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FLASH GENE
Symbol PNPLA3 contributors: mct/npt/pgu - updated : 10-06-2011
HGNC name patatin-like phospholipase domain containing 3
HGNC id 18590
Location 22q13.31      Physical location : 44.319.618 - 44.343.448
Synonym name
  • chromosome 22 open reading frame 20
  • adiponutrin
  • calcium-independent phospholipase A2-epsilon
  • acylglycerol O-acyltransferase
  • Synonym symbol(s) FLJ22012, DJ796I17.1, C22orf20, ADPN , iPLA(2)epsilon
    EC.number 3.1.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 23.83 kb     9 Exon(s)
    regulatory sequence Promoter
    text structure
  • MLXIPL has been identified as a transcription factor regulating the induction of liver pyruvate kinase and other lipogenic genes in response to a high carbohydrate diet and it was possible that it might also contribute to the glucose-responsiveness of PNPLA3 (
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2805 52.7 481 - 2008 19029121
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver   highly Homo sapiens
    Nervousbrain    
    Skin/Tegumentskin    
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly Homo sapiens
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a shared protein domain discovered initially in patatin
  • HOMOLOGY
    interspecies homolog to Drosophila CG5560
    homolog to C.elegans C05D11.7a
    Homologene
    FAMILY
  • IPLA2/lipase family
  • patatin-like phospholipase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • strongly associated with membranes and with lipid droplets
  • basic FUNCTION
  • triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes
  • may be involved in the balance of energy usage/storage in adipocytes
  • participating in triacylglycerol hydrolysis and the acyl-CoA independent transacylation of acylglycerols, thereby facilitating energy mobilization and storage in adipocytes
  • lipid hydrolase with an unusual folding topology that differs from classical lipases
  • role for adiponutrin as a susceptibility gene for hepatic dysfunction
  • its function may be related to some regulatory aspect of the pathway of lipogenesis or lipolysis
  • plays a role in the hydrolysis of glycerolipids (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with USF2 (USF2 is one of the transcription factors that can regulate adiponutrin promoter activity in the presence of glucose)
    cell & other
    REGULATION
    Other highly regulated by changes in energy balance
    nutritionally regulated, decreasing after fasting and strongly up-regulated by feeding in adipose tissue and liver
    regulated in a coordinated manner with genes involved in lipogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    by fasting in adipose tissue
    constitutional     --over  
    in adipose tissue and in liver of obese patients
    constitutional germinal mutation     loss of function
    I148M substitution causes a loss of function in nonalcoholic fatty liver disease
    Susceptibility
  • to nonalcoholic fatty liver disease
  • to obesity
  • to alcoholic liver disease and clinically evident alcoholic cirrhosis
  • to lower HDL cholesterol and a tendency toward lower free fatty acid levels
  • to hepatic steatosis in obese youths
  • to non-alcoholic fatty liver disease
  • Variant & Polymorphism SNP , other
  • variant (rs738409) was strongly associated with hepatic fat content and nonalcoholic fatty liver disease
  • rs738409 variant associated with obesity
  • rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis
  • GG genotype had significantly lower HDL cholesterol and a tendency toward lower free fatty acid levels
  • common variant of the PNPLA3 gene confers susceptibility to hepatic steatosis in obese youths without increasing the level of hepatic and peripheral insulin resistance
  • PNPLA3 p.I148M variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    obesity  
    potential target for therapies to manage obesity and its associated disorders by controlling its expression or actions
    ANIMAL & CELL MODELS