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Aliases for LPL Gene

Aliases for LPL Gene

  • Lipoprotein Lipase 2 3
  • LIPD 3 4 6
  • EC 3.1.1.34 4 63
  • HDLCQ11 3 6
  • EC 3.1.1 63

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 familial lipoprotein lipase deficiency. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include receptor binding and triglyceride lipase 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

  • Lipoprotein lipase (LPL), like LIPG, is a vascular lipase, however it is not synthesized in endothelial cells. It is anchored to the capillary endothelium by proteoglycans and catalyzes the hydrolysis of triglycerides to release free fatty acids into the circulation. LPL therefore initiates the processing of triglyceride-rich lipoproteins such as chylomicrons and VLDL.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LPL Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn70 and Asn386
  • Modification sites at PhosphoSitePlus

Other Protein References for LPL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

Domains for LPL Gene

Graphical View of Domain Structure for InterPro Entry

P06858

UniProtKB/Swiss-Prot:

LIPL_HUMAN :
  • P06858
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

No data available for Gene Families for LPL Gene

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:0004465 lipoprotein lipase activity ISS 10727238
GO:0004620 phospholipase activity ISS 10727238
GO:0004806 triglyceride lipase activity ISS 10727238
GO:0005102 receptor binding IPI 10085125
GO:0005515 protein binding IPI 20124439
genes like me logo Genes that share ontologies with LPL: view
genes like me logo Genes that share phenotypes with LPL: view

Animal Models for LPL Gene

MGI Knock Outs for LPL:

Animal Model Products

No data available for Transcription Factor Targeting 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 4
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
peroxisome 2
plasma membrane 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 12573449
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with LPL: view

Pathways for LPL Gene

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

PCR Array Products

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 --
GO:0006633 fatty acid biosynthetic process ISS --
GO:0006641 triglyceride metabolic process ISS 10727238
GO:0006644 phospholipid metabolic process ISS 10727238
genes like me logo Genes that share ontologies with LPL: view

Compounds for LPL Gene

(2) 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]

(1) ApexBio Compounds for LPL Gene

Compound Action Cas Number
Atglistatin [1469924-27-3]

(1143) HMDB Compounds for LPL Gene

Compound Synonyms Cas Number PubMed IDs
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(1) Drugbank Compounds for LPL Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Tyloxapol
25301-02-4 target inhibitor

(121) Novoseek inferred chemical compound relationships for LPL Gene

Compound -log(P) Hits PubMed IDs
lipid 84.5 199
cholesterol 84.2 158
triacylglycerol 79 94
cholesterol ester 76.5 41
hind iii 76.4 60

(1) PharmGKB related drug/compound annotations for LPL Gene

Drug/compound Annotation
pravastatin CA
genes like me logo Genes that share compounds with LPL: view

Transcripts for LPL Gene

mRNA/cDNA for LPL Gene

Unigene Clusters for LPL Gene

Lipoprotein lipase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LPL

Primer Products

Flow Cytometry Products

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 (12.7), Adipose - Visceral (Omentum) (9.6), Adipose - Subcutaneous (8.1), and Breast - Mammary Tissue (4.2).

Protein differential expression in normal tissues for LPL Gene

This gene is overexpressed in Milk (48.1).

Integrated Proteomics: protein expression 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 expressions with LPL: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and 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
cow
(Bos Taurus)
Mammalia LPL 35
  • 88.56 (n)
  • 92.21 (a)
LPL 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LPL 35
  • 89.38 (n)
  • 92.36 (a)
LPL 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lpl 35
  • 88.05 (n)
  • 93.04 (a)
Lpl 16
Lpl 36
  • 93 (a)
OneToOne
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)
oppossum
(Monodelphis domestica)
Mammalia LPL 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPL 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPL 35
  • 73.36 (n)
  • 75.38 (a)
LPL 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPL 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpl 35
  • 71.18 (n)
  • 72.47 (a)
zebrafish
(Danio rerio)
Actinopterygii lpl 35
  • 62.95 (n)
  • 62.01 (a)
lpl 36
  • 55 (a)
OneToMany
LPL (2 of 2) 36
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.165 35
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
  • 22 (a)
ManyToMany
-- 36
  • 20 (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

Selected 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 MAF
rs247 -- 19,953,280(+) ACTGT(A/C)AGCAC intron-variant
rs248 -- 19,953,315(+) GAGGA(A/G)TTTAA synonymous-codon, reference
rs249 -- 19,953,495(+) ACAAA(C/T)TTTGT intron-variant
rs250 -- 19,953,512(+) CCACA(-/TG)TGTGT intron-variant
rs251 -- 19,953,649(+) ATAAT(C/T)ACACA intron-variant

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

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

(2) OMIM Diseases for LPL Gene (609708)

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.

(96) Novoseek inferred disease relationships for LPL Gene

Disease -log(P) Hits PubMed IDs
endogenous hypertriglyceridemia 93.3 76
hypertriglyceridemia 91.4 152
hypertriglyceridemias familial 83.1 18
hyperlipidemia familial combined 81.3 13
dyslipidemia 76.4 41

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

GeneTests
LPL
GeneReviews
LPL
Genetic Association Database (GAD)
LPL
Human Genome Epidemiology (HuGE) Navigator
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
  2. Human lipoprotein lipase. Analysis of the catalytic triad by site- directed mutagenesis of Ser-132, Asp-156, and His-241. (PMID: 1371284) Emmerich J. … Santamarina-Fojo S. (J. Biol. Chem. 1992) 3 4 23
  3. A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (PMID: 1619366) Ishimura-Oka K. … Oka K. (J. Lipid Res. 1992) 3 4 23
  4. Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (PMID: 1752947) Gotoda T. … Murase T. (J. Clin. Invest. 1991) 3 4 23
  5. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. (PMID: 1702428) Dichek H.L. … Brewer H.B. Jr. (J. Biol. Chem. 1991) 3 4 23

Products for LPL Gene

Sources for LPL Gene

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