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LPL lipoprotein lipase [ Homo sapiens (human) ]

Gene ID: 4023, updated on 12-Sep-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
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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 glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
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)

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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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