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FLASH GENE
Symbol PNPLA8 contributors: mct/npt - updated : 12-12-2022
HGNC name patatin-like phospholipase domain containing 8
HGNC id 28900
Corresponding disease
MMLA mitochondrial myopathy with lactic acidosis
Location 7q31.1      Physical location : 108.112.070 - 108.166.638
Synonym name
  • IPLA2-gamma
  • phospholipase A2, group VI (cytosolic, calcium-independent)
  • intracellular membrane-associated calciuml independent phospholipase A2 gamma
  • membrane-associated calcium-independent phospholipase A2 gamma
    • Synonym symbol(s) IPLA2-2, IPLA2 (GAMMA), IPLA2G, IPLA22, PNPLA-gamma
    EC.number 3.1.1.5
    DNA
    TYPE functioning gene
    STRUCTURE 57.76 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D7S1409 - D7S2459 - DLD - PNPLA8 - D7S2648 - D7S2425 - D7S1861 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4681 88.35 782 - 2015 25512002
    11 - 4457 - 682 - 2015 25512002
    10 - 4396 - 682 - 2015 25512002
    10 - 4337 - 720 - 2015 25512002
    10 - 4523 - 782 - 2015 25512002
    11 - 4569 - 782 - 2015 25512002
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrinepancreas    
     parathyroid   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a lipase consensus sequence Gly-Xaa-Ser-Xaa-Gly
  • several stretches surrounding the motif, homologous to those of the catalytic domain of cytosolic calcium-independent phospholipase A2 (iPLA(2))
    • HOMOLOGY
    Homologene
    FAMILY
  • patatin-like phospholipase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • a 63-kDa form was localized mainly in peroxisomes (Murakami 2005)
  • is preferentially distributed in the mitochondria and peroxisomes and is thought to be responsible for the maintenance of lipid homeostasis in these organelles
    • basic FUNCTION
  • may be contributing to lipid second messenger generation by hydrolysis of peroxisomal arachidonic acid-containing phospholipids
  • playing a role in the regulation of adipocyte differentiation (Wilson 2006)
  • having a role in cellular homeostasis and signaling, a functional link between peroxisomal AA release and eicosanoid generation, and a potential contribution to tumorigenesis (Murakami 2005)
  • is the predominant phospholipase activity in mammalian mitochondria
  • is one of the iPLA2 enzymes, which do not require Ca2+ ion for their activity
  • key role of PNPLA8 in the remodeling of lower molecular weight immature cardiolipins with predominantly saturated acyl chains to high molecular weight mature cardiolipins with highly unsaturated PUFA acyl chains, typical for the brain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • fatty acid metabolism
  • SREBF2/PNPLA8 axis represents a novel regulatory mechanism for lipid homeostasis
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other is activated by divalent cations and inhibited by acyl-CoA modulating the generation of biologically active metabolites that regulate mitochondrial bioenergetic and signaling functions
    ASSOCIATED DISORDERS
    corresponding disease(s) MMLA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    is a critical factor in the development of many diseases, including metabolic diseases and cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS