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FLASH GENE
Symbol PC contributors: mct - updated : 18-05-2011
HGNC name pyruvate carboxylase
HGNC id 8636
DNA
TYPE functioning gene
STRUCTURE 109.85 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure
  • 20 coding exons and four non-coding exons at the 5prime-untranslated region (5prime-UTR)
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text all variants encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 4004 129.6 1178 - 2008 18676167
    23 - 4192 129.6 1178 - 2008 18676167
    21 - 3959 129.6 1178 - 2008 18676167
    EXPRESSION
    Rna function the highest level of PC mRNA is found in liver corresponding to this tissue high level of PC activity
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four domains, namely, biotin carboxylase (BC), carboxyltransferase (CT), pyruvate carboxylase tetramerization (PT), and biotin carboxyl carrier protein (BCCP)
  • homotetramer with each subunit containing the three functional domains BC, CT and BCCP (PMID
    • mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • nuclear-encoded mitochondrial enzyme, catalyzing the conversion of pyruvate to oxaloacetate
  • biotin-containing enzyme that catalyses the HCO(3)(-)- and MgATP-dependent carboxylation of pyruvate to form oxaloacetate
  • crucial for intermediary metabolism, controlling fuel partitioning toward gluconeogenesis or lipogenesis and in insulin secretion
  • mitochondrial enzyme that serves to supply the citric acid cycle with oxaloacetate by carboxylation of pyruvate (PMID
  • nuclear encoded protein which is actively transported into the mitochondria, and found in isolated mitochondria from human myotubes (PMID
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    a biotin covalently attached as cofactor
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCDLA
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in pancreatic islets of patients with type 2 diabetes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS