LPL Gene (Protein Coding)

Lipoprotein Lipase

GC08P019901
GIFtS:
50
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
  • Phospholipase A1 3 4
  • EC 3.1.1.34 4 50
  • LIPD 3 4
  • EC 3.1.1.32 4
  • EC 3.1.1 50
  • HDLCQ11 3
  • LPL 5

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 water-soluble vitamins and cofactors. 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).

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 Pubs

Download GeneHancer 2017 data
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 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 253.5 +37.9 37884 4 MYC ZNF600 ZIC2 CEBPB TBP ZNF341 SP2 ZNF316 KLF16 MAFK LPL HSALNG0063778 lnc-CSGALNACT1-2 piR-47211-634 SLC18A1
GH08J019901 Enhancer 0.2 Ensembl 250.7 +0.1 84 1.6 LOC107986921 LPL RF00017-6321 piR-48759-293 HSALNG0063778 lnc-CSGALNACT1-2 SLC18A1
GH08J019871 Enhancer 0.8 Ensembl ENCODE 13.2 -27.5 -27517 9.2 ZNF654 ATF2 CTCF REST RAD21 SMC3 SPI1 ZNF664 MEIS2 POU5F1 LPL ENSG00000253775 HSALNG0063774 RF00017-6320 INTS10
GH08J019175 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.5 -724.7 -724742 3.3 ZNF585B CTCF ZNF189 BHLHE40 ZNF548 PRDM4 RAD21 OSR2 USF2 MNT PSD3 SH2D4A LPL HSALNG0063742 piR-31534-643 lnc-SH2D4A-5 HSALNG0063740 LOC100128993 HSALNG0063737-001 ENSG00000253557
GH08J019965 Enhancer 0.5 Ensembl ENCODE dbSUPER 4.6 +63.6 63584 1.4 SLC18A1 LPL HSALNG0063781 HSALNG0063784
- 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

Latest Assembly
chr8:19,901,717-19,967,259
(GRCh38/hg38)
Size:
65,543 bases
Orientation:
Plus strand

Previous Assembly
chr8:19,796,764-19,824,770
(GRCh37/hg19 by Entrez Gene)
Size:
28,007 bases
Orientation:
Plus strand

chr8:19,759,228-19,824,769
(GRCh37/hg19 by Ensembl)
Size:
65,542 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 Structure • Gene Density

RefSeq DNA sequence for LPL Gene

Proteins for LPL Gene

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  • 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

Protein Expression for LPL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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

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

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  6. Cell Lines for research

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

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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 4
mitochondrion 3
peroxisome 3
nucleus 3
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

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

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 IBA,ISS --
GO:0006641 triglyceride metabolic process ISS 10727238
genes like me logo Genes that share ontologies with LPL: view

Drugs & Compounds for LPL Gene

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(104) 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 63
Fenofibrate Approved Pharma PPARalpha agonist 190
Glycerol Approved, Investigational Pharma 207
glycyrrhizin Approved, Experimental Pharma Target, inducer 28
Omega-3-carboxylic acids Approved, Investigational Pharma Target, stimulator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
 506-30-9
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
 257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
 91125-76-7, 29541-66-0, 51621-26-2

(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

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for LPL Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LPL Gene

mRNA expression in normal human tissues for LPL Gene
mRNA expression by BioGPS for LPL GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Lung(4.2)
  • Muscle(3.7)
  • Thyroid gland(3.7)
  • Kidney(3.2)
  • Blood(3)
  • Intestine(3)
  • Liver(2.8)
  • Pancreas(2.5)
  • Stomach(2.4)
  • Adrenal gland(2.4)
  • Skin(2.2)
  • Spleen(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
genes like me logo Genes that share expression patterns with LPL: view

Primer products for research

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 29 30
  • 99.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LPL 29 30
  • 89.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LPL 29 30
  • 88.56 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lpl 29 16 30
  • 88.05 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lpl 29
  • 87.06 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LPL 30
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LPL 30
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LPL 29 30
  • 73.36 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LPL 30
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lpl 29
  • 71.18 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lpl 29 30
  • 62.95 (n)
 OneToMany
LPL (2 of 2) 30
  • 50 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.165 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1986 31
  • 36 (a)
CG6271 31
  • 33 (a)
CG6277 31
  • 32 (a)
CG5966 30
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 22 (a)
 ManyToMany
-- 30
  • 20 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for LPL

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

Products:

  1. SNP Genotyping and Copy Number Assays for research

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
1030688 Pathogenic: Hyperlipidemia, familial combined, LPL related 19,960,977(+) A/T
NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) 		NONSENSE
1030689 Uncertain Significance: Hyperlipoproteinemia, type I 19,953,367(+) C/T
NM_000237.3(LPL):c.487C>T (p.His163Tyr) 		MISSENSE
1030690 Likely Pathogenic: Hyperlipoproteinemia, type I 19,956,056(+) A/G
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) 		MISSENSE
763853 Likely Benign: not provided 19,939,200(+) G/C
NM_000237.2:c.-241G>C
851236 Pathogenic: not provided 19,955,901(+) T/G
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LPL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
LPL

SNP Genotyping and Copy Number Assays for research

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

Disorders for LPL Gene

MalaCards: The human disease database

(66) MalaCards diseases for LPL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type i
  • lipoprotein lipase deficiency
hyperlipidemia, familial combined, 3
  • fchl3
familial lipoprotein lipase deficiency
  • familial chylomicronemia syndrome
hyperlipidemia, familial combined, 1
  • fchl1
acute pancreatitis
  • acute necrotizing pancreatitis
- 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
  • 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 variants 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 variants 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LPL: view

Publications for LPL Gene

  1. 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 22 40
  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 MJ … González-Santos P (BMC medical genetics 2010) 3 22 40
  3. 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 22 40
  4. [Relationship of gallstone formation after radical gastrectomy with the polymorphisms of apolipoprotein B Xba I and lipoprotein lipase Hind III gene]. (PMID: 20099167) Lu WB … Niu WX (Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2010) 3 22 40
  5. Associations for lipoprotein lipase and peroxisome proliferator-activated receptor-gamma gene and coronary artery disease in an Indian population. (PMID: 20430250) AshokKumar M … Emmanuel C (Archives of medical research 2010) 3 22 40

ExternalLinks

View latest publications for LPL gene in Mastermind

Products for LPL Gene