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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PC Gene

protein-coding   GIFtS: 71
GCID: GC11M066615

Pyruvate Carboxylase

Microbiology & Infectious Diseases Congress
  See 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

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

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 enamel caries, and pyruvate carboxylase deficiency disease, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11498

  • 4/22 DME Specific Peptides for PC (P11498) (see all 22)
     IGAPMPG  NRAQKLL  RVTTEDP  ISPHYDS 

    PC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PC Protein Expression
    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
    Human Recombinant Protein Products for PC: 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    PC for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for PC 
    Cloud-Clone Corp. CLIAs for PC


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

    5/17 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


    PC for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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--
         
    PC for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PC
    6 QIAGEN miScript miRNA 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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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): PC (NM_001127510)
    Sino Biological Human cDNA Clone for PC
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PC


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PC About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    gluconeogenesis0.39
    Glycolysis and Gluconeogenesis0.60
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    4Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    5Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PC
        Glycolysis and gluconeogenesis (short map)


    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


    5/7        Reactome Pathways for PC (see all 7)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Biotin transport and metabolism
    Glucose 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


    PC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PC

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

    5/156 Interacting proteins for PC (P114983 ENSP000003775274) via UniProtKB, MINT, STRING, and/or I2D (see all 156)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=3 
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    ASLP044243, ENSP000003071884I2D: score=2 STRING: ENSP00000307188
    GCH1P307933, ENSP000003788904I2D: score=2 STRING: ENSP00000378890
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (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--

    PC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PC for compounds           About GeneDecksing

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

    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

    10/57 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)

    Search CenterWatch for drugs/clinical trials and news about PC / PYC

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    SwitchGear 3'UTR luciferase reporter plasmidPC 3' UTR sequence
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      QIAGEN 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 

    24/126 AceView cDNA sequences (see all 126):

    U04641 BM726454 BC011617 K02282 BX280273 CR618813 CA748786 BU957785 
    NM_000920 NM_022172 BM705026 AA339228 CR620429 BE312170 CA311015 AI240866 
    BQ228612 AL556323 CA422838 AW068920 BQ881271 AI261396 AL121491 AW950061 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PC expression in normal human tissues (normalized intensities)      PC embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
             sensory organ/ear/inner ear   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             Human Trabecular Meshwork Cells (HTMC)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
             Human Annulus Fibrosus Cells (HAFC)   

    See PC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PC

    SOURCE GeneReport for Unigene cluster: Hs.89890
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

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

    Orthologs for PC gene from 7/21 species (see all 21)    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
    Uncharacterized protein
    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_165710.21  NP_724842.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pyc-11 , 3 pyruvate carboxylase3
    Protein PYC-11
    65(a)3
    60.72(n)1
    65.65(a)1
      V(11820726-11824948)3
    1796161  NM_073576.31  NP_505977.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PYC2(YBR218C)4
    PYC11
    Pyruvate carboxylase isoform, cytoplasmic enzyme that more4
    Pyc1p1
    54.77(n)1
    54.8(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)
    About This Section
    Paralogs for PC gene
    3 SIMAP similar genes for PC using alignment to 5 protein entries:     PYC_HUMAN (see all proteins):
    MCCC1    DKFZp686B20267    PCCA

    PC for paralogs           About GeneDecksing



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

    10/2074 SNPs in PC are shown (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
    ----------
    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--------
    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--------
    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) 10/18 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/37 diseases for PC (see all 37):    About MalaCards
    enamel caries    pyruvate carboxylase deficiency disease    organic acidemia    short-chain acyl-coa dehydrogenase deficiency
    holocarboxylase synthetase deficiency    hyperlysinemia    acute porphyria    reye syndrome
    citrullinemia    multiple carboxylase deficiency    pyruvate decarboxylase deficiency    methylmalonic acidemia
    protein-energy malnutrition    propionic acidemia    porphyria    apraxia
    metabolic acidosis    lactic acidosis    thrombophilia    hypoglycemia

    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

    PC for disorders           About GeneDecksing

    10/17 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)
    About This Section

    PubMed articles for PC gene, integrated from 9 sources (see all 228):
    (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. (1984)
    2. Primary amino acid sequence and structure of human pyruvate carboxylase. (PubMed id 7918683)1, 2, 9 Wexler I.D.... Kerr D.S. (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. (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. (2008)
    5. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PubMed id 9585002)1, 2, 9 Wexler I.D.... Higgins J.J. (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. (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. (2011)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    9. Thrombophilia and unexplained pregnancy loss in Indian patients. (PubMed id 19004141)1, 4 Vora S....Ghosh K. (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. (2004)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PC
    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.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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