ENSG00000084774


Homo sapiens

Features
Gene ID: ENSG00000084774
  
Biological name :CAD
  
Synonyms : CAD / carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase / P27708
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p23.3
Gene start: 27217390
Gene end: 27243943
  
Corresponding Affymetrix probe sets: 1564084_at (Human Genome U133 Plus 2.0 Array)   202715_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384510
Ensembl peptide - ENSP00000405416
Ensembl peptide - ENSP00000414742
Ensembl peptide - ENSP00000264705
Ensembl peptide - ENSP00000388740
NCBI entrez gene - 790     See in Manteia.
OMIM - 114010
RefSeq - XM_006712101
RefSeq - NM_001306079
RefSeq - NM_004341
RefSeq - XM_005264555
RefSeq Peptide - NP_004332
RefSeq Peptide - NP_001293008
swissprot - H7C3Z5
swissprot - P27708
swissprot - H7BZB3
swissprot - H7C2E4
swissprot - F8VPD4
Ensembl - ENSG00000084774
  
Related genetic diseases (OMIM): 616457 - Epileptic encephalopathy, early infantile, 50, 616457
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cadENSDARG00000041895Danio rerio
 CADENSGALG00000016524Gallus gallus
 CadENSMUSG00000013629Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CPS1 / P31327 / carbamoyl-phosphate synthase 1ENSG0000002182634


Protein motifs (from Interpro)
Interpro ID Name
 IPR002082  Aspartate carbamoyltransferase
 IPR002195  Dihydroorotase, conserved site
 IPR002474  Carbamoyl-phosphate synthase small subunit, N-terminal domain
 IPR005479  Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
 IPR005480  Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
 IPR005483  Carbamoyl-phosphate synthase large subunit, CPSase domain
 IPR006130  Aspartate/ornithine carbamoyltransferase
 IPR006131  Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
 IPR006132  Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
 IPR006274  Carbamoyl-phosphate synthase, small subunit
 IPR006275  Carbamoyl-phosphate synthase, large subunit
 IPR006680  Amidohydrolase-related
 IPR011059  Metal-dependent hydrolase, composite domain superfamily
 IPR011607  Methylglyoxal synthase-like domain
 IPR011761  ATP-grasp fold
 IPR013815  ATP-grasp fold, subdomain 1
 IPR016185  Pre-ATP-grasp domain superfamily
 IPR017926  Glutamine amidotransferase
 IPR029062  Class I glutamine amidotransferase-like
 IPR032466  Metal-dependent hydrolase
 IPR035686  Carbamoyl-phosphate synthase small subunit, GATase1 domain
 IPR036480  Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily
 IPR036897  Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily
 IPR036901  Aspartate/ornithine carbamoyltransferase superfamily
 IPR036914  Methylglyoxal synthase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000050 urea cycle IBA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006207 "de novo" pyrimidine nucleobase biosynthetic process IEA
 biological_processGO:0006221 pyrimidine nucleotide biosynthetic process IEA
 biological_processGO:0006228 UTP biosynthetic process IEA
 biological_processGO:0006520 cellular amino acid metabolic process IEA
 biological_processGO:0006526 arginine biosynthetic process IBA
 biological_processGO:0006541 glutamine metabolic process IEA
 biological_processGO:0006807 nitrogen compound metabolic process IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0014075 response to amine IEA
 biological_processGO:0017144 drug metabolic process IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation ISS
 biological_processGO:0019240 citrulline biosynthetic process IEA
 biological_processGO:0031000 response to caffeine IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0044205 "de novo" UMP biosynthetic process IEA
 biological_processGO:0046134 pyrimidine nucleoside biosynthetic process TAS
 biological_processGO:0046777 protein autophosphorylation ISS
 biological_processGO:0051414 response to cortisol IEA
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016363 nuclear matrix IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004070 aspartate carbamoyltransferase activity IEA
 molecular_functionGO:0004087 carbamoyl-phosphate synthase (ammonia) activity IBA
 molecular_functionGO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IEA
 molecular_functionGO:0004151 dihydroorotase activity TAS
 molecular_functionGO:0004672 protein kinase activity ISS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016597 amino acid binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016743 carboxyl- or carbamoyltransferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA
 molecular_functionGO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070335 aspartate binding ISS


Pathways (from Reactome)
Pathway description
Pyrimidine biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001903 Anemia 
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 HP:0001927 Red cell acanthocytosis "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators]
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 HP:0001947 Renal tubular acidosis 
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 HP:0001981 Schistocytes 
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 HP:0001987 Hyperammonemia 
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 HP:0002133 Status epilepticus 
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 HP:0002136 Broad-based gait "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators]
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 HP:0002376 Developmental regression 
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 HP:0002465 Poor speech 
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 HP:0003593 Early onset 
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 HP:0003676 Progressive disorder 
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 HP:0004823 anisopoikilocytosis 
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000084774 CAD / P27708 / carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase  / complex






 

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