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Aliases for CAD Gene

Aliases for CAD Gene

  • Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase 2 3 5
  • Multifunctional Protein CAD 3
  • CAD Trifunctional Protein 3
  • CAD Protein 3
  • EC 6.3.5.5 61
  • EC 2.1.3.2 61
  • EC 3.5.2.3 61
  • EC 6.3.5 61
  • EIEE50 3
  • CDG1Z 3
  • GATD4 3

External Ids for CAD Gene

Previous GeneCards Identifiers for CAD Gene

  • GC02P027361
  • GC02P027532
  • GC02P027414
  • GC02P027351
  • GC02P027440
  • GC02P027181

Summaries for CAD Gene

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. 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 Congenital Disorder Of Glycosylation, Type Iz. Among its related pathways are MAPK Signaling: Mitogen Stimulation Pathway and Endothelin Pathways. 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).

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

Regulatory Elements for CAD Gene

Enhancers for CAD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027719 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.9 +503.4 503358 2.5 SIN3A GLI4 BRCA1 ZNF2 GATA2 ZNF416 FOS SP3 TSHZ1 ZNF623 ZNF512 CAD GPN1 GTF3C2 ENSG00000272148 AGBL5-IT1 SNX17 ENSG00000272056 LOC105374363 RBKS
GH02G026717 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 15.3 -495.1 -495136 10.1 HDGF FOXA2 MLX CREB3L1 SIN3A DMAP1 YY1 ZNF766 FOS ZNF263 CENPA GPN1 CAD LOC105374363 ZNF512 NRBP1 GTF3C2-AS1 KCNK3 SLC35F6 ENSG00000235267
GH02G027049 1.2 ENCODE 25.7 -166.3 -166322 3.2 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ZNF512 KHK CAD LOC105374363 GPN1 ENSG00000272148 NRBP1 GTF3C2-AS1 GAREM2 AGBL5-IT1
GH02G027496 1.1 ENCODE 27.6 +279.5 279548 1.0 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF416 FOS SP3 CAD GTF3C2 LOC105374363 GPN1 ZNF512 ENSG00000272148 AGBL5-IT1 SNX17 ENSG00000272056 GCKR
GH02G027069 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -140.9 -140897 14.9 MLX CREB3L1 AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 KHK SNX17 ZNF512 CAD GTF3C2 ENSG00000235267 GPN1 OST4 HADHA NRBP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAD on UCSC Golden Path with GeneCards custom track

Promoters for CAD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114402 310 1001 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for CAD Gene

Chromosome:
2
Start:
27,217,390 bp from pter
End:
27,243,943 bp from pter
Size:
26,554 bases
Orientation:
Plus strand

Genomic View for CAD Gene

Genes around CAD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for CAD Gene

neXtProt entry 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 Lys165, posLast=186186, posLast=490490, posLast=696696, posLast=739739, Lys747, Lys778, Lys1119, and posLast=13131313
  • Modification sites at PhosphoSitePlus

Domains & Families for CAD Gene

Suggested Antigen Peptide Sequences for CAD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27708

UniProtKB/Swiss-Prot:

PYR1_HUMAN :
  • In the central section; belongs to the DHOase family.
Family:
  • In the central section; belongs to the DHOase family.
genes like me logo Genes that share domains with CAD: view

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

Gene Ontology (GO) - Molecular Function for CAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004070 aspartate carbamoyltransferase activity TAS,IEA --
GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IEA,TAS --
GO:0004151 dihydroorotase activity TAS --
GO:0004672 protein kinase activity ISS --
genes like me logo Genes that share ontologies with CAD: view
genes like me logo Genes that share phenotypes with CAD: view

Human Phenotype Ontology for CAD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAD gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15890648
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CAD: view

Pathways & Interactions for CAD Gene

genes like me logo Genes that share pathways with CAD: view

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.

SIGNOR curated interactions for CAD Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CAD Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0006520 cellular amino acid metabolic process IEA --
genes like me logo Genes that share ontologies with CAD: view

Drugs & Compounds for CAD Gene

(18) Drugs for CAD Gene - From: DrugBank, HMDB, and Novoseek

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
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(20) Additional Compounds for CAD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbamoyl phosphate
  • Carbamic acid monoanhydride with phosphorate
  • Carbamic acid monoanhydride with phosphoric acid
  • Carbamoyl-P
  • Carbamoyl-phosphate
  • Carbamoylphosphate
590-55-6
4,5-Dihydroorotic acid
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (S)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
155-54-4
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
genes like me logo Genes that share compounds with CAD: view

Transcripts for CAD Gene

Unigene Clusters for CAD Gene

Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAD Gene

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:

Relevant External Links for CAD Gene

GeneLoc Exon Structure for
CAD
ECgene alternative splicing isoforms for
CAD

Expression for CAD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAD Gene

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



Protein tissue co-expression partners for CAD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAD Gene:

CAD

SOURCE GeneReport for Unigene cluster for CAD Gene:

Hs.377010

Evidence 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
Organs:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
Limb:
  • lower limb
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with CAD: view

Primer 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.

Orthologs for CAD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAD 34 35
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CAD 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAD 34 35
  • 90.79 (n)
cow
(Bos Taurus)
Mammalia CAD 34 35
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Cad 34 16 35
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Cad 34
  • 88.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAD 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAD 34 35
  • 75.3 (n)
lizard
(Anolis carolinensis)
Reptilia CAD 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cad 34
  • 74.08 (n)
Str.435 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24787 34
zebrafish
(Danio rerio)
Actinopterygii cad 34 35
  • 70.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta r 36 34 35
  • 63.52 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000300 34
  • 43.16 (n)
worm
(Caenorhabditis elegans)
Secernentea pyr-1 35 34
  • 56.97 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR263C 34
  • 54.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E15357g 34
  • 52.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA2 35 34
  • 52.72 (n)
OneToMany
CPA2 37
bread mold
(Neurospora crassa)
Ascomycetes NCU08287 34
  • 58.79 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ura1 34
  • 52.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4454 35
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9135 34
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)

Evolution for CAD Gene

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

Paralogs for CAD Gene

Paralogs for CAD Gene

(1) SIMAP similar genes for CAD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CAD: view

Variants for CAD Gene

Sequence variations from dbSNP and Humsavar for CAD Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs374122292 A colorectal cancer sample 27,222,553(+) CCCTC(A/G)GATCC reference, missense
rs763410987 Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] 27,242,098(+) GCTCC(A/G)GCACC reference, missense
VAR_035898 A colorectal cancer sample
VAR_078289 Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457]
rs1057519262 Pathogenic 27,226,128(+) CTTCA(C/T)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAD Gene

Variant ID Type Subtype PubMed ID
esv275571 CNV loss 21479260
nsv833603 CNV loss 17160897

Variation tolerance for CAD Gene

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)

Relevant External Links for CAD Gene

Human Gene Mutation Database (HGMD)
CAD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAD Gene

Disorders for CAD Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAD Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iz
  • cad-cdg
- elite association - COSMIC cancer census association via MalaCards
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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CAD

Genetic Association Database (GAD)
CAD
Human Genome Epidemiology (HuGE) Navigator
CAD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAD
genes like me logo Genes that share disorders with CAD: view

No data available for Genatlas for CAD Gene

Publications for CAD Gene

  1. 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. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 22 64
  2. Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD. (PMID: 15890648) Sigoillot F.D. … Guy H.I. (J. Biol. Chem. 2005) 3 4 22 64
  3. Transcriptional repression of human cad gene by hypoxia inducible factor-1alpha. (PMID: 16155188) Chen K.F. … Tsai S.J. (Nucleic Acids Res. 2005) 3 4 22 64
  4. Organization and nucleotide sequence of the 3' end of the human CAD gene. (PMID: 1979741) Davidson J.N. … Chen K.C. (DNA Cell Biol. 1990) 3 4 22 64
  5. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. (PMID: 25678555) Ng B.G. … Freeze H.H. (Hum. Mol. Genet. 2015) 3 4 64

Products for CAD Gene

Sources for CAD Gene

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