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 di... See more...

Aliases for LPL Gene

Aliases for LPL Gene

  • Lipoprotein Lipase 2 3 4 5
  • EC 3.1.1.34 4 54
  • LIPD 3 4
  • EC 3.1.1 54
  • HDLCQ11 3

External Ids for LPL Gene

Previous HGNC Symbols for LPL Gene

  • LIPD

Previous GeneCards Identifiers for LPL Gene

  • GC08P019672
  • GC08P019859
  • GC08P019807
  • GC08P019841
  • 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 Hyperlipoproteinemia, Type I and Hyperlipidemia, Familial Combined, 3. Among its related pathways are Statin Pathway and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and carboxylic ester hydrolase activity. An important paralog of this gene is LIPG.

UniProtKB/Swiss-Prot Summary for LPL Gene

  • Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232).

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

Additional gene information for LPL Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LPL Gene

Genomics for LPL Gene

GeneHancer (GH) Regulatory Elements for LPL Gene

Promoters and enhancers for LPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J019939 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 753.5 +38.3 38284 4.8 ZBTB6 MYC L3MBTL2 MAX MAFK SP7 PRDM1 GLIS2 ZIC2 ZBTB8A LPL piR-47211-634 HSALNG0063781
GH08J019901 Enhancer 0.2 Ensembl 750.6 +0.1 84 1.6 LPL RF00017-6868 piR-48759-293 LOC105379309
GH08J019871 Enhancer 0.7 Ensembl ENCODE 13.1 -27.5 -27517 9.2 CTCF RAD21 POU5F1 REST MNT SCRT2 SMC3 ZNF664 ATF2 NANOG LPL ENSG00000253775 RF00017-6867 lnc-LPL-1
GH08J019175 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.5 -724.7 -724742 3.3 USF2 ZNF548 ZNF585B MNT OSR2 USF1 PRDM4 CTCF PSD3 SH2D4A LPL piR-31534-643 piR-38352-529 lnc-SH2D4A-5 ENSG00000253557
GH08J019967 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 5.3 +70.6 70584 10.2 ZNF140 MAFK INTS10 ENSG00000253775 SLC18A1 ATP6V1B2 LPL HSALNG0063781 piR-36575-070
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LPL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LPL gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COMP1
  • Ik-2
  • NF-kappaB1
  • Sp1
  • STAT1

Genomic Locations for LPL Gene

Genomic Locations for LPL Gene
chr8:19,901,717-19,967,259
(GRCh38/hg38)
Size:
65,543 bases
Orientation:
Plus strand
chr8:19,759,228-19,824,770
(GRCh37/hg19)
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 (PubMed:16179346, PubMed:26725083, PubMed:11893776) (Probable). Interacts with GPIHBP1 with 1:1 stoichiometry (PubMed:17997385, PubMed:27929370, PubMed:26725083, PubMed:27811232, PubMed:29899144, PubMed:30559189). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids (By similarity). Interaction with heparan sulfate proteoglycans is required to protect LPL against loss of activity (PubMed:11342582). Associates with lipoprotein particles in blood plasma (PubMed:11342582, PubMed:11893776). Interacts with LMF1 and SEL1L; interaction with SEL1L is required to prevent aggregation of newly synthesized LPL in the endoplasmic reticulum (ER), and for normal export of LPL from the ER to the extracellular space (PubMed:25066055). Interacts with SORL1; SORL1 acts as a sorting receptor, promoting LPL localization to endosomes and later to lysosomes, leading to degradation of newly synthesized LPL (PubMed:21385844).

    Three dimensional structures from OCA and Proteopedia for LPL Gene

neXtProt entry for LPL Gene

Selected DME Specific Peptides for LPL Gene

P06858:
  • DVARFINW
  • RLSPDDA
  • KCSHERS
  • DIESKFA
  • IRVKAGETQKKVIFC
  • WSDWWSSP
  • FEISLYGTVAESENIPFTLPE
  • FVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGG
  • KIRVKAG
  • NVIVVDW
  • CLSCRKNRCN
  • NVHLLGYSLGAHAAGIAGSLT
  • CHFNHSSKTF
  • SAGYTKLVG
  • VDWLSRA
  • NKTYSFL
  • RVIAERGLGDVDQLVKCSHERS
  • SHLQKGK
  • HLFIDSL
  • YTEVDIGELLMLKLKW
  • KMYLKTR
  • QMPYKVFHYQVK
  • GLDPAGP
  • RITGLDPAGPNFEYAEA
  • VKAGETQ

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

Antibody Products

  • Boster Bio Antibodies for LPL

Domains & Families for LPL Gene

Gene Families for LPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for LPL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34967 fis, clone NTONG2004690, highly similar to LIPOPROTEIN LIPASE (EC 3.1.1.34) (B3KRV7_HUMAN)
  • Lipoprotein lipase (LIPL_HUMAN)
  • LPL protein (Q6IAV0_HUMAN)
  • Lipoprotein lipase (Q8NEW3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06858

UniProtKB/Swiss-Prot:

LIPL_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
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

UniProtKB/Swiss-Prot Function:
Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.34; Evidence={ECO:0000269 PubMed:11342582, ECO:0000269 PubMed:11893776, ECO:0000269 PubMed:1371284, ECO:0000269 PubMed:16179346, ECO:0000269 PubMed:2340307, ECO:0000269 PubMed:26725083, ECO:0000269 PubMed:27578112, ECO:0000269 PubMed:29899144, ECO:0000269 PubMed:30559189};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The apolipoprotein APOC2 acts as a coactivator of LPL activity (By similarity). Ca(2+) binding promotes protein stability and formation of the active homodimer (PubMed:16179346). Interaction with GPIHBP1 protects LPL against inactivation by ANGPTL4 (PubMed:27929370, PubMed:29899144).
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

Enzyme Numbers (IUBMB) for LPL Gene

Phenotypes From GWAS Catalog for LPL Gene

Gene Ontology (GO) - Molecular Function for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004465 lipoprotein lipase activity IBA,ISS 10727238
GO:0004620 phospholipase activity IBA,ISS 10727238
GO:0004806 triglyceride lipase activity ISS 10727238
GO:0005102 signaling receptor binding IPI 10085125
GO:0005509 calcium ion binding IDA 16179346
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:
  • Lpl Lpl<tm1Bres>
  • Lpl Lpl<tm1Sem>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for LPL

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; Peripheral membrane protein; Extracellular side. Secreted. Secreted, extracellular space, extracellular matrix. Note=Newly synthesized LPL binds to cell surface heparan proteoglycans and is then released by heparanase. Subsequently, it becomes attached to heparan proteoglycan on endothelial cells (PubMed:27811232). Locates to the plasma membrane of microvilli of hepatocytes with triglyceride-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles (By similarity). {ECO:0000250 UniProtKB:P11151, ECO:0000269 PubMed:27811232}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LPL gene
Compartment Confidence
extracellular 5
plasma membrane 3
mitochondrion 2
peroxisome 2
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IDA 2340307
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 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

Interacting Proteins for LPL Gene

SIGNOR curated interactions for LPL Gene

Is activated by:
Is inactivated by:

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:0006631 fatty acid metabolic process IDA 11342582
GO:0006633 fatty acid biosynthetic process ISS,IBA --
GO:0006641 triglyceride metabolic process ISS 10727238
genes like me logo Genes that share ontologies with LPL: view

Drugs & Compounds for LPL Gene

(106) 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 Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 60
Fenofibrate Approved Pharma PPARalpha agonist 186
Glycerol Approved, Investigational Pharma 202
glycyrrhizin Approved, Experimental Pharma Inhibition, Inhibitor, Target, inducer 27
Omega-3-carboxylic acids Approved, Investigational Pharma Target, stimulator 0

(60) Additional Compounds for LPL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(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
XEN 445 Selective endothelial lipase inhibitor; orally bioavailable 1515856-92-4

(2) ApexBio Compounds for LPL Gene

Compound Action Cas Number
Atglistatin 1469924-27-3
Orlistat Lipase inhibitor for obesity treatment 96829-58-2
genes like me logo Genes that share compounds with LPL: view

Transcripts for LPL Gene

mRNA/cDNA for LPL Gene

CRISPR Products

Clone Products

  • Addgene plasmids for LPL

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LPL Gene



NURSA nuclear receptor signaling pathways regulating expression of LPL Gene:

LPL

SOURCE GeneReport for Unigene cluster for LPL Gene:

Hs.180878

mRNA Expression by UniProt/SwissProt for LPL Gene:

P06858-LIPL_HUMAN
Tissue specificity: Detected in blood plasma (PubMed:2340307, PubMed:11893776, PubMed:12641539). Detected in milk (at protein level) (PubMed:2340307).

Evidence on tissue expression from TISSUES for LPL Gene

  • Nervous system(5)
  • Heart(4.5)
  • Lung(4.1)
  • Muscle(3.6)
  • Thyroid gland(3.3)
  • Blood(3.1)
  • Kidney(2.6)
  • Liver(2.4)
  • Intestine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LPL: view

No data available for 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 33 32
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LPL 33 32
  • 89.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LPL 33 32
  • 88.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lpl 17 33 32
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Lpl 32
  • 87.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LPL 33
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LPL 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPL 33 32
  • 73.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPL 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpl 32
  • 71.18 (n)
zebrafish
(Danio rerio)
Actinopterygii lpl 33 32 32
  • 62.95 (n)
OneToMany
LPL (2 of 2) 33
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.165 32
fruit fly
(Drosophila melanogaster)
Insecta CG1986 34
  • 36 (a)
CG6271 34
  • 33 (a)
CG6277 34
  • 32 (a)
CG5966 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 22 (a)
ManyToMany
-- 33
  • 20 (a)
ManyToMany
Species where no ortholog for LPL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LPL: view image

Paralogs for LPL Gene

Paralogs for LPL Gene

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

  • LIPL_HUMAN
  • E5RHN7_HUMAN
  • E5RJI0_HUMAN
  • E5RJZ4_HUMAN
  • E7EW14_HUMAN
  • Q6IAV0_HUMAN
  • Q8NEW3_HUMAN
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 Variation AA Info Type
rs1059507 likely-benign, Hyperlipoproteinemia, type I 19,966,452(+) C/T 3_prime_UTR_variant
rs1059611 likely-benign, Hyperlipoproteinemia, type I 19,967,052(+) T/C 3_prime_UTR_variant
rs10645926 likely-benign, Hyperlipoproteinemia, type I 19,967,116(+) T/TT/TTT 3_prime_UTR_variant
rs1064797075 likely-pathogenic, Hyperapobetalipoproteinemia 19,955,969(+) T/C coding_sequence_variant, missense_variant
rs1121923 likely-benign, benign, Hyperlipoproteinemia, type I, not provided 19,951,924(+) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv32767 CNV loss 17666407
esv3616553 CNV gain 21293372
esv3891372 CNV gain 25118596
nsv1033511 CNV gain 25217958
nsv515694 CNV gain 19592680
nsv522185 CNV gain 19592680
nsv610759 CNV gain 21841781

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)

Additional Variant Information for LPL Gene

Human Gene Mutation Database (HGMD)
LPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LPL

SNP Genotyping and Copy Number Assay Products

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

Disorders for LPL Gene

MalaCards: The human disease database

(49) MalaCards diseases for LPL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type i
  • lipoprotein lipase deficiency
hyperlipidemia, familial combined, 3
  • fchl3
hyperlipidemia, familial combined, 1
  • fchl1
acute pancreatitis
  • acute necrotizing pancreatitis
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
- 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:11893776, 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:26725083, ECO:0000269 PubMed:27578112, ECO:0000269 PubMed:30559189, 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)

Additional Disease Information for LPL

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

Publications for LPL Gene

  1. Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos. (PMID: 20410100) Voruganti VS … Comuzzie AG (The American journal of clinical nutrition 2010) 3 23 43 56
  2. APOE, CETP and LPL genes show strong association with lipid levels in Greek children. (PMID: 19403283) Smart MC … Talmud PJ (Nutrition, metabolism, and cardiovascular diseases : NMCD 2010) 3 23 43 56
  3. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. (PMID: 20429872) Ariza MJ … González-Santos P (BMC medical genetics 2010) 3 23 43 56
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 23 43 56
  5. S447X polymorphism in the lipoprotein lipase gene and the adiponectin level in the general population: results from the Mima study. (PMID: 19556723) Fujiwara S … Sakane N (Journal of atherosclerosis and thrombosis 2009) 3 23 43 56

Products for LPL Gene

  • Addgene plasmids for LPL