Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CPS1 (carbamoyl-phosphate synthase 1)

Identity

Alias_namescarbamoyl-phosphate synthetase 1, mitochondrial
carbamoyl-phosphate synthase 1, mitochondrial
Other aliasCPSASE1
PHN
HGNC (Hugo) CPS1
LocusID (NCBI) 1373
Atlas_Id 49721
Location 2q34  [Link to chromosome band 2q34]
Location_base_pair Starts at 211342406 and ends at 211543831 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CPS1 (2q34) / IFNGR1 (6q23.3)CPS1 (2q34) / PRDX3 (10q26.11)ZC3H15 (2q32.1) / CPS1 (2q34)
ZC3H15 2q32.1 / CPS1 2q34

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CPS1   2323
LRG (Locus Reference Genomic)LRG_336
Cards
Entrez_Gene (NCBI)CPS1  1373  carbamoyl-phosphate synthase 1
AliasesCPSASE1; PHN
GeneCards (Weizmann)CPS1
Ensembl hg19 (Hinxton)ENSG00000021826 [Gene_View]  chr2:211342406-211543831 [Contig_View]  CPS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000021826 [Gene_View]  chr2:211342406-211543831 [Contig_View]  CPS1 [Vega]
ICGC DataPortalENSG00000021826
TCGA cBioPortalCPS1
AceView (NCBI)CPS1
Genatlas (Paris)CPS1
WikiGenes1373
SOURCE (Princeton)CPS1
Genetics Home Reference (NIH)CPS1
Genomic and cartography
GoldenPath hg19 (UCSC)CPS1  -     chr2:211342406-211543831 +  2q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CPS1  -     2q34   [Description]    (hg38-Dec_2013)
EnsemblCPS1 - 2q34 [CytoView hg19]  CPS1 - 2q34 [CytoView hg38]
Mapping of homologs : NCBICPS1 [Mapview hg19]  CPS1 [Mapview hg38]
OMIM237300   608307   615371   
Gene and transcription
Genbank (Entrez)AB180933 AB180934 AB180935 AB180936 AB180937
RefSeq transcript (Entrez)NM_001122633 NM_001122634 NM_001875
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008285 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)CPS1
Cluster EST : UnigeneHs.149252 [ NCBI ]
CGAP (NCI)Hs.149252
Alternative Splicing GalleryENSG00000021826
Gene ExpressionCPS1 [ NCBI-GEO ]   CPS1 [ EBI - ARRAY_EXPRESS ]   CPS1 [ SEEK ]   CPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)CPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1373
GTEX Portal (Tissue expression)CPS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31327   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31327  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31327
Splice isoforms : SwissVarP31327
PhosPhoSitePlusP31327
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    CPSASE_1 (PS00866)    CPSASE_2 (PS00867)    GATASE_TYPE_1 (PS51273)   
Domains : Interpro (EBI)ATP-grasp    ATP_grasp_subdomain_1    ATP_grasp_subdomain_2    CarbamoylP_synth_lsu    CarbamoylP_synth_lsu_oligo    CarbamoylP_synth_ssu    CarbamoylP_synth_ssu_N    CbamoylP_synth_lsu-like_ATP-bd    CbamoylP_synth_lsu_CPSase_dom    Class_I_gatase-like    GATASE    MGS-like_dom    PreATP-grasp_dom   
Domain families : Pfam (Sanger)CPSase_L_D2 (PF02786)    CPSase_L_D3 (PF02787)    CPSase_sm_chain (PF00988)    GATase (PF00117)    MGS (PF02142)   
Domain families : Pfam (NCBI)pfam02786    pfam02787    pfam00988    pfam00117    pfam02142   
Domain families : Smart (EMBL)CPSase_L_D3 (SM01096)  CPSase_sm_chain (SM01097)  MGS (SM00851)  
Conserved Domain (NCBI)CPS1
DMDM Disease mutations1373
Blocks (Seattle)CPS1
PDB (SRS)2YVQ    5DOT    5DOU   
PDB (PDBSum)2YVQ    5DOT    5DOU   
PDB (IMB)2YVQ    5DOT    5DOU   
PDB (RSDB)2YVQ    5DOT    5DOU   
Structural Biology KnowledgeBase2YVQ    5DOT    5DOU   
SCOP (Structural Classification of Proteins)2YVQ    5DOT    5DOU   
CATH (Classification of proteins structures)2YVQ    5DOT    5DOU   
SuperfamilyP31327
Human Protein AtlasENSG00000021826
Peptide AtlasP31327
HPRD01995
IPIIPI00011062   IPI00397498   IPI01014091   IPI00967404   IPI01015455   IPI00926199   IPI00889534   
Protein Interaction databases
DIP (DOE-UCLA)P31327
IntAct (EBI)P31327
FunCoupENSG00000021826
BioGRIDCPS1
STRING (EMBL)CPS1
ZODIACCPS1
Ontologies - Pathways
QuickGOP31327
Ontology : AmiGOurea cycle  urea cycle  urea cycle  aspartate carbamoyltransferase activity  carbamoyl-phosphate synthase (ammonia) activity  carbamoyl-phosphate synthase (ammonia) activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  dihydroorotase activity  endopeptidase activity  calcium ion binding  protein binding  ATP binding  phospholipid binding  nucleolus  mitochondrial inner membrane  mitochondrial matrix  glycogen catabolic process  'de novo' pyrimidine nucleobase biosynthetic process  proteolysis  arginine biosynthetic process  glutamine metabolic process  midgut development  response to toxic substance  response to zinc ion  response to amine  glutamate binding  citrulline biosynthetic process  triglyceride catabolic process  response to food  protein complex binding  response to lipopolysaccharide  response to drug  response to starvation  mitochondrial nucleoid  response to amino acid  protein complex  cellular response to fibroblast growth factor stimulus  positive regulation of vasodilation  nitric oxide metabolic process  homocysteine metabolic process  anion homeostasis  response to growth hormone  hepatocyte differentiation  carbamoyl phosphate biosynthetic process  cellular response to cAMP  cellular response to glucagon stimulus  cellular response to oleic acid  response to dexamethasone  modified amino acid binding  
Ontology : EGO-EBIurea cycle  urea cycle  urea cycle  aspartate carbamoyltransferase activity  carbamoyl-phosphate synthase (ammonia) activity  carbamoyl-phosphate synthase (ammonia) activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  dihydroorotase activity  endopeptidase activity  calcium ion binding  protein binding  ATP binding  phospholipid binding  nucleolus  mitochondrial inner membrane  mitochondrial matrix  glycogen catabolic process  'de novo' pyrimidine nucleobase biosynthetic process  proteolysis  arginine biosynthetic process  glutamine metabolic process  midgut development  response to toxic substance  response to zinc ion  response to amine  glutamate binding  citrulline biosynthetic process  triglyceride catabolic process  response to food  protein complex binding  response to lipopolysaccharide  response to drug  response to starvation  mitochondrial nucleoid  response to amino acid  protein complex  cellular response to fibroblast growth factor stimulus  positive regulation of vasodilation  nitric oxide metabolic process  homocysteine metabolic process  anion homeostasis  response to growth hormone  hepatocyte differentiation  carbamoyl phosphate biosynthetic process  cellular response to cAMP  cellular response to glucagon stimulus  cellular response to oleic acid  response to dexamethasone  modified amino acid binding  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Arginine and proline metabolism    Nitrogen metabolism   
NDEx NetworkCPS1
Atlas of Cancer Signalling NetworkCPS1
Wikipedia pathwaysCPS1
Orthology - Evolution
OrthoDB1373
GeneTree (enSembl)ENSG00000021826
Phylogenetic Trees/Animal Genes : TreeFamCPS1
HOVERGENP31327
HOGENOMP31327
Homologs : HomoloGeneCPS1
Homology/Alignments : Family Browser (UCSC)CPS1
Gene fusions - Rearrangements
Fusion : MitelmanZC3H15/CPS1 [2q32.1/2q34]  [t(2;2)(q32;q34)]  
Fusion: TCGAZC3H15 2q32.1 CPS1 2q34 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPS1
dbVarCPS1
ClinVarCPS1
1000_GenomesCPS1 
Exome Variant ServerCPS1
ExAC (Exome Aggregation Consortium)CPS1 (select the gene name)
Genetic variants : HAPMAP1373
Genomic Variants (DGV)CPS1 [DGVbeta]
DECIPHER (Syndromes)2:211342406-211543831  ENSG00000021826
CONAN: Copy Number AnalysisCPS1 
Mutations
ICGC Data PortalCPS1 
TCGA Data PortalCPS1 
Broad Tumor PortalCPS1
OASIS PortalCPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCPS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CPS1
DgiDB (Drug Gene Interaction Database)CPS1
DoCM (Curated mutations)CPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPS1 (select a term)
intoGenCPS1
Cancer3DCPS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM237300    608307    615371   
Orphanet461   
MedgenCPS1
Genetic Testing Registry CPS1
NextProtP31327 [Medical]
TSGene1373
GENETestsCPS1
Huge Navigator CPS1 [HugePedia]
snp3D : Map Gene to Disease1373
BioCentury BCIQCPS1
ClinGenCPS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1373
Chemical/Pharm GKB GenePA26840
Clinical trialCPS1
Miscellaneous
canSAR (ICR)CPS1 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPS1
EVEXCPS1
GoPubMedCPS1
iHOPCPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:01:35 CET 2017

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