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    LPL lipoprotein lipase [ Homo sapiens (human) ]

    Gene ID: 4023, updated on 19-Jul-2021

    Summary

    Official Symbol
    LPLprovided by HGNC
    Official Full Name
    lipoprotein lipaseprovided by HGNC
    Primary source
    HGNC:HGNC:6677
    See related
    Ensembl:ENSG00000175445 MIM:609708
    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]
    Expression
    Biased expression in fat (RPKM 753.5) and heart (RPKM 154.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LPL in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (19939253..19967259)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (19796764..19824770)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379309 Neighboring gene uncharacterized LOC107986921 Neighboring gene uncharacterized LOC105379311 Neighboring gene uncharacterized LOC105379310 Neighboring gene ribosomal protein L30 pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    GeneReviews: Not available
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    GeneReviews: Not available
    A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
    GeneReviews: Not available
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    GeneReviews: Not available
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    GeneReviews: Not available
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    GeneReviews: Not available
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    GeneReviews: Not available
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    GeneReviews: Not available
    Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
    GeneReviews: Not available
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    GeneReviews: Not available
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    GeneReviews: Not available
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    GeneReviews: Not available
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    GeneReviews: Not available
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    GeneReviews: Not available
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    GeneReviews: Not available
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Hyperlipidemia, familial combined, LPL related
    MedGen: C0020474 OMIM: 144250 GeneReviews: Not available
    Compare labs
    Hyperlipoproteinemia, type I Compare labs
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    GeneReviews: Not available
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    GeneReviews: Not available
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    GeneReviews: Not available
    THOC5: a novel gene involved in HDL-cholesterol metabolism.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables apolipoprotein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lipoprotein lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoprotein lipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables lipoprotein lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables lipoprotein particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine 1-acylhydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipase A1 activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phospholipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-membrane adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables triglyceride binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables triglyceride lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to fatty acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to nutrient ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chylomicron remodeling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in chylomicron remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fatty acid biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in low-density lipoprotein particle mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of chemokine (C-X-C motif) ligand 2 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of chemokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cholesterol storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lipid storage TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of macrophage derived foam cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of sequestering of triglyceride IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in triglyceride biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in triglyceride homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in triglyceride metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chylomicron IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of very-low-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    lipoprotein lipase
    Names
    phospholipase A1
    NP_000228.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008855.2 RefSeqGene

      Range
      42537..70543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1298

    mRNA and Protein(s)

    1. NM_000237.3NP_000228.1  lipoprotein lipase precursor

      See identical proteins and their annotated locations for NP_000228.1

      Status: REVIEWED

      Source sequence(s)
      AC100802, AK092286, M15856
      Consensus CDS
      CCDS6012.1
      UniProtKB/Swiss-Prot
      P06858
      UniProtKB/TrEMBL
      A0A1B1RVA9
      Related
      ENSP00000497642.1, ENST00000650287.1
      Conserved Domains (1) summary
      cl28163
      Location:33473
      Lipase; Lipase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      19939253..19967259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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