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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
External Ids for LPL Gene
- HGNC: 6677
- Entrez Gene: 4023
- Ensembl: ENSG00000175445
- OMIM: 609708
- UniProtKB: P06858
Previous HGNC Symbols for LPL Gene
- LIPD
Previous GeneCards Identifiers for LPL Gene
- GC08P019672
- GC08P019859
- GC08P019807
- GC08P019841
- GC08P018336
- GC08P019759
Summaries 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 Lipoprotein metabolism and Signaling by GPCR. 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). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (PubMed:7592706, PubMed:12032167). 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).
-
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).
Additional gene information for LPL Gene
- HGNC(6677)
- Entrez Gene(4023)
- Ensembl(ENSG00000175445)
- OMIM(609708)
- UniProtKB(P06858)
- Open Targets Platform(ENSG00000175445)
- Monarch Initiative
- Search for LPL at DataMed
- Search for LPL at HumanCyc
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 Pubs
Promoters and enhancers for LPL Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LPL
- 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:
-
- 8p21.3 by HGNC
- 8p21.3 by Entrez Gene
- 8p21.3 by Ensembl
LPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
- NX_P06858 (NX_P06858-1)
- Modification sites at PhosphoSitePlus
Other Protein References for LPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents LPL Antibody
- Creative Diagnostics Anti-Lipoprotein lipase monoclonal antibody, clone 4D9
-
Custom Antibody ServicesOriGene Antibodies for LPL
- AM06325SU-N
- AP23394PU-N
- BM5512
- CF503783
- CF503784
- CF503785
- CF503786
- CF503787
- CF503789
- CF503790
- CF503791
- CF503792
- CF503793
- CF503810
- CF503880
- TA319012
- TA503783
- TA503783S
- TA503784
- TA503784S
- TA503785
- TA503785S
- TA503786
- TA503786S
- TA503787
- TA503787S
- TA503789
- TA503789S
- TA503790
- TA503790S
- TA503791
- TA503791S
- TA503792
- TA503792S
- TA503793
- TA503793S
- TA503810
- TA503810S
- TA503880
- TA503880S
- Novus Biologicals Antibodies for LPL
-
Abcam antibodies for LPL
- Invitrogen Antibodies for LPL (AFLGC-LPL)
-
Santa Cruz Biotechnology (SCBT) Antibodies for LPL
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for LPL
- Origene Custom Protein Services for LPL
- ProSpec Recombinant Proteins for LPL
-
Signalway Proteins for LPL
-
Abcam proteins for LPL
Assay Products
- antibodies-online: Show 75 available Lipoprotein Lipase Elisa Kits ranked by validation data
- Compare Top Lipoprotein Lipase Elisa Kits
-
Quality Products:
- ABIN1115794
- ABIN366804
- ABIN414399
- ABIN5521099
- ABIN5668642
- ABIN1571036
- ABIN5592336
- ABIN455717
- ABIN510997
- ABIN5656439
- ABIN1115796
- ABIN367674
- ABIN415412
- ABIN1571037
- ABIN4947821
- ABIN5521100
- ABIN5669845
- ABIN5592337
- ABIN1055678
- ABIN5656442
- ABIN1115795
- ABIN368241
- ABIN416129
- ABIN1571038
- ABIN5521101
- ABIN5670507
- ABIN578719
- ABIN5592339
- ABIN5656441
- ABIN4970859
- ABIN857663
- ABIN1140827
-
Abcam assays 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
Protein Domains for LPL Gene
- InterPro:
- Blocks:
-
- Lipase, active site
- Lipoxygenase, LH2 domain
- Lipase
- Lipoprotein lipase signature
- ProtoNet:
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- Family:
-
- Belongs to the AB hydrolase superfamily. Lipase family.
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). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (PubMed:7592706, PubMed:12032167). 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:12032167, 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, ECO:0000269|PubMed:7592706};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+); Xref=Rhea:RHEA:18689, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:57643, ChEBI:CHEBI:57875; EC=3.1.1.32; Evidence={ECO:0000269|PubMed:12032167, ECO:0000269|PubMed:7592706};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + di-(9Z)-octadecenoylglycerol + H(+); Xref=Rhea:RHEA:38575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75945; Evidence={ECO:0000269|PubMed:12032167};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)-octadecenoate + (9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:38699, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:74669, ChEBI:CHEBI:76083; Evidence={ECO:0000269|PubMed:7592706};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tributanoylglycerol + H2O = butanoate + dibutanoylglycerol + H(+); Xref=Rhea:RHEA:40475, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:35020, ChEBI:CHEBI:76478; Evidence={ECO:0000269|PubMed:7592706};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:41384, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64563, ChEBI:CHEBI:72999; Evidence={ECO:0000269|PubMed:12032167};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- The apolipoprotein APOC2 acts as a coactivator of LPL activity (PubMed:12032167). 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). Inhibited by NaCl (PubMed:12032167).
- 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
| 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 | signaling receptor binding | IPI | 10085125 |
| GO:0005509 | calcium ion binding | IDA | 16179346 |
Phenotypes for LPL Gene
- MGI mutant phenotypes for LPL:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for LPL:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased G1 DNA content
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance
- Decreased NF-kappaB reporter expression
- G0/1 arrest
- Decreased p24 protein expression
- Decreased Tat-dependent transcription
- Increased free cholesterol
- Decreased LDL uptake
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LPL - Select products 50% OFF >
- * LPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for LPL
miRNA for LPL Gene
- miRTarBase miRNAs that target LPL
-
- hsa-miR-155-5p (MIRT001542)
- hsa-miR-138-5p (MIRT005491)
- hsa-miR-29a-3p (MIRT005584)
- mmu-miR-467b-5p (MIRT007043)
- hsa-miR-148b-3p (MIRT019335)
- hsa-let-7b-5p (MIRT032343)
- bta-miR-223 (MIRT054012)
- mmu-miR-207 (MIRT582630)
- mmu-miR-1894-5p (MIRT582631)
- mmu-miR-343 (MIRT582632)
- mmu-miR-712-5p (MIRT589628)
- mmu-miR-1896 (MIRT589629)
- mmu-miR-129-5p (MIRT593817)
- mmu-miR-546 (MIRT593818)
- mmu-miR-1938 (MIRT593819)
- mmu-miR-3110-5p (MIRT598428)
- mmu-miR-5125 (MIRT598429)
- mmu-miR-3096b-5p (MIRT598430)
- mmu-miR-105 (MIRT598431)
- mmu-miR-291a-3p (MIRT598432)
- mmu-miR-294-3p (MIRT598433)
- mmu-miR-295-3p (MIRT598434)
- mmu-miR-302a-3p (MIRT598435)
- mmu-miR-302b-3p (MIRT598436)
- mmu-miR-302d-3p (MIRT598437)
- mmu-miR-1186a (MIRT598438)
- hsa-miR-6738-3p (MIRT616689)
- hsa-miR-544a (MIRT616690)
- hsa-miR-767-5p (MIRT616691)
- hsa-miR-4793-3p (MIRT616692)
- hsa-miR-3130-3p (MIRT616693)
- mmu-miR-29a-3p (MIRT732443)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LPL
- Browse OriGene Inhibitory RNA Products For LPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPL
Clone Products
- Applied Biological Materials (abm): Clones for LPL - Select products 50% OFF >
- * LPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LPL
- Addgene plasmids for LPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LPL
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| mitochondrion | 3 |
| peroxisome | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for LPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Statin Pathway |
.71
|
|
| 2 | Lipoprotein metabolism | ||
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | Metabolism |
.40
|
|
| 5 | Parkinson disease | ||
Pathways by source for LPL Gene
10 BioSystems pathways for LPL Gene
12 Reactome pathways for LPL Gene
1 PharmGKB pathway for LPL Gene
4 KEGG pathways for LPL Gene
1 R&D Systems pathway for LPL Gene
SIGNOR curated interactions 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 | -- |
| GO:0006641 | triglyceride metabolic process | ISS | 10727238 |
Drugs & Compounds for LPL Gene
(103) 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 | 61 | |
| Fenofibrate | Approved | Pharma | PPARalpha agonist | 185 | ||
| Glycerol | Approved, Investigational | Pharma | 197 | |||
| glycyrrhizin | Approved, Experimental | Pharma | Inhibitor, Inhibition, Target, inducer | 26 | ||
| Omega-3-carboxylic acids | Approved, Investigational | Pharma | Target, stimulator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Arachidic acid |
|
506-30-9 |
|
|||
| Diglycerides Group A |
|
|
||||
| Diglycerides Group B |
|
|
||||
| Diglycerides Group C |
|
|
||||
| Diglycerides Group D |
|
|
(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 |
Drug Products
- ApexBio compounds for LPL
Transcripts for LPL Gene
mRNA/cDNA for LPL Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000519773 554 nts (view in UCSC)
- ENST00000520959 560 nts (view in UCSC)
- ENST00000521994 566 nts (view in UCSC)
- ENST00000522701 559 nts (view in UCSC)
- ENST00000523696 463 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LPL - Select products 50% OFF >
- * LPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for LPL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LPL
- Browse OriGene Inhibitory RNA Products For LPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPL
Clone Products
- Applied Biological Materials (abm): Clones for LPL - Select products 50% OFF >
- * LPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LPL
- Addgene plasmids for LPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LPL
| 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
Expression for LPL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Subcutaneous White Adipocytes Subcutaneous White Adipose
- Visceral White Preadipocytes Visceral White Adipose
- Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
- Subcutaneous White Adipocytes Facial Subcutaneous White Adipose
- Visceral White Adipocytes Visceral White Adipose
-
Limb (Muscoskeletal System)
- Bone Marrow Stromal Cells Pelvic Girdle
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
- Autopod
- Stylopod
-
Brain (Nervous System)
- Adult Dopaminergic Neurons Ventral Tegmental Area
- Cerebellum
- Choroid Plexus
- Midbrain tegmentum
- Bone (Muscoskeletal System)
- Neural Tube (Nervous System)
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Adult Dopaminergic Neurons Ventral Tegmental Area
- GABAergic Amacrine Cells Inner Nuclear Layer
- Cartilage (Muscoskeletal System)
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Mesenchymal Stem Cells
- Bone Marrow Stromal Cells Pelvic Girdle
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Gut Tube (Gastrointestinal Tract)
- Heart (Cardiovascular System)
- Lung (Respiratory System)
- NULL (Uncategorized)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LPL
SOURCE GeneReport for Unigene cluster for LPL Gene:
Hs.180878mRNA 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(4.6)
- Lung(4.3)
- Muscle(3.9)
- Thyroid gland(3.8)
- Blood(3.4)
- Kidney(3.3)
- Intestine(3.2)
- Liver(3.1)
- Pancreas(2.7)
- Stomach(2.6)
- Adrenal gland(2.5)
- Skin(2.5)
- Spleen(2.3)
- Bone(2.2)
- Gall bladder(2.1)
- Bone marrow(2.1)
- Lymph node(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for LPL
-
OriGene qPCR primer pairs and template standards for LPL
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LPL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LPL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LPL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Lpl 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Lpl 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | LPL 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LPL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LPL 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LPL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lpl 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | lpl 30 31 |
|
OneToMany | |
| LPL (2 of 2) 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.165 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1986 32 |
|
|
|
| CG6271 32 |
|
|
|||
| CG6277 32 |
|
|
|||
| CG5966 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for LPL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
(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
Variants for LPL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LPL Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 643218 | Pathogenic: not provided | 19,939,481(+) | G/A | NONSENSE | |
| 718076 | Likely Benign: not provided | 19,955,893(+) | C/T | SYNONYMOUS_VARIANT | |
| 718874 | Likely Benign: not provided | 19,955,863(+) | C/T | SYNONYMOUS_VARIANT | |
| 719805 | Conflicting Interpretations: Hyperlipoproteinemia, type I; not provided | 19,951,864(+) | A/C | SYNONYMOUS_VARIANT | |
| 721152 | Benign/Likely Benign: Hyperlipoproteinemia, type I; not provided | 19,953,336(+) | T/C | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPL Gene
Disorders for LPL Gene
(65) MalaCards diseases for LPL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperlipoproteinemia, type i |
|
|
| hyperlipidemia, familial combined, 3 |
|
|
| familial lipoprotein lipase deficiency |
|
|
| hyperlipidemia, familial combined, 1 |
|
|
| acute pancreatitis |
|
Search LPL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LIPL_HUMAN- Hyperlipoproteinemia 1 (HLPP1) [MIM:238600]: An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. 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:1371284, 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: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:8956048, ECO:0000269 PubMed:8956052, ECO:0000269 PubMed:9279761, ECO:0000269 PubMed:9298816, ECO:0000269 PubMed:9498099, ECO:0000269 PubMed:9714430, ECO:0000269 PubMed:9719626}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hyperlipidemia, familial combined, 3 (FCHL3) [MIM:144250]: A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. FCHL3 inheritance is autosomal dominant. {ECO:0000269 PubMed:12966036, ECO:0000269 PubMed:7647785, ECO:0000269 PubMed:8728326, ECO:0000269 PubMed:8872057, ECO:0000269 PubMed:9662394, ECO:0000269 PubMed:9719626}. Note=Disease susceptibility is associated with variations 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
- Open Targets Platform
Publications for LPL Gene
- 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 41
- Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PMID: 20160193) Weissglas-Volkov D … Pajukanta P (Circulation. Cardiovascular genetics 2010) 3 23 41
- Apolipoprotein A5 and lipoprotein lipase interact to modulate anthropometric measures in Hispanics of Caribbean origin. (PMID: 19629056) Smith CE … Ordovás JM (Obesity (Silver Spring, Md.) 2010) 3 23 41
- 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 41
- Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. (PMID: 19489872) Lamon-Fava S … Herrington DM (Clinical endocrinology 2010) 3 23 41
ExternalLinks
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Sources for LPL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6)