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PC Gene

protein-coding   GIFtS: 71
GCID: GC11M066615

Pyruvate Carboxylase

  See PC-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)
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Aliases
Pyruvate Carboxylase1 2
Pyruvic Carboxylase2 3
PCB2 3
EC 6.4.1.13 8
Pyruvate Carboxylase, Mitochondrial2
EC 6.4.18

External Ids:    HGNC: 86361   Entrez Gene: 50912   Ensembl: ENSG000001735997   OMIM: 6087865   UniProtKB: P114983   

Export aliases for PC gene to outside databases

Previous GC identifers: GC11M069150 GC11M068297 GC11M066865 GC11M066391 GC11M066372 GC11M062945


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PC Gene:
This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to
oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the
mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and
synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate
carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same
protein, have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PC Gene:
PC (pyruvate carboxylase) is a protein-coding gene. Diseases associated with PC include pyruvate carboxylase deficiency, benign type, and pyruvate carboxylase deficiency disease. GO annotations related to this gene include biotin carboxylase activity and pyruvate carboxylase activity.

UniProtKB/Swiss-Prot: PYC_HUMAN, P11498
Function: Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the
covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second.
Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose
tissue, liver, brain) synthesis from pyruvate




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PC gene promoter:
         STAT1   p53   NF-kappaB   PPAR-gamma1   STAT3   PPAR-gamma2   NF-kappaB1   ATF   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 11q13.4-q13.5   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.4-q13.5

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M066615:  view genomic region     (about GC identifiers)

Start:
66,615,704 bp from pter      End:
66,725,847 bp from pter
Size:
110,144 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PYC_HUMAN, P11498 (See protein sequence)
Recommended Name: Pyruvate carboxylase, mitochondrial precursor  
Size: 1178 amino acids; 129634 Da
Cofactor: Biotin
Cofactor: Binds 1 manganese ion per subunit
Subunit: Homotetramer
2 PDB 3D structures from and Proteopedia for PC:
3BG3 (3D)        3BG9 (3D)    
Secondary accessions: Q16705

Explore the universe of human proteins at neXtProt for PC: NX_P11498

Explore proteomics data for PC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PC (P11498) (see all 22)
     IGAPMPG  NRAQKLL  RVTTEDP  ISPHYDS 


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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000911.2  NP_001035806.1  NP_071504.2  

    ENSEMBL proteins: 
     ENSP00000435905   ENSP00000377527   ENSP00000377530   ENSP00000434192   ENSP00000377532  
     ENSP00000347900  
    Reactome Protein details: P11498

    PC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for PC
    OriGene Protein Over-expression Lysate for PC
    OriGene MassSpec for PC
    OriGene Custom Protein Services for PC
    GenScript Custom Purified and Recombinant Proteins Services for PC
    Novus Biologicals PC Protein
    Novus Biologicals PC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PC

     
    Search eBioscience for Proteins for PC 

     
    Search antibodies-online for proteins for PC 

     
    antibodies-online peptides for PC

    PC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PC
    Browse R&D Systems for Antibodies
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    Novus Biologicals PC Antibodies
    Abcam antibodies for PC
    Cloud-Clone Corp. Antibodies for PC
    ThermoFisher Antibody for PC
    LSBio Antibodies in human, mouse, rat for PC
    antibodies-online antibodies for PC (38 products) 

    PC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PC
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PC
    Cloud-Clone Corp. CLIAs for PC
    Search eBioscience for ELISAs for PC 
    antibodies-online kits for PC (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Pyruvate carboxylase
    Carboxylases

    Selected InterPro protein domains (see all 17):
     IPR013785 Aldolase_TIM
     IPR000089 Biotin_lipoyl
     IPR005481 CarbamoylP_synth_lsu_N
     IPR005930 Pyruv_COase
     IPR000891 PYR_CT

    Graphical View of Domain Structure for InterPro Entry P11498

    ProtoNet protein and cluster: P11498

    2 Blocks protein domains:
    IPB001882 Biotin-requiring enzyme
    IPB003379 Conserved carboxylase region


    UniProtKB/Swiss-Prot: PYC_HUMAN, P11498
    Similarity: Contains 1 ATP-grasp domain
    Similarity: Contains 1 biotin carboxylation domain
    Similarity: Contains 1 biotinyl-binding domain
    Similarity: Contains 1 carboxyltransferase domain


    Find genes that share domains with PC           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYC_HUMAN, P11498
    Function: Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the
    covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second.
    Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose
    tissue, liver, brain) synthesis from pyruvate
    Catalytic activity: ATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate

         Genatlas biochemistry entry for PC:
    pyruvate carboxylase,biotin dependent,mitochondrial conversion of pyruvate to oxalocetate,branched chain,valine
    catabolism,gluconeogenesis,energy pathway

         Enzyme Numbers (IUBMB): EC 6.4.1.11 2 EC 6.4.12

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003824catalytic activity ----
    GO:0004075biotin carboxylase activity IEA--
    GO:0004736pyruvate carboxylase activity TAS--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with PC           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PC:
     Increased Salmonella enterica  

         1 MGI phenotypic allele for Pcx (no phenotypes)

    Find genes that share phenotypes with PC           About GenesLikeMe

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PC:
    hsa-mir-125a-5p (MIRT045724), hsa-mir-335-5p (MIRT017539)

    Block miRNA regulation of human, mouse, rat PC using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate PC:
    hsa-miR-31 hsa-miR-182 hsa-miR-143 hsa-miR-1271 hsa-miR-1267 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidPC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PC
    Predesigned siRNA for gene silencing in human, mouse, rat PC

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

    Clone
    Products:
         
    OriGene clones in human, mouse for PC (see all 20)
    OriGene ORF clones in mouse, rat for PC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PC (NM_001127510)
    Sino Biological Human cDNA Clone for PC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PC

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PYC_HUMAN, P11498: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with PC           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).
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    SuperPaths for PC About   (see all 11)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    gluconeogenesis0.39
    Glycolysis and Gluconeogenesis0.60
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    4Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    5Carbon metabolism
    Biosynthesis of amino acids0.38
    Carbon metabolism0.38


    Find genes that share SuperPaths with PC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PC
        Glycolysis and gluconeogenesis (short map)

    4 BioSystems Pathways for PC
        Alanine and aspartate metabolism
    Glycolysis and Gluconeogenesis
    gluconeogenesis
    Fatty Acid Biosynthesis


    3 Reactome Pathways for PC
        Gluconeogenesis
    Defective HLCS causes multiple carboxylase deficiency
    Biotin transport and metabolism


    5 Kegg Pathways  (Kegg details for PC):
        Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: PYC_HUMAN, P11498
    Pathway: Carbohydrate biosynthesis; gluconeogenesis

        Pathway & Disease-focused RT2 Profiler PCR Array including PC: 

              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PC

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

    Selected Interacting proteins for PC (P114983 ENSP000003775274) via UniProtKB, MINT, STRING, and/or I2D (see all 176)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=3 STRING: ENSP00000272298
    CALM3P621583, ENSP000002912954I2D: score=3 STRING: ENSP00000291295
    ACACBO007633, ENSP000003670794I2D: score=2 STRING: ENSP00000367079
    ASLP044243, ENSP000003071884I2D: score=2 STRING: ENSP00000307188
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006090pyruvate metabolic process IEA--
    GO:0006094gluconeogenesis TAS--
    GO:0006107oxaloacetate metabolic process IEA--

    Find genes that share ontologies with PC           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PC (PYC)

    9 HMDB Compounds for PC    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Manganesemanganese 7439-96-5--
    Oxalacetic acid2-Ketosuccinate (see all 20)328-42-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--
    ZincZinc (see all 2)7440-66-6--

    3 DrugBank Compounds for PC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--17659996 17008113 17316367 17478118 17297119
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--17008113 16575559 16740637 16765071 16505973
    5-(HEXAHYDRO-2-OXO-1H-THIENO[3,4-D]IMIDAZOL-6-YL)PENTANAL-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for PC gene (see all 57)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 93.6 453 8349677 (8), 14503847 (5), 1445229 (5), 18697738 (5) (see all 99)
    oxaloacetate 87.8 24 16505973 (3), 7650022 (1), 9802220 (1), 10229653 (1) (see all 15)
    methylcrotonyl-coa 82.8 1 12769720 (1)
    carboxyphosphate 82.1 1 1991040 (1)
    acetyl-coa 81.5 22 14749229 (2), 12769720 (1), 19539481 (1), 8251494 (1) (see all 19)
    phosphoenolpyruvate 80.7 40 14503847 (2), 17296778 (1), 19747499 (1), 1542055 (1) (see all 28)
    biotin 80 66 17297119 (5), 12142734 (3), 14749229 (3), 11016687 (3) (see all 26)
    propionyl coa 76.3 4 7558563 (1), 7840079 (1), 10215065 (1)
    methyl succinate 72.4 1 18697738 (1)
    3-methylcrotonyl-coa 70.1 2 10770035 (1), 10215065 (1)



    Find genes that share compounds with PC           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 )
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    REFSEQ mRNAs for PC gene (3 alternative transcripts): 
    NM_000920.3  NM_001040716.1  NM_022172.2  

    Unigene Cluster for PC:

    Pyruvate carboxylase
    Hs.89890  [show with all ESTs]
    Unigene Representative Sequence: NM_001040716
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529047 ENST00000393955(uc001ojn.1) ENST00000393958(uc001ojp.1)
    ENST00000528224 ENST00000529352 ENST00000530259 ENST00000530187 ENST00000524491
    ENST00000531614 ENST00000528403 ENST00000534194 ENST00000525476 ENST00000393960(uc001ojo.1)
    ENST00000355677
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate PC:
    hsa-miR-31 hsa-miR-182 hsa-miR-143 hsa-miR-1271 hsa-miR-1267 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidPC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PC
    Clone
    Products:
         
    OriGene clones in human, mouse for PC (see all 20)
    OriGene ORF clones in mouse, rat for PC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PC (NM_001127510)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PC
    OriGene qSTAR qPCR primer pairs in human, mouse for PC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PC
      QuantiTect SYBR Green Assays in human, mouse, rat PC
      QuantiFast Probe-based Assays in human, mouse, rat PC

    Additional mRNA sequence: 

    AK297705.1 BC011617.2 K02282.1 M26122.1 S72370.1 U04641.1 U30889.1 U30890.1 
    U30891.1 

    9 DOTS entries:

    DT.95274388  DT.413528  DT.95150845  DT.120706674  DT.95274389  DT.100736084  DT.100774803  DT.40131385 
    DT.92423768 

    Selected AceView cDNA sequences (see all 126):

    CR618813 U04641 K02282 BU957785 CA311015 BC011617 BM726454 BE312170 
    CR620429 BX280273 NM_000920 AA339228 CA748786 NM_022172 BM705026 BI769169 
    AW950061 BM727823 CB265960 AI261396 BQ720171 AL556323 M26122 F05885 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PC (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
    SP1:                                                                                                        -                                                   
    SP2:                          -     -                                                                       -                                                   
    SP3:        -                 -     -                                                                                                                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 23b ^ 24 ^ 25
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PC

    (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

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


    PC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
    PC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89890
        Pathway & Disease-focused RT2 Profiler PCR Array including PC: 
              Glucose Metabolism in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PC gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcx1 , 5 pyruvate carboxylase1, 5 89.16(n)1
    96.77(a)1
      19 (4.07 cM)5
    185631  NM_001162946.11  NP_001156418.11 
     45104725 
    lizard
    (Anolis carolinensis)
    Reptilia PC6
    pyruvate carboxylase
    85(a)
    1 ↔ 1
    GL344355.1(2439-13924)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689712 pyruvate carboxylase 76.09(n)    BC059308.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pc2 pyruvate carboxylase 77.18(n)   58068  AF295372.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH063483
    CG15161
    pyruvate carboxylase3
    CG15161
    68(a)3
    69.2(n)1
    69.31(a)1
      46B103
    360201  NM_165712.21  NP_724844.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pyc-11 , 3 pyruvate carboxylase3
    pyc-11
    65(a)3
    60.69(n)1
    65.65(a)1
      V(11820726-11824948)3
    1796161  NM_001269447.11  NP_001256376.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PYC2(YBR218C)4
    PYC11
    Pyruvate carboxylase isoform, cytoplasmic enzyme that more4
    PYC11
    54.78(n)1
    54.75(a)1
      2(662249-658707)4
    8528181  NP_011453.11  8525194 
     NP_009777.14 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PC gene
    3 SIMAP similar genes for PC using alignment to 5 protein entries:     PYC_HUMAN (see all proteins):
    MCCC1    DKFZp686B20267    PCCA

    Find genes that share paralogs with PC           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)
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    Selected SNPs for PC (see all 2074)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405901,2,,4
    CPyruvate carboxylase deficiency (PC deficiency)4 pathogenic166618389(-) GACATG/TGCCGG 6 M I mis1 ese30--------
    rs289405891,2,,4
    CPyruvate carboxylase deficiency (PC deficiency)4 pathogenic166619415(-) CAGGAA/GCCACG 6 T A mis1 ese30--------
    rs289405911,2,,4
    CPyruvate carboxylase deficiency (PC deficiency)4 pathogenic166638839(-) AGAAGC/TGGTCC 6 A V mis1 ese30--------
    VAR_0589614
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0589612 R Q mis40--------
    VAR_0152004
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0152002 R C mis40--------
    VAR_0589604
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0589602 R L mis40--------
    VAR_0589584
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0589582 R W mis40--------
    VAR_0589574
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0589572 R Q mis40--------
    VAR_0589594
    Pyruvate carboxylase deficiency (PC deficiency)4--see VAR_0589592 Y C mis40--------
    rs11318551,2
    Cnon-pathogenic166617432(-) GGGGGG/TTTCCC 6 G syn10--------

    HapMap Linkage Disequilibrium report for PC (66615704 - 66725847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PC (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670411CNV Deletion23128226
    esv2744643CNV Deletion23290073
    nsv821590CNV Deletion20802225
    esv2662361CNV Deletion23128226
    esv2457482CNV Deletion19546169
    nsv825957CNV Loss20364138
    nsv468602CNV Loss19166990
    nsv897790CNV Loss21882294
    nsv897794CNV Loss21882294
    nsv508638CNV Loss20534489

    Human Gene Mutation Database (HGMD): PC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PC
    DNA2.0 Custom Variant and Variant Library Synthesis for PC

    (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.)
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    OMIM gene information: 608786   
    OMIM disorders: 266150  
    UniProtKB/Swiss-Prot: PYC_HUMAN, P11498
  • Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis, mental
    retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild
    lacticacidemia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for PC:    
    About MalaCards
    pyruvate carboxylase deficiency, benign type    pyruvate carboxylase deficiency disease    pyruvate carboxylase deficiency, infantile type    pyruvate carboxylase deficiency, severe neonatal type
    thrombophilia due to protein c deficiency, autosomal dominant    thrombophilia due to protein c deficiency, autosomal recessive    biotin deficiency    short-chain acyl-coa dehydrogenase deficiency
    hyperlysinemia    holocarboxylase synthetase deficiency    citrullinemia    pyruvate decarboxylase deficiency
    multiple carboxylase deficiency    organic acidemia    acute porphyria    reye syndrome
    methylmalonic acidemia

    8 diseases from the University of Copenhagen DISEASES database for PC:
    Lactic acidosis     Multiple carboxylase deficiency     Pyruvate decarboxylase deficiency     Hyperlysinemia
    Organic acidemia     Reye syndrome     Hypoglycemia     Leigh disease

    Find genes that share disorders with PC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PC gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactic acidemia 77.4 2 10323732 (1), 12359142 (1)
    acidosis lactic 70.3 5 1650287 (1), 11928941 (1), 16278852 (1), 7720232 (1) (see all 5)
    hyperammonemia 66.6 3 15347874 (1), 8884572 (1), 7490083 (1)
    ketoacidosis 49.7 1 12359142 (1)
    metabolic disorder 42.8 6 9826895 (1), 16278852 (1), 19306334 (1), 7490083 (1)
    methylmalonic aciduria 41.4 2 7726385 (1), 15272617 (1)
    metabolic acidosis 38.9 1 12359142 (1)
    hypoglycemia 35.5 3 7726385 (1), 9585002 (1), 7490083 (1)
    porphyria acute intermittent 33.6 1 7626691 (1)
    ketosis 32.7 1 11928941 (1)

    Genatlas disease: PC
    lactate acidosis,presenting as a severe neonatal form with hyperammonemia and abnormal redox state,a milder form
    with mental retardation,and developmental delay and a benign form

    GeneTests: PC
    GeneReviews: PC
    Genetic Association Database (GAD): PC
    Human Genome Epidemiology (HuGE) Navigator: PC (855 documents)

    Export disorders for PC 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)
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    PubMed articles for PC gene, integrated from 10 sources (see all 229):
    (articles sorted by number of sources associating them with PC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes. (PubMed id 6548474)1, 2, 3 Freytag S.O. and Collier K.J. (J. Biol. Chem. 1984)
    2. Primary amino acid sequence and structure of human pyruvate carboxylase. (PubMed id 7918683)1, 2, 9 Wexler I.D.... Kerr D.S. (Biochim. Biophys. Acta 1994)
    3. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (PubMed id 19306334)1, 2, 9 Monnot S.... Bonnefont J.-P. (Hum. Mutat. 2009)
    4. Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction. (PubMed id 18297087)1, 2, 9 Xiang S. and Tong L. (Nat. Struct. Mol. Biol. 2008)
    5. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PubMed id 9585002)1, 2, 9 Wexler I.D.... Higgins J.J. (Pediatr. Res. 1998)
    6. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. (PubMed id 9585612)1, 2, 9 Carbone M.A.... Robinson B.H. (Am. J. Hum. Genet. 1998)
    7. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PubMed id 22174851)1, 4 Lingappa J.R....Goldstein D. (PLoS ONE 2011)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Thrombophilia and unexplained pregnancy loss in Indian patients. (PubMed id 19004141)1, 4 Vora S....Ghosh K. (Natl Med J India 2008)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5091 HGNC: 8636 AceView: PC Ensembl:ENSG00000173599 euGenes: HUgn5091
    ECgene: PC Kegg: 5091 H-InvDB: PC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PC[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Pyruvate_carboxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PC gene:
    Search GeneIP for patents involving PC

    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, antibodies-online, 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
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