LPL lipoprotein lipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: LPLprovided by HGNC
Official Full Name: lipoprotein lipaseprovided by HGNC
Primary source: HGNC:HGNC:6677
See related: Ensembl:ENSG00000175445 MIM:609708; AllianceGenome:HGNC:6677
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: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (19939253..19967259)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (20204296..20232297)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (19796764..19824770)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population.
Title: Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population.
Metabolic syndrome risk in adult coffee drinkers with the rs301 variant of the LPL gene.
Title: Metabolic syndrome risk in adult coffee drinkers with the rs301 variant of the LPL gene.
Developing a model to predict the early risk of hypertriglyceridemia based on inhibiting lipoprotein lipase (LPL): a translational study.
Title: Developing a model to predict the early risk of hypertriglyceridemia based on inhibiting lipoprotein lipase (LPL): a translational study.
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Title: Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
The lipoprotein lipase that is shuttled into capillaries by GPIHBP1 enters the glycocalyx where it mediates lipoprotein processing.
Title: The lipoprotein lipase that is shuttled into capillaries by GPIHBP1 enters the glycocalyx where it mediates lipoprotein processing.
The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants.
Title: The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants.
Variants within the LPL gene confer susceptility to diabetic kidney disease and rapid decline in kidney function in Chinese patients with type 2 diabetes.
Title: Variants within the LPL gene confer susceptility to diabetic kidney disease and rapid decline in kidney function in Chinese patients with type 2 diabetes.
Interaction between APOE, APOA1, and LPL Gene Polymorphisms and Variability in Changes in Lipid and Blood Pressure following Orange Juice Intake: A Pilot Study.
Title: Interaction between APOE, APOA1, and LPL Gene Polymorphisms and Variability in Changes in Lipid and Blood Pressure following Orange Juice Intake: A Pilot Study.
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.
Title: The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Title: Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.

Submit: New GeneRIF Correction See all GeneRIFs (461)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperlipidemia, familial combined, LPL related MedGen: C0020474 OMIM: 144250 GeneReviews: Not available	Compare labs
Hyperlipoproteinemia, type I MedGen: C0023817 OMIM: 238600 GeneReviews: Familial Lipoprotein Lipase Deficiency	Compare labs

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
THOC5: a novel gene involved in HDL-cholesterol metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:177387 (e-PCR)
- UniSTS:154882

GDB:212664 (e-PCR)
- UniSTS:156174

RH70259 (e-PCR)
- UniSTS:71445

D8S1948 (e-PCR)
- UniSTS:76568

RH36522 (e-PCR)
- UniSTS:49

SHGC-85707 (e-PCR)
- UniSTS:103740

LPL (e-PCR), detects polymorphism
- UniSTS:266061

GDB:623664 (e-PCR)
- UniSTS:158318

STS-M15856 (e-PCR)
- UniSTS:64183

GDB:189516 (e-PCR)
- UniSTS:155591

GDB:285016 (e-PCR)
- UniSTS:156384

GDB:182360 (e-PCR)
- UniSTS:155372

GDB:191079 (e-PCR)
- UniSTS:155641

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
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 lipoprotein lipase activity	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase A1 activity	IDA Inferred from Direct Assay 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 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	IBA Inferred from Biological aspect of Ancestor 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
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 high-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in low-density lipoprotein particle mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of adipose tissue development	IMP Inferred from Mutant Phenotype 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 bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	ISS Inferred from Sequence or Structural Similarity more info
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
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 homeostasis	NAS Non-traceable Author Statement 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	IBA Inferred from Biological aspect of Ancestor more info
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 catalytic complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: lipoprotein lipase

Names: phospholipase A1

NP_000228.1

EC 3.1.1.32

EC 3.1.1.34

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.