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Aliases for LPL Gene

Aliases for LPL Gene

  • Lipoprotein Lipase 2 3 5
  • EC 3.1.1.34 4 63
  • LIPD 3 4
  • EC 3.1.1 63
  • HDLCQ11 3

External Ids for LPL Gene

Previous HGNC Symbols for LPL Gene

  • LIPD

Previous GeneCards Identifiers for LPL Gene

  • GC08P019672
  • GC08P019859
  • GC08P019807
  • GC08P018336
  • GC08P019759

Summaries for LPL Gene

Entrez Gene Summary for LPL Gene

  • 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]

GeneCards Summary for LPL Gene

LPL (Lipoprotein Lipase) is a Protein Coding gene. Diseases associated with LPL include lipoprotein lipase deficiency and hyperlipidemia, familial combined. Among its related pathways are Alzheimer's disease and triacylglycerol biosynthesis. GO annotations related to this gene include receptor binding and carboxylic ester hydrolase activity. An important paralog of this gene is PNLIPRP1.

UniProtKB/Swiss-Prot for LPL Gene

  • The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity).

Tocris Summary for LPL Gene

  • Lipases are esterase enzymes that catalyze the hydrolysis of ester bonds within hydrophobic lipids. The diverse class of lipase enzymes includes diacylglycerol lipase (DAGL) and lipoprotein lipase (LPL) and endothelial lipase (LIPG).

Gene Wiki entry for LPL Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LPL Gene

Genomics for LPL Gene

Regulatory Elements for LPL Gene

Enhancers for LPL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LPL on UCSC Golden Path with GeneCards custom track

Genomic Location for LPL Gene

Chromosome:
8
Start:
19,901,717 bp from pter
End:
19,967,259 bp from pter
Size:
65,543 bases
Orientation:
Plus strand

Genomic View for LPL Gene

Genes around LPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LPL Gene

Proteins for LPL Gene

  • Protein details for LPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06858-LIPL_HUMAN
    Recommended name:
    Lipoprotein lipase
    Protein Accession:
    P06858
    Secondary Accessions:
    • B2R5T9
    • Q16282
    • Q16283
    • Q96FC4

    Protein attributes for LPL Gene

    Size:
    475 amino acids
    Molecular mass:
    53162 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids. Interacts with GPIHBP1.

neXtProt entry for LPL Gene

Proteomics data for LPL Gene at MOPED

Post-translational modifications for LPL Gene

  • Tyrosine nitration after lipopolysaccharide (LPS) challenge down-regulates the lipase activity.
  • Glycosylation at Asn 70 and Asn 386
  • Modification sites at PhosphoSitePlus

Other Protein References for LPL Gene

Antibody Products

  • R&D Systems Antibodies for LPL (Lipoprotein Lipase/LPL)

Domains & Families for LPL Gene

Gene Families for LPL Gene

Graphical View of Domain Structure for InterPro Entry

P06858

UniProtKB/Swiss-Prot:

LIPL_HUMAN :
  • Contains 1 PLAT domain.
  • Belongs to the AB hydrolase superfamily. Lipase family.
Domain:
  • Contains 1 PLAT domain.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LPL: view

Function for LPL Gene

Molecular function for LPL Gene

GENATLAS Biochemistry:
lipoprotein lipase,50.4kDa,serine esterase with high homology to LIPC,PNLIP,expressed in adipocytes,striated muscle,located on the luminal surface of capillary endothelial cells,involved in plasma lipid transport
UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot Function:
The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity).

Enzyme Numbers (IUBMB) for LPL Gene

Gene Ontology (GO) - Molecular Function for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity IEA,ISS 10727238
GO:0008201 heparin binding IDA 12573449
GO:0034185 apolipoprotein binding IPI 15178420
genes like me logo Genes that share ontologies with LPL: view
genes like me logo Genes that share phenotypes with LPL: view

Human Phenotype Ontology for LPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LPL Gene

MGI Knock Outs for LPL:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for LPL Gene

Localization for LPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPL Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Locates to the plasma membrane of microvilli of hepatocytes with triacyl-glycerol-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LPL Gene COMPARTMENTS Subcellular localization image for LPL gene
Compartment Confidence
extracellular 5
plasma membrane 4
peroxisome 3
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
cytoskeleton 1
golgi apparatus 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0031012 extracellular matrix IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with LPL: view

Pathways & Interactions for LPL Gene

genes like me logo Genes that share pathways with LPL: view

Gene Ontology (GO) - Biological Process for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0009409 response to cold IEA --
GO:0010744 positive regulation of macrophage derived foam cell differentiation IEA,IC 12573449
genes like me logo Genes that share ontologies with LPL: view

No data available for SIGNOR curated interactions for LPL Gene

Drugs & Compounds for LPL Gene

(93) Drugs for LPL Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orlistat Approved, Investigational Pharma inhibitor Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 52
Fenofibrate Approved Pharma PPARalpha agonist 162
AST-120 Approved, Investigational Pharma Target 0
Tyloxapol Approved, Investigational Pharma Target, inhibitor 0
Pravastatin Approved Pharma Competitive, Inhibitor 145

(68) Additional Compounds for LPL Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(3) Tocris Compounds for LPL Gene

Compound Action Cas Number
GSK 264220A Endothelial lipase and lipoprotein lipase inhibitor 685506-42-7
Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 96829-58-2
RHC 80267 Diacylglycerol lipase inhibitor 83654-05-1

(1) ApexBio Compounds for LPL Gene

Compound Action Cas Number
Atglistatin 1469924-27-3
genes like me logo Genes that share compounds with LPL: view

Transcripts for LPL Gene

Unigene Clusters for LPL Gene

Lipoprotein lipase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LPL Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: -
SP2: - -
SP3: - - - - - - - -
SP4:

Relevant External Links for LPL Gene

GeneLoc Exon Structure for
LPL
ECgene alternative splicing isoforms for
LPL

Expression for LPL Gene

mRNA expression in normal human tissues for LPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LPL Gene

This gene is overexpressed in Heart - Left Ventricle (x12.7), Adipose - Visceral (Omentum) (x9.6), Adipose - Subcutaneous (x8.1), and Breast - Mammary Tissue (x4.2).

Protein differential expression in normal tissues from HIPED for LPL Gene

This gene is overexpressed in Milk (48.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LPL Gene



SOURCE GeneReport for Unigene cluster for LPL Gene Hs.180878

genes like me logo Genes that share expression patterns with LPL: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LPL Gene

Orthologs for LPL Gene

This gene was present in the common ancestor of animals.

Orthologs for LPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LPL 35
  • 99.37 (n)
  • 99.79 (a)
LPL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lpl 35
  • 87.06 (n)
  • 92.41 (a)
mouse
(Mus musculus)
Mammalia Lpl 16
Lpl 36
  • 93 (a)
OneToOne
Lpl 35
  • 88.05 (n)
  • 93.04 (a)
cow
(Bos Taurus)
Mammalia LPL 36
  • 92 (a)
OneToOne
LPL 35
  • 88.56 (n)
  • 92.21 (a)
dog
(Canis familiaris)
Mammalia LPL 36
  • 91 (a)
OneToOne
LPL 35
  • 89.38 (n)
  • 92.36 (a)
oppossum
(Monodelphis domestica)
Mammalia LPL 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPL 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPL 36
  • 71 (a)
OneToOne
LPL 35
  • 73.36 (n)
  • 75.38 (a)
lizard
(Anolis carolinensis)
Reptilia LPL 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpl 35
  • 71.18 (n)
  • 72.47 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.165 35
zebrafish
(Danio rerio)
Actinopterygii lpl 36
  • 55 (a)
OneToMany
LPL (2 of 2) 36
  • 50 (a)
OneToMany
lpl 35
  • 62.95 (n)
  • 62.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1986 37
  • 36 (a)
CG6271 37
  • 33 (a)
CG6277 37
  • 32 (a)
CG5966 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
Species with no ortholog for LPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LPL Gene

ENSEMBL:
Gene Tree for LPL (if available)
TreeFam:
Gene Tree for LPL (if available)

Paralogs for LPL Gene

Paralogs for LPL Gene

(5) SIMAP similar genes for LPL Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with LPL: view

Variants for LPL Gene

Sequence variations from dbSNP and Humsavar for LPL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_004211 Lipoprotein lipase deficiency (LPL deficiency)
VAR_004212 Lipoprotein lipase deficiency (LPL deficiency)
VAR_004213 Lipoprotein lipase deficiency (LPL deficiency)
VAR_004214 Lipoprotein lipase deficiency (LPL deficiency)
VAR_004215 Lipoprotein lipase deficiency (LPL deficiency)

Structural Variations from Database of Genomic Variants (DGV) for LPL Gene

Variant ID Type Subtype PubMed ID
nsv522185 CNV Gain 19592680
nsv890625 CNV Gain 21882294
esv32767 CNV Loss 17666407
nsv890632 CNV Loss 21882294
nsv515694 CNV Gain 19592680

Variation tolerance for LPL Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LPL Gene

HapMap Linkage Disequilibrium report
LPL
Human Gene Mutation Database (HGMD)
LPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPL Gene

Disorders for LPL Gene

MalaCards: The human disease database

(39) MalaCards diseases for LPL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipoprotein lipase deficiency
  • lipoprotein lipase
hyperlipidemia, familial combined
  • combined hyperlipidemia, familial
hyperchylomicronemia, late-onset
  • hyperlipoproteinemia type v
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
hypertriglyceridemia
  • familial hypertriglyceridemia
- elite association - COSMIC cancer census association via MalaCards
Search LPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIPL_HUMAN
  • Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. {ECO:0000269 PubMed:10660334, ECO:0000269 PubMed:10787434, ECO:0000269 PubMed:11068186, ECO:0000269 PubMed:11099402, ECO:0000269 PubMed:11134145, ECO:0000269 PubMed:11441134, ECO:0000269 PubMed:12204001, ECO:0000269 PubMed:12641539, ECO:0000269 PubMed:12966036, ECO:0000269 PubMed:1400331, ECO:0000269 PubMed:1479292, ECO:0000269 PubMed:14984478, ECO:0000269 PubMed:15185149, ECO:0000269 PubMed:1521525, ECO:0000269 PubMed:15256764, ECO:0000269 PubMed:15877202, ECO:0000269 PubMed:1598907, ECO:0000269 PubMed:1619366, ECO:0000269 PubMed:1639392, ECO:0000269 PubMed:1674945, ECO:0000269 PubMed:1702428, ECO:0000269 PubMed:1730727, ECO:0000269 PubMed:1752947, ECO:0000269 PubMed:1907278, ECO:0000269 PubMed:1969408, ECO:0000269 PubMed:1975597, ECO:0000269 PubMed:2010533, ECO:0000269 PubMed:2038366, ECO:0000269 PubMed:2110364, ECO:0000269 PubMed:2121025, ECO:0000269 PubMed:7647785, ECO:0000269 PubMed:7806969, ECO:0000269 PubMed:7906986, ECO:0000269 PubMed:7912254, ECO:0000269 PubMed:7999071, ECO:0000269 PubMed:8077845, ECO:0000269 PubMed:8096693, ECO:0000269 PubMed:8135797, ECO:0000269 PubMed:8288243, ECO:0000269 PubMed:8301230, ECO:0000269 PubMed:8325986, ECO:0000269 PubMed:8486765, ECO:0000269 PubMed:8728326, ECO:0000269 PubMed:8778602, ECO:0000269 PubMed:8858123, ECO:0000269 PubMed:8872057, ECO:0000269 PubMed:8956048, ECO:0000269 PubMed:8956052, ECO:0000269 PubMed:9279761, ECO:0000269 PubMed:9298816, ECO:0000269 PubMed:9498099, ECO:0000269 PubMed:9662394, ECO:0000269 PubMed:9714430, ECO:0000269 PubMed:9719626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LPL Gene

human blood pressure QTL at or near the lipoprotein lipase gene,accounting for 52-73% of variation in systolic bp in the data set (Taiwanese population)

Relevant External Links for LPL

Genetic Association Database (GAD)
LPL
Human Genome Epidemiology (HuGE) Navigator
LPL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LPL
genes like me logo Genes that share disorders with LPL: view

Publications for LPL Gene

  1. Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis. (PMID: 1406652) Enerbaeck S. … Bjursell G. (Mol. Cell. Biol. 1992) 3 4 23 67
  2. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. (PMID: 20429872) Ariza M.J. … GonzA!lez-Santos P. (BMC Med. Genet. 2010) 3 23
  3. Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos. (PMID: 20410100) Voruganti V.S. … Comuzzie A.G. (Am. J. Clin. Nutr. 2010) 3 23
  4. Lipoprotein lipase and endothelial lipase in human testis and in germ cell neoplasms. (PMID: 19780863) Nielsen J.E. … Rajpert-De Meyts E. (Int. J. Androl. 2010) 3 23
  5. APOE, CETP and LPL genes show strong association with lipid levels in Greek children. (PMID: 19403283) Smart M.C. … Talmud P.J. (Nutr Metab Cardiovasc Dis 2010) 3 23

Products for LPL Gene

Sources for LPL Gene