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FLASH GENE
Symbol PRKAG3 contributors: mct - updated : 25-08-2012
HGNC name protein kinase, AMP-activated, gamma 3 non-catalytic subunit
HGNC id 9387
DNA
TYPE functioning gene
STRUCTURE 9.41 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2299 - 489 - 2010 20473479
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinepancreas    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal predominantly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four CBS forming a stable globular domain
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to rattus Prkag3 (84pc)
    ortholog to murine Prkag3 (85pc)
    Homologene
    FAMILY
  • 5'-AMP-activated protein kinase gamma subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • being responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase
  • regulating cholesterol synthesis via phosphorylation and inactivation of hydroxymethylglutaryl-CoA reductase and hormone-sensitive lipase
  • may play a role in the regulation of energy metabolism in skeletal muscle
  • has a broad role in the regulation of glucose and lipid metabolism making it a promising target in the treatment of type 2 diabetes mellitus
  • involved in the pathogenesis of Alzheimer disease
  • stimulates energy production via glucose and lipid metabolism, whereas it inhibits energy consuming functions, such as protein and cholesterol synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • fatty acid biosynthesis
  • a component
  • heterotrimer of an alpha catalytic subunit, a beta and a gamma non-catalytic regulatory subunits
  • regulatory subunit of the AMP-activated protein kinase (AMPK)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by cellular metabolic stresses
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     gain of function
    gain-of-function R225Q mutation increases mitochondrial biogenesis in glycolytic skeletal muscle (
    Susceptibility
    Variant & Polymorphism other
  • through the enhancement of skeletal muscle glucose uptake and increased mitochondrial content, the R225W mutation may significantly enhance exercise performance
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 2 
    promising tissue-specific target for the treatment of type 2 diabetes mellitus, a condition in which glucose uptake and mitochondrial function are impaired
    ANIMAL & CELL MODELS