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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
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