LPL lipoprotein lipase [Homo sapiens] - Gene

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Summary

Official Symbol: LPLprovided by HGNC
Official Full Name: lipoprotein lipaseprovided by HGNC
Primary source: 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]

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Genomic context

Location :: 8p22

Sequence :: Chromosome: 8; NC_000008.10 (19796582..19824770)

See LPL in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Proper regulation of LPL is important for controlling the delivery of lipid nutrients to tissues. [Review]
Title: New wrinkles in lipoprotein lipase biology.
This study sought to test the effects of LPL polymorphisms and a high-carbohydrate low-fat diet on the serum lipid profile of Han Chinese.
Title: Effects of lipoprotein lipase gene variations, a high-carbohydrate low-fat diet, and gender on serum lipid profiles in healthy Chinese Han youth.
results confirm that hypertriglyceridemia is a key feature of familial LPL deficiency. This is due to impaired VLDL- and IDL-apoB-100 catabolism and VLDL-to-IDL conversion. Single-allele mutations of the LPL gene result in modest to elevated plasma tri...
Title: Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations.
These results suggest that rs253 C allele and CC genotype of LPL confer risk for schizophrenia in men.
Title: Association between schizophrenia and single nucleotide polymorphisms in lipoprotein lipase gene in a Han Chinese population.
Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism
Title: Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism.
The pro-inflammatory properties of VLDL were attenuated by eicosapentaenoic acid administration via decrease in susceptibility of VLDL to LPL.
Title: Eicosapentaenoic acid administration attenuates the pro-inflammatory properties of VLDL by decreasing its susceptibility to lipoprotein lipase in macrophages.
meta-analysis indicated that LPL Ser447Ter polymorphism was associated with a significant reduction in the risk of ischemic stroke, especially atherosclerotic stroke subtype in both Caucasian and East-Asian
Title: Lipoprotein lipase Ser447Ter polymorphism associated with the risk of ischemic stroke: a meta-analysis.
Data show that LPL, FABP4, LRP1 and ASP expression in visceral adipose tissue was higher in lean controls, while in subcutaneous adipose tissue, LPL and FABP4 expression were also higher in lean controls.
Title: Adipose tissue gene expression of factors related to lipid processing in obesity.
Hematopoietic cell-derived LPL could efficiently ameliorate severe hypertriglyceridemia and hypo-alpha-cholesterolemia at the compensation of increased triglyceride content of liver
Title: Amelioration of hypertriglyceridemia with hypo-alpha-cholesterolemia in LPL deficient mice by hematopoietic cell-derived LPL.
genetic association studies in populations in the United States: Lipoprotein lipase gene variants (D9N/rs1801177; S447X/rs328) are associated with two patterns of lipoprotein diameter in metabolic syndrome.
Title: Lipoprotein lipase S447X variant associated with VLDL, LDL and HDL diameter clustering in the MetS.

Submit: New GeneRIF Correction See all (260)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

A genome-wide association study of the metabolic syndrome in Indian Asian men.

Combined hyperlipidemia, familial

MIM: 144250

Common genetic variation near MC4R is associated with waist circumference and insulin resistance.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

High density lipoprotein cholesterol level QTL 11

MIM: 609708

Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky ("lactescent" or "lipemic") appearance. Symptoms usually resolve with restriction of total dietary fat to 20 grams/day or less.

Diagnosis Testing

Familial LPL deficiency is caused by extremely low or absent activity of LPL, encoded by LPL. The diagnosis of familial LPL deficiency is based on the assay of LPL enzyme activity in plasma following intravenous administration of heparin. Detection of very low or absent LPL enzyme activity in an assay system that contains either normal plasma or apoprotein C-II and excludes hepatic lipase is diagnostic of familial LPL deficiency. Molecular genetic testing of LPL is available on a clinical basis.

Genetic Counseling

Familial lipoprotein lipase deficiency is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.

References

PMID: 20301485

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
P06858	P02655	APOC2	HPRD	PubMed
P06858	Q9H1I8	ASCC2	HPRD	PubMed
P06858	P27797	CALR	HPRD	PubMed
P06858	P11597	CETP	HPRD	PubMed
P06858	Q7L5N1	COPS6	HPRD	PubMed
P06858	Q9P2H0	KIAA1377	HPRD	PubMed
P06858	P06858	LPL	HPRD	PubMed
P06858	Q07954	LRP1	HPRD	PubMed
P06858	P98164	LRP2	HPRD	PubMed
P06858	Q9Y383	LUC7L2	HPRD	PubMed
P06858	P29074	PTPN4	HPRD	PubMed
P06858	Q02543	RPL18A	HPRD	PubMed
P06858	Q9H832	UBE2Z	HPRD	PubMed
P06858	P98155	VLDLR	HPRD	PubMed
BioGRID:110205	BioGRID:123921	ASCC2	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:116176	COPS6	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:108325	EMD	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:121617	KIAA1377	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:110215	LRP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110205	BioGRID:110216	LRP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110205	BioGRID:119646	LUC7L2	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:111362	PLK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110205	BioGRID:111741	PTPN4	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:112062	RPL18A	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110205	BioGRID:122419	UBE2Z	BioGRID	PubMed	Two-hybrid
BioGRID:110205	BioGRID:113277	VLDLR	BioGRID	PubMed	Reconstituted Complex

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General gene information

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

Genotypes

See LPL SNP Geneview Report
See LPL SNP Genotype Report
See LPL SNP Variation Viewer Report

Homology

Map Viewer (Mouse, Rat)

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...
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...
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 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...
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...
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...
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
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 ...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
heparin binding	IDA Inferred from Direct Assay more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
lipoprotein lipase activity	IDA Inferred from Direct Assay more info	PubMed
lipoprotein lipase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
lipoprotein lipase activity	TAS Traceable Author Statement more info
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
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
lipid catabolic process	IEA Inferred from Electronic Annotation more info
lipid metabolic process	TAS Traceable Author Statement 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 cholesterol storage	IMP Inferred from Mutant Phenotype 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 drug	IEA Inferred from Electronic Annotation more info
small molecule 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 to 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 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

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General protein information

Preferred Names: lipoprotein lipase

Names: lipoprotein lipase

NP_000228.1

EC 3.1.1.34

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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

NG_008855.1 RefSeqGene

Range

5001..33189

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000237.2 → NP_000228.1 lipoprotein lipase precursor

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

cd01758
Location:341 – 465
Blast Score: 420

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 ...

cd00707
Location:37 – 334
Blast Score: 847

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 ...

TIGR03230
Location:33 – 473
Blast Score: 2271

lipo_lipase; lipoprotein lipase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

19796582..19824770

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

18336820..18365002

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC100802.2 (20423..46128)	None
genomic	AC107964.4	None
genomic	AF050163.1	AAC61679.1
genomic	AY092405.1	AAM23256.1
genomic	CH471080.2	EAW63764.1
genomic	DQ083390.1	AAY85371.1
genomic	M76722.1	AAA59528.1
genomic	S76076.1	AAB21000.1
genomic	S76077.1	AAB20999.1
genomic	X68111.1	CAA48230.1
mRNA	AK092286.1	BAG52519.1
mRNA	AK222464.1	BAD96184.1
mRNA	AK290290.1	BAF82979.1
mRNA	AK297164.1	BAH12512.1
mRNA	AK312311.1	BAG35236.1
mRNA	BC011353.1	AAH11353.1
mRNA	BT006726.1	AAP35372.1
mRNA	CR457054.1	CAG33335.1
mRNA	DA485210.1	None
mRNA	M15856.1	AAB59536.1
mRNA	S78266.1	None
mRNA	X14390.1	CAA32564.1
mRNA	X54516.1	CAA38372.1
other-genetic	DQ893541.2	ABM84467.1
other-genetic	DQ893751.2	ABM84677.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P06858.1	GenPept	UniProtKB/Swiss-Prot:P06858
Q4JIZ7	GenPept	UniProtKB/TrEMBL:Q4JIZ7
Q53HW6	GenPept	UniProtKB/TrEMBL:Q53HW6
Q6IAV0	GenPept	UniProtKB/TrEMBL:Q6IAV0
Q71UV2	GenPept	UniProtKB/TrEMBL:Q71UV2
Q8NEW3	GenPept	UniProtKB/TrEMBL:Q8NEW3