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FLASH GENE
Symbol LMF1 contributors: mct/npt - updated : 25-03-2020
HGNC name lipase maturation factor 1
HGNC id 14154
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminus with critical role for the maturation of LPL and relevant ratio of chaperone to substrate
    • HOMOLOGY
    interspecies homolog to murine Tmem112 ( 79 pc)
    Homologene
    FAMILY
  • lipase maturation factor family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • functions in the post-translational attainment of enzyme activity for both lipoprotein lipase and hepatic lipase (Doolittle 2009)
  • involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum (Cefalu 2009)
  • is believed to act as a client specific chaperone for dimeric lipases
  • is a chaperone localized to the endoplasmic reticulum (ER) and required for the post-translational maturation and activation of several vascular lipases
  • is an unfolded protein response target gene, and ATF6 signaling is sufficient and necessary for activation of the LMF1 promoter
  • LMF1 has a broader role than simply folding lipases, and we identified fibronectin and the low-density lipoprotein receptor (LDLR) as novel LMF1 clients that contain multiple, non-sequential disulfide bonds
  • is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding
  • is a protein essential for the maturation of lipoprotein lipase (LPL)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts physically with lipoprotein lipase and hepatic lipase and localizes the lipase interaction site to loop C within DUF1222 (Doolittle 2009)
  • LPL activity in vivo depends on the endoplasmic reticulum-resident chaperone protein LMF1
  • ATF6 is sufficient to induce the LMF1 promoter in the absence of ER stress, and this effect is mediated by the TM-responsive cis-regulatory element
  • proper LPL folding and exit from the endoplasmic reticulum (ER) require lipase maturation factor 1 (LMF1), an ER-resident transmembrane protein
  • LMF1 is an endoplasmic reticulum-resident chaperone protein that is required for proper folding and secretion of LPL
    • cell & other
    REGULATION
    induced by its expression is induced by ER stress in various cell lines
    ASSOCIATED DISORDERS
    corresponding disease(s) LPPLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in hypertriglyceridemia with combined lipase deficiency
    Susceptibility to combined lipase deficiency with hypertriglyceridemia
    Variant & Polymorphism
    Candidate gene an important candidate gene in hypertriglyceridemia
    Marker
    Therapy target
    ANIMAL & CELL MODELS