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    LPL lipoprotein lipase [ Homo sapiens (human) ]

    Gene ID: 4023, updated on 17-Apr-2016
    Official Symbol
    LPLprovided by HGNC
    Official Full Name
    lipoprotein lipaseprovided by HGNC
    Primary source
    HGNC:HGNC:6677
    See related
    Ensembl:ENSG00000175445 HPRD:01999; MIM:609708; Vega:OTTHUMG00000036645
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIPD; HDLCQ11
    Summary
    LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    8p22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (19939071..19967259)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (19796582..19824770)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene integrator complex subunit 10 Neighboring gene uncharacterized LOC105379309 Neighboring gene uncharacterized LOC105379311 Neighboring gene uncharacterized LOC105379310 Neighboring gene ribosomal protein L30 pseudogene 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    NHGRI GWA Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
    NHGRI GWA Catalog
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    NHGRI GWA Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    NHGRI GWA Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    NHGRI GWA Catalog
    Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
    NHGRI GWA Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    NHGRI GWA Catalog
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    NHGRI GWA Catalog
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    NHGRI GWA Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog
    THOC5: a novel gene involved in HDL-cholesterol metabolism.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of lipoprotein lipase (LPL) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Sera from high viral load HIV-1-infected individuals induce a clear proadipogenic phenotype with increased expression of adipogenic markers including LPL and PPARgamma by HIV-1 Tat-mediated inhibition of COUP TF-1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
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      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
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      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
      Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
    • Glycerolipid metabolism, organism-specific biosystem (from KEGG)
      Glycerolipid metabolism, organism-specific biosystem
      Glycerolipid metabolism
    • Glycerolipid metabolism, conserved biosystem (from KEGG)
      Glycerolipid metabolism, conserved biosystem
      Glycerolipid metabolism
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
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      Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
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      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • PPAR signaling pathway, organism-specific biosystem (from KEGG)
      PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPAR signaling pathway, conserved biosystem (from KEGG)
      PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
      Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
    • SREBP signalling, organism-specific biosystem (from WikiPathways)
      SREBP signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
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      Triacylglyceride Synthesis, organism-specific biosystem
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein lipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipoprotein lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    phospholipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    triglyceride binding IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chylomicron remodeling IC
    Inferred by Curator
    more info
    PubMed 
    fatty acid biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
     
    phospholipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of chemokine secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cholesterol storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of macrophage derived foam cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of sequestering of triglyceride IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    triglyceride biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    triglyceride homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    triglyceride metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very-low-density lipoprotein particle remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    chylomicron IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    very-low-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    lipoprotein lipase
    NP_000228.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008855.1 RefSeqGene

      Range
      5001..33189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000237.2NP_000228.1  lipoprotein lipase precursor

      See identical proteins and their annotated locations for NP_000228.1

      Status: REVIEWED

      Source sequence(s)
      AC100802, DA485210, M15856
      Consensus CDS
      CCDS6012.1
      UniProtKB/Swiss-Prot
      P06858
      Related
      ENSP00000309757, OTTHUMP00000034806, ENST00000311322, OTTHUMT00000089113
      Conserved Domains (3) summary
      TIGR03230
      Location:33473
      lipo_lipase; lipoprotein lipase
      cd00707
      Location:37334
      Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
      cd01758
      Location:341465
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

      Range
      19939071..19967259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      19998390..20026574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)