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FLASH GENE
Symbol LIPC contributors: mct - updated : 26-03-2020
HGNC name lipase, hepatic
HGNC id 6619
Corresponding disease
LIPCD Hepatic lipase deficiency
WHAR2 wooly hair, autosomal recessive 2, with or without hypotrichosis
Location 15q21.3      Physical location : 58.724.174 - 58.861.072
Synonym name
  • lipase member C
  • hepatic triacylglycerol lipase
  • hepatic lipase
  • Synonym symbol(s) HL, HTGL, LIPH, HDLCQ12
    EC.number 3.1.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 136.90 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   silencer   cAMP   HRE
    text structure glucocorticoide-like responsive element, NRE (negative regulatory element)
    MAPPING cloned Y linked N status confirmed
    Map cen - D15S150 - D15S1033 - LIPC LIPC - D15S148 - D15S964 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1614 - 499 - 2019 31077211
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunespleen    
    Reproductivefemale systemovary   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    Skeletonosteoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • an heparin binding site
  • the triad aspartate -histidine- serine components of the active site
  • four glycosylation sites
  • a PLAT domain
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to Lipc, Mus musculus
    homolog to Lipc, Rattus norvegicus
    ortholog to lipc, Danio rerio
    Homologene
    FAMILY
  • AB hydrolase superfamily
  • lipase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text extracellular PLA1s include hepatic lipase (HL)
    basic FUNCTION
  • glycoprotein that is synthesized and secreted primarily in the liver and involved in lipoproteins metabolism especially HDL
  • involved in lipase activity, plasma lipid transport
  • also mediates hepatic uptake of HDL cholesteryl esters and contributes to the reverse cholesterol transport system
  • lipolytic enzyme involved in several aspects of the same pathways of lipoprotein metabolism (van Haperen 2009)
  • modulates bone remodeling in obesity
  • is an important enzyme in the clearance of triacylglycerol (TAG) from the circulation, and has been proposed to have pro-atherogenic as well as anti-atherogenic propertie
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text plasma lipid transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • heparin
  • protein
  • lipoprotein lipase, LpL (
  • apolipoprotein B (including Ag(x) antigen), ApoB (
  • sphingomyelin is a physiological inhibitor of LIPC activity in lipoproteins
  • cell & other
  • lipids
  • REGULATION
    activated by heparin
    induced by thyroid hormones (T3)
    ASSOCIATED DISORDERS
    corresponding disease(s) LIPCD , WHAR2
    Susceptibility
  • to coronary heart disease, atherosclerosis, dyslipidemia(see LIPC)
  • to hyperalphalipoproteinemia
  • to advanced age-related macular degeneration (AMD)
  • to hypertension
  • to hypertensive disorders of pregnancy
  • Variant & Polymorphism other
  • haplotype in intron 1 associated to hyperalphalipoproteinemia
  • significant association between advanced AMD and the LIPC locus (Neale 2010)
  • expression level of LIPC was significantly associated with AMD pathology
  • associated with intermediate and large drusen and advanced age-related macular degeneration (
  • LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD
  • LIPC rs2070895 polymorphism was found to be related to an increased risk of hypertension
  • Variants -250G/A and -514C/T in the LIPC gene are associated with hypertensive disorders of pregnancy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hHLmt-expressing mice display severe hypoalphalipoproteinemia (