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LPL lipoprotein lipase [ Homo sapiens (human) ]

Gene ID: 4023, updated on 23-Oct-2018

Summary

Official Symbol
LPLprovided by HGNC
Official Full Name
lipoprotein lipaseprovided by HGNC
Primary source
HGNC:HGNC:6677
See related
Ensembl:ENSG00000175445 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]
Expression
Biased expression in fat (RPKM 753.5) and heart (RPKM 154.2) See more
Orthologs

Genomic context

See LPL in Genome Data Viewer
Location:
8p21.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    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...
  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Aryl Hydrocarbon Receptor, organism-specific biosystem (from WikiPathways)
    Aryl Hydrocarbon Receptor, organism-specific biosystemThe Aryl Hydrocarbon receptor (AhR) is ligand activated transcription factor that regulates wide spectrum of gene expression. The main mediator of AhR is 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or...
  • 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...
  • Composition of Lipid Particles, organism-specific biosystem (from WikiPathways)
    Composition of Lipid Particles, organism-specific biosystemThis particle describes the chemical composition of various lipid particles. See also WP430 and other pathways. Additional sources - A. Goldberg, Overview of Lipid Metabolism, 2015. http://www.msdma...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    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...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    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...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    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...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
    Sterol Regulatory Element-Binding Proteins (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...
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
  • Triacylglyceride Synthesis, organism-specific biosystem (from WikiPathways)
    Triacylglyceride Synthesis, organism-specific biosystem
    Triacylglyceride Synthesis
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Vitamin A and Carotenoid Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin A and Carotenoid Metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
signaling 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
 
low-density lipoprotein particle mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
regulation of lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
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
 
triglyceride biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
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 region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
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
 

General protein information

Preferred Names
lipoprotein lipase
NP_000228.1

NCBI Reference Sequences (RefSeq)

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
    5183..33189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000237.3NP_000228.1  lipoprotein lipase precursor

    Status: REVIEWED

    Source sequence(s)
    AC100802, AK092286, M15856
    Consensus CDS
    CCDS6012.1
    UniProtKB/Swiss-Prot
    P06858
    UniProtKB/TrEMBL
    A0A1B1RVA9
    Related
    ENSP00000309757.6, OTTHUMP00000034806, ENST00000311322.9
    Conserved Domains (1) summary
    cl28163
    Location:33473
    Lipase; Lipase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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