Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CPS1 Gene

protein-coding   GIFtS: 66
GCID: GC02P211342

Carbamoyl-Phosphate Synthase 1, Mitochondrial

(Previous names: carbamoyl-phosphate synthetase 1, mitochondrial)
  See CPS1-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

TryGeneCards Plus

Aliases
Carbamoyl-Phosphate Synthase 1, Mitochondrial1 2     Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial2
EC 6.3.4.163 8     Carbamoylphosphate Synthetase I2
PHN2 5     Carbamoyl-Phosphate Synthetase I3
Carbamoyl-Phosphate Synthetase 1, Mitochondrial1     CPSase I3
CPSASE12     

External Ids:    HGNC: 23231   Entrez Gene: 13732   Ensembl: ENSG000000218267   OMIM: 6083075   UniProtKB: P313273   

Export aliases for CPS1 gene to outside databases

Previous GC identifers: GC02P209696 GC02P210145 GC02P211385 GC02P211623 GC02P211246 GC02P211050 GC02P211129 GC02P203189


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

TryGeneCards Plus

Entrez Gene summary for CPS1 Gene:
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and
bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of
excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three
transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be
localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase
deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease
after bone marrow transplantation.(provided by RefSeq, May 2010)

GeneCards Summary for CPS1 Gene:
CPS1 (carbamoyl-phosphate synthase 1, mitochondrial) is a protein-coding gene. Diseases associated with CPS1 include venoocclusive disease after bone marrow transplantation, and pulmonary hypertension, neonatal. GO annotations related to this gene include protein complex binding and calcium ion binding. An important paralog of this gene is CAD.

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327
Function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing
excess ammonia from the cell




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPS1 gene promoter:
         HFH-3   AP-1   HTF   C/EBPalpha   CHOP-10   FOXI1   Pax-3   MRF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CPS1 promoter sequence
   Search Chromatin IP Primers for CPS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2p

CPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P211342:  view genomic region     (about GC identifiers)

Start:
211,342,406 bp from pter      End:
211,543,831 bp from pter
Size:
201,426 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327 (See protein sequence)
Recommended Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial precursor  
Size: 1500 amino acids; 164939 Da
Sequence caution: Sequence=BAD92037.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for CPS1:
2YVQ (3D)    
Secondary accessions: B7Z818 J3KQL0 O43774 Q53TL5 Q59HF8 Q7Z5I5
Alternative splicing: 3 isoforms:  P31327-1   P31327-2   P31327-3   (Ref.11 (BAD92037) sequence is in conflict in position: 5:I->IF)

Explore the universe of human proteins at neXtProt for CPS1: NX_P31327

Explore proteomics data for CPS1 at MOPED

Post-translational modifications: 

  • Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPS1 (P31327) (see all 28)
     NEGIMHE  FNTGLGGY  KGYSFGHP  AQAPWKAVN 


    See CPS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116105.1  NP_001116106.1  NP_001866.2  

    ENSEMBL proteins: 
     ENSP00000388496   ENSP00000430697   ENSP00000430644   ENSP00000402608   ENSP00000233072  
     ENSP00000406136  
    Reactome Protein details: P31327

    CPS1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CPS1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CPS1
    GenScript Custom Purified and Recombinant Proteins Services for CPS1
    Novus Biologicals CPS1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CPS1

     
    Search eBioscience for Proteins for CPS1 

    CPS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CPS1
    OriGene Custom Antibody Services for CPS1
    Novus Biologicals CPS1 Antibodies
    Abcam antibodies for CPS1
    Cloud-Clone Corp. Antibodies for CPS1
    Search ThermoFisher Antibodies for CPS1
    LSBio Antibodies in human, mouse, rat for CPS1

    CPS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CPS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CPS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CPS1
    Cloud-Clone Corp. CLIAs for CPS1
    Search eBioscience for ELISAs for CPS1 


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 13):
     IPR005481 CarbamoylP_synth_lsu_N
     IPR016185 PreATP-grasp_dom
     IPR011761 ATP-grasp
     IPR006275 CarbamoylP_synth_lsu
     IPR005483 CbamoylP_synth_lsu_CPSase_dom

    Graphical View of Domain Structure for InterPro Entry P31327

    ProtoNet protein and cluster: P31327

    5 Blocks protein domains:
    IPB000991 Glutamine amidotransferase class-I
    IPB001317 Carbamoyl-phosphate synthase protein GATase domain signature
    IPB002474 Carbamoyl-phosphate synthase
    IPB005480 Carbamoyl-phosphate synthetase large chain
    IPB011607 MGS-like


    UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327
    Domain: The type-1 glutamine amidotransferase domain is defective
    Similarity: Contains 2 ATP-grasp domains
    Similarity: Contains 1 glutamine amidotransferase type-1 domain


    Find genes that share domains with CPS1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CPSM_HUMAN, P31327
    Function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing
    excess ammonia from the cell
    Catalytic activity: 2 ATP + NH(3) + CO(2) + H(2)O = 2 ADP + phosphate + carbamoyl phosphate
    Enzyme regulation: Requires N-acetyl-L-glutamate (NAG) as an allosteric activator

         Genatlas biochemistry entry for CPS1:
    carbamoyl phosphate synthetase 1,mitochondrial,urea cycle

         Enzyme Number (IUBMB): EC 6.3.4.161 2

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004087carbamoyl-phosphate synthase (ammonia) activity IMP8486760
    GO:0004175endopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12620389
         
    Find genes that share ontologies with CPS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CPS1:
     Decreased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cps1):
     homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with CPS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cps1tm1Mw for CPS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CPS1:
    hsa-mir-17-5p (MIRT051022)

    Block miRNA regulation of human, mouse, rat CPS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPS1 (see all 13):
    hsa-miR-16-2* hsa-miR-3136-5p hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-134 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidCPS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CPS1
    Predesigned siRNA for gene silencing in human, mouse, rat CPS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CPS1

    Clone
    Products:
         
    OriGene clones in human, mouse for CPS1 (see all 16)
    OriGene ORF clones in mouse, rat for CPS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CPS1 (NM_001122634)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPS1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CPS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CPS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CPSM_HUMAN, P31327: Mitochondrion. Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2
    endoplasmic reticulum2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with CPS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CPS1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    superpathway of citrulline metabolism0.00
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    urea cycle0.00
    Urea cycle0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5Nitrogen metabolism
    Nitrogen metabolism


    Find genes that share SuperPaths with CPS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CPS1
        Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism
    urea cycle

    1 Reactome Pathway for CPS1
        Urea cycle


    Selected Kegg Pathways  (Kegg details for CPS1) (see all 6):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Nitrogen metabolism
    Metabolic pathways
    Carbon metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPS1: 
              Hypertension in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CPS1

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

    Selected Interacting proteins for CPS1 (P313271, 2, 3 ENSP000004026084) via UniProtKB, MINT, STRING, and/or I2D (see all 175)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631041, 2, 3, ENSP000003095034EBI-536811,EBI-347088 MINT-3296376 MINT-7900157 I2D: score=1 STRING: ENSP00000309503
    ARAFP103981, 3, ENSP000003662444EBI-536811,EBI-365961 I2D: score=3 STRING: ENSP00000366244
    RAF1P040491, 3, ENSP000002518494EBI-536811,EBI-365996 I2D: score=3 STRING: ENSP00000251849
    YWHAQP273482, 3, ENSP000002380814MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0001101response to acid ----
    GO:0001889liver development ----
    GO:0005980glycogen catabolic process IMP9711878
    GO:0006543glutamine catabolic process IEA--

    Find genes that share ontologies with CPS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for CPS1 (CPSM)

    9 HMDB Compounds for CPS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    N-Acetyl-L-alanine(S)-(-)-N-Acetylalanine (see all 8)97-69-8--
    N-Acetylglutamic acid2-acetamido-L-Glutaraldehydate (see all 23)1188-37-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for CPS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Carglumic Acid(S)-2-ureidopentanedioic acid (see all 4)1188-38-1targetallosteric modulator21207059 18516804 19106093

    Selected Novoseek inferred chemical compound relationships for CPS1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carbamoyl phosphate 97.1 98 7744060 (5), 8382576 (5), 14718356 (4), 7567968 (3) (see all 54)
    n-acetylglutamate 88.5 9 2318203 (2), 8663466 (2), 19754428 (1), 18666241 (1) (see all 6)
    cpsi 88.2 5 15617192 (1), 17188582 (1), 19754428 (1), 15876373 (1)
    urea 70.7 33 10917911 (4), 18666241 (2), 16824661 (1), 19272383 (1) (see all 18)
    ornithine 68.2 9 9313001 (1), 11388595 (1), 17140418 (1), 20004862 (1) (see all 7)
    citrulline 59.5 7 15216554 (1), 10917911 (1), 20520828 (1), 9862865 (1)
    arginine 41.8 6 20520828 (3), 17597649 (1), 9862865 (1)
    glutamine 39.5 3 9527969 (1), 9862865 (1), 12198645 (1)
    carbamate 39.3 1 7744060 (1)
    pyrimidine 26.2 1 9527969 (1)

    4 PharmGKB related drug/compound annotations for CPS1 gene    About this table
    Drug/compound PharmGKB Annotation
    carglumic acid
    phenylacetic acid
    sodium benzoate
    sodium phenylbutyrate



    Find genes that share compounds with CPS1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CPS1 gene (3 alternative transcripts): 
    NM_001122633.2  NM_001122634.2  NM_001875.4  

    Unigene Cluster for CPS1:

    Carbamoyl-phosphate synthase 1, mitochondrial
    Hs.149252  [show with all ESTs]
    Unigene Representative Sequence: NM_001875
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417946 ENST00000518043 ENST00000523702 ENST00000430249(uc010fur.3)
    ENST00000233072(uc002vee.4) ENST00000497163 ENST00000451903(uc010fus.3)
    ENST00000467353 ENST00000497121 ENST00000470791 ENST00000479988
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CPS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPS1 (see all 13):
    hsa-miR-16-2* hsa-miR-3136-5p hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-134 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidCPS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CPS1
    Predesigned siRNA for gene silencing in human, mouse, rat CPS1
    Clone
    Products:
         
    OriGene clones in human, mouse for CPS1 (see all 16)
    OriGene ORF clones in mouse, rat for CPS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CPS1 (NM_001122634)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPS1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CPS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPS1
      QuantiTect SYBR Green Assays in human, mouse, rat CPS1
      QuantiFast Probe-based Assays in human, mouse, rat CPS1

    Additional mRNA sequence: 

    AB180933.1 AB180934.1 AB180935.1 AB180936.1 AB180937.1 AB180938.1 AB208800.1 AF154830.1 
    AK289749.1 AK302778.1 AK316425.1 AY317138.1 BC020695.1 BC058010.1 BC140943.1 BX537776.1 
    BX640601.1 D90282.1 Y15793.1 

    13 DOTS entries:

    DT.217599  DT.91696438  DT.91756394  DT.101981079  DT.95202079  DT.95202080  DT.97770501  DT.102830385 
    DT.100797996  DT.91672972  DT.100797998  DT.87010958  DT.95268415 

    Selected AceView cDNA sequences (see all 225):

    BM821786 CB162657 W78954 BC020695 AI207429 CB164088 BQ011006 AA333887 
    AL046242 H71844 AI174790 CB157469 BG563090 BX506125 R07641 Y15793 
    AA393420 BX480837 H56078 AL046241 H73404 N69366 CB156042 D90282 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTTGTGT
    CPS1 Expression
    About this image


    CPS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Periportal Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
     
     Lung (Respiratory System)
    CPS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149252

    UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327
    Tissue specificity: Primarily in the liver and small intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPS1: 
              Hypertension in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CPS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPS1
    QuantiTect SYBR Green Assays in human, mouse, rat CPS1
    QuantiFast Probe-based Assays in human, mouse, rat CPS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPS1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CPS1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cps11 , 5 carbamoyl-phosphate synthetase 11, 5 89.24(n)1
    95.33(a)1
      1 (33.75 cM)5
    2272311  NM_001080809.21  NP_001074278.11 
     671230265 
    chicken
    (Gallus gallus)
    Aves CPS11 carbamoyl-phosphate synthase 1, mitochondrial 76.59(n)
    81.04(a)
      428994  NM_001045841.1  NP_001039306.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPS16
    carbamoyl-phosphate synthase 1, mitochondrial
    79(a)
    1 ↔ 1
    1(113616223-113784982)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.245432 Xenopus laevis transcribed sequence with moderate similarity more 76.02(n)    CB198969.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cps11 carbamoyl-phosphate synthase 1, mitochondrial 69.41(n)
    72.81(a)
      555623  XM_678190.5  XP_683282.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA26
    Bifunctional carbamoylphosphate synthetase (CPSase...
    34(a)
    1 → many
    X(165723-172367) YJL130C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CARB1 CARB 49.03(n)
    40.55(a)
      839868  NM_102730.1  NP_564338.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05707001 Os01g0570700 45.19(n)
    30.54(a)
      4326346  NM_001049908.1  NP_001043373.1 


    ENSEMBL Gene Tree for CPS1 (if available)
    TreeFam Gene Tree for CPS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CPS1 gene
    CAD2  
    1 SIMAP similar gene for CPS1 using alignment to 10 protein entries:     CPSM_HUMAN (see all proteins):
    CAD

    Find genes that share paralogs with CPS1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CPS1 (see all 4088)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289402831,2,,4
    CCarbamoyl phosphate synthetase 1 deficiency (CPS1D)4 pathogenic1210844847(+) GAATCA/GTGGCT 5 H R mis1 us2k1 ese30--------
    rs1426937041,2,,4
    CCarbamoyl phosphate synthetase 1 deficiency (CPS1D)4 --210858137(+) GAGATG/TCTGAT 6 A S mis10--------
    rs1470629071,2,,4
    CCarbamoyl phosphate synthetase 1 deficiency (CPS1D)4 --210869431(+) TTGACA/GAGTGG 6 K E mis10--------
    rs1413732041,2,,4
    C,FCarbamoyl phosphate synthetase 1 deficiency (CPS1D)4 --210909563(+) AAACCA/GTCAGC 6 I V mis12Minor allele frequency- G:0.00NA EU 5875
    VAR_0661904
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0661902 A T mis40--------
    VAR_0635694
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0635692 R C mis40--------
    VAR_0175634
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0175632 Q R mis40--------
    VAR_0661084
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0661082 R Q mis40--------
    VAR_0635724
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0635722 V G mis40--------
    VAR_0635704
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D)4--see VAR_0635702 G D mis40--------

    HapMap Linkage Disequilibrium report for CPS1 (211342406 - 211543831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CPS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674073CNV Deletion23128226
    nsv821631CNV Loss15273396

    Human Gene Mutation Database (HGMD): CPS1
    Locus Specific Mutation Databases (LSDB): CPS1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for CPS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608307   
    OMIM disorders: 237300  615371  
    UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327
  • Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: An autosomal recessive disorder of the
    urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe
    hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening
    hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent
    ataxia, seizures, lethargy, developmental delay and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Pulmonary hypertension, neonatal (PHN) [MIM:615371]: A disease characterized by elevated pulmonary artery
    pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as
    respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary
    dysplasia, sepsis, or congenital heart disease. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry. CPS1 variants influence the availability of precursors for nitric
    oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically
    important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair
    of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with
    neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates
    homozygous for Asn-1406 (PubMed:11407344)

  • 6 diseases for CPS1:    
    About MalaCards
    venoocclusive disease after bone marrow transplantation    pulmonary hypertension, neonatal    carbamoyl phosphate synthetase i deficiency disease    small intestine adenocarcinoma
    ornithine carbamoyltransferase deficiency    hypertension

    3 diseases from the University of Copenhagen DISEASES database for CPS1:
    Carbamoyl phosphate synthetase I deficiency disease     Ornithine carbamoyltransferase deficiency     Small intestine adenocarcinoma

    Find genes that share disorders with CPS1           About GenesLikeMe

    4 Novoseek inferred disease relationships for CPS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperammonemia 82.7 14 9862865 (2), 19272383 (1), 19793055 (1), 15876373 (1) (see all 8)
    ornithine transcarbamylase deficiency 70.6 2 11388595 (1), 20004862 (1)
    metabolic disorder 14.4 3 12080609 (1), 9711878 (1)
    hepatitis 0.289 1 8821709 (1)

    Genatlas disease: CPS1
    neonatal distress and hyperammonemia

    Genetic Association Database (GAD): CPS1
    Human Genome Epidemiology (HuGE) Navigator: CPS1 (90 documents)
    Tumor Gene Database (TGDB): CPS1

    Export disorders for CPS1 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

    TryGeneCards Plus

    PubMed articles for CPS1 gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with CPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants. (PubMed id 20520828)1, 2, 4, 9 Moonen R.M....Villamor E. (PLoS ONE 2010)
    2. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. (PubMed id 9711878)1, 2, 9 Finckh U....Gal A. (Hum. Mutat. 1998)
    3. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. (PubMed id 12955727)1, 2, 9 Funghini S.... Morrone A. (Hum. Mutat. 2003)
    4. Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. (PubMed id 14718356)1, 4, 9 Summar M.L....Brown N.J. (Hypertension 2004)
    5. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. (PubMed id 11474210)1, 2, 9 Aoshima T.... Niwa T. (Hum. Hered. 2001)
    6. Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. (PubMed id 17597649)1, 4, 9 Moonen R.M....Villamor E. (Pediatr. Res. 2007)
    7. Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. (PubMed id 15617192)1, 2, 9 Wakutani Y.... Nakashima K. (J. Inherit. Metab. Dis. 2004)
    8. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. (PubMed id 12655559)1, 2, 9 Haeberle J.... Koch H.G. (Hum. Mutat. 2003)
    9. Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. (PubMed id 19754428)1, 2, 9 Pekkala S.... Cervera J. (Biochem. J. 2009)
    10. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. (PubMed id 17188582)1, 4, 9 Canter J.A....Barr F.E. (Mitochondrion 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1373 HGNC: 2323 AceView: CPS1 Ensembl:ENSG00000021826 euGenes: HUgn1373
    ECgene: CPS1 Kegg: 1373 H-InvDB: CPS1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CPS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CPS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CPS1 gene:
    Search GeneIP for patents involving CPS1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CPS1   OriGene RNAi products in human, mouse, rat for CPS1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CPS1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CPS1  
     OriGene qSTAR qPCR primer pairs in human, mouse for CPS1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CPS1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CPS1   OriGene Custom Protein Services for CPS1  

     
     
     Block miRNA regulation of human, mouse, rat CPS1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CPS1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPS1 Predesigned siRNA for gene silencing in human, mouse, rat CPS1
     QuantiFast Probe-based Assays in human, mouse, rat CPS1 QuantiTect SYBR Green Assays in human, mouse, rat CPS1
     PCR Arrays including human, mouse, rat CPS1 Search Chromatin IP Primers for CPS1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPS1  Search GeneGlobe Interaction Network for CPS1
     Regulatory tfbs in CPS1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CPS1 GenScript cDNA clones with any tag delivered in your preferred vector for CPS1
     GenScript Custom Assay Services for CPS1 GenScript Custom overexpressing Cell Line Services for CPS1
     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 Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CPS1 (CPSM)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CPS1 antibodies
     CPS1 proteins
     Antibodies for CPS1
     See all of Abcam's Antibodies, Kits and Proteins for CPS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CPS1
     Antibodies for CPS1
     ELISAs for CPS1
     CLIAs for CPS1



     Browse ESI BIO Cell Lines and PureStem Progenitors for CPS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPS1
     SwitchGear 3'UTR luciferase reporter plasmids for CPS1
     SwitchGear Promoter luciferase reporter plasmids for CPS1
     Search ThermoFisher Antibodies for CPS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPS1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPS1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPS1
     LSBio Antibodies in human, mouse, rat for CPS1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CPS1
      Search eBioscience for proteins for CPS1
      Search eBioscience for elisas for CPS1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CPS1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4