPR knockouts for CAD
- genomics-online: gRNA clones - Search results for available CAD gene related products
- Applied Biological Materials CRISPR for CAD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAD
- GenScript: Design CRISPR guide RNA sequences for CAD
miRNA Products
- Search ViGene Biosciences for CAD
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAD
- Browse OriGene Inhibitory RNA Products For CAD
- genomics-online: shRNA clones - Search results for available CAD gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CAD gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CAD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CAD gene related products
- orf clones - Search results for available CAD gene related products
- Applied Biological Materials Clones for CAD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 41a | · | 41b | · | 41c | · | 41d | · | 41e | · | 41f | ^ | 42 | ^ | 43a | · | 43b | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||
| SP12: |
Expression for CAD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Bone (Muscoskeletal System)
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
- Eye (Sensory Organs)
-
Lymph (Hematopoietic System)
This gene is overexpressed in Peripheral blood mononuclear cells (13.4), Breast (7.4), and Lymph node (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAD Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CAD Gene:
CADSOURCE GeneReport for Unigene cluster for CAD Gene:
Hs.377010Evidence on tissue expression from TISSUES for CAD Gene
- Liver(4.6)
- Eye(4.5)
- Heart(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CAD Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- head
Abdomen:
- kidney
Limb:
- lower limb
General:
- blood
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for CAD
- genomics-online: primer clones - Search results for available CAD gene related products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CAD Gene
Orthologs for CAD Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CAD 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CAD 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CAD 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CAD 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cad 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cad 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CAD 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CAD 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CAD 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cad 33 |
|
||
| Str.435 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24787 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cad 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | r 35 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000300 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pyr-1 33 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR263C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E15357g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | URA2 33 34 |
|
||
| CPA2 36 |
|
|
|||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08287 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ura1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4454 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9135 33 |
|
- Species where no ortholog for CAD was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CAD Gene
(1) SIMAP similar genes for CAD Gene using alignment to 8 proteins:
Variants for CAD Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519262 | pathogenic, Epileptic encephalopathy, early infantile, 50 | 27,226,128(+) | C/T | intron_variant | |
| rs374122292 | A colorectal cancer sample | 27,222,553(+) | G/A | coding_sequence_variant, missense_variant | |
| rs62130681 | pathogenic, Epileptic encephalopathy, early infantile, 50 | 27,239,442(+) | C/A/T | coding_sequence_variant, stop_gained, synonymous_variant | |
| rs751610198 | pathogenic, likely-pathogenic, Epileptic encephalopathy, early infantile, 50, not provided, Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] | 27,217,892(+) | T/G | coding_sequence_variant, missense_variant | |
| rs763410987 | Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] | 27,242,098(+) | G/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
0.0663% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.14;
51.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CAD Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAD Gene
Disorders for CAD Gene
(1) MalaCards diseases for CAD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 50 |
|
Search CAD in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PYR1_HUMAN- Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine. {ECO:0000269 PubMed:25678555, ECO:0000269 PubMed:28087732}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CAD
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CAD Gene
Publications for CAD Gene
- Molecular cloning of a human cDNA encoding a trifunctional enzyme of carbamoyl-phosphate synthetase-aspartate transcarbamoylase-dihydroorotase in de Novo pyrimidine synthesis. (PMID: 8619816) Iwahana H … Itakura M (Biochemical and biophysical research communications 1996) 2 3 4 22 58
- Transcriptional repression of human cad gene by hypoxia inducible factor-1alpha. (PMID: 16155188) Chen KF … Tsai SJ (Nucleic acids research 2005) 3 4 22 58
- Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD. (PMID: 15890648) Sigoillot FD … Guy HI (The Journal of biological chemistry 2005) 3 4 22 58
- Organization and nucleotide sequence of the 3' end of the human CAD gene. (PMID: 1979741) Davidson JN … Chen KC (DNA and cell biology 1990) 3 4 22 58
- Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. (PMID: 25678555) Ng BG … Freeze HH (Human molecular genetics 2015) 3 4 58
Products for CAD Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CAD
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CAD
- Origene Custom Protein Services for CAD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAD
- Browse OriGene Inhibitory RNA Products For CAD
- OriGene qPCR primer pairs for CAD
- OriGene CRISPR knockouts for CAD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CAD
- GenScript: Next-day shipping of latest version cDNA ORF clones for CAD in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CAD
- GenScript Custom Assay Services for CAD
- GenScript Custom overexpressing Cell Line Services for CAD
- GenScript: Design CRISPR guide RNA sequences for CAD
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CAD
- Cell Signaling Technology (CST) Antibodies for CAD (CAD)
- Search for Antibodies & Assays
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for CAD
- Novus Biologicals proteins for CAD
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CAD
- Abcam proteins for CAD
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for CAD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAD
- VectorBuilder custom plasmid, inducible vectors for CAD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAD
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 107 available CAD Antibodies ranked by validation data
- Compare Top CAD Antibodies
- antibodies-online: Search results for 1 available CAD Elisa Kits ranked by validation data
- Compare Top CAD Elisa Kits
- Recommended
- antibodies-online: Search results for available CAD related products ranked by validation data
- GeneTex CAD antibody for CAD
- Search GeneTex for Proteins for CAD
- ViGene Biosciences adenoviral particle packaged cDNA for CAD gene
- ViGene Biosciences lentiviral particle packaged cDNA for CAD gene
- ViGene Biosciences ready-to-package AAV shRNAs for CAD gene
- Search ViGene Biosciences for CAD
- Santa Cruz Biotechnology (SCBT) Antibodies for CAD
- Search Santa Cruz Biotechnology (SCBT) for CAD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CAD
- Horizon Cell Lines for CAD
- genomics-online: cdna clones - Search results for available CAD gene related products
- orf clones - Search results for available CAD gene related products
- genomics-online: gRNA clones - Search results for available CAD gene related products
- genomics-online: primer clones - Search results for available CAD gene related products
- genomics-online: shRNA clones - Search results for available CAD gene related products
Sources for CAD Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65)