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
- 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. Among its related pathways are Adipogenesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 for LPL Gene
-
The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL) (PubMed:27578112). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity).
-
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
- Monarch Initiative
- Search for LPL at DataMed
- Search for LPL at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 | 2.3 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 653.5 | +38.1 | 38055 | 1.5 | KLF17 MZF1 ZNF2 ZNF335 GLIS2 ZNF366 EGR2 ZNF202 SP3 ZBTB11 | LPL GC08M019933 LOC105379309 | |
| GH08J019175 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 5.5 | -724.7 | -724745 | 3.3 | CTCF USF1 ZNF189 USF2 MNT OSR2 ZNF585B ZNF548 PRDM4 | PSD3 SH2D4A LPL GC08P019197 ENSG00000253557 LOC105379301 | |
| GH08J020074 | Enhancer | 0.6 | Ensembl ENCODE | 5.6 | +172.7 | 172723 | 0.9 | HLF NR2F2 | LPL LOC105379311 GC08M019958 | |
| GH08J019965 | Enhancer | 0.4 | ENCODE dbSUPER | 4.6 | +63.7 | 63732 | 0.7 | SLC18A1 LPL GC08M019958 LOC105379311 | ||
| GH08J019940 | Promoter/Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 0.3 | +39.0 | 38968 | 0.2 | MXI1 REST MNT MYC MGA EZH2 | GC08M019933 LOC105379309 LPL |
- 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
- STAT1
- NF-kappaB1
- c-Jun
- ATF-2
- Sp1
- Ik-2
- COMP1
Regulatory Element Products
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 Entrez Gene
- 8p21.3 by HGNC
- 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 (By similarity). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids (By similarity). Interacts with GPIHBP1 (PubMed:17997385). Interacts with SEL1L and LMF1 (PubMed:25066055).
Protein Expression for LPL Gene
Post-translational modifications for LPL Gene
- Tyrosine nitration after lipopolysaccharide (LPS) challenge down-regulates the lipase activity.
- Glycosylation at posLast=386386 and posLast=7070
- Modification sites at PhosphoSitePlus
Other Protein References for LPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for LPL (Lipoprotein Lipase/LPL)
-
Custom Antibody ServicesOriGene Antibodies for LPL
- Novus Biologicals Antibodies for LPL
-
Abcam antibodies for LPL
- Invitrogen Antibodies for LPL (AFLGC-LPL)
- GeneTex LPL Antibody for LPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for LPL
Protein Products
- R&D Systems Proteins and Enzymes for LPL (Lipoprotein Lipase/LPL)
-
OriGene Purified Proteins for LPL
- Search Origene for MassSpec and Protein Over-expression Lysates for LPL
- Origene Custom Protein Services for LPL
- ProSpec Recombinant Proteins for LPL
- Search GeneTex for Proteins for LPL
-
Abcam proteins for LPL
Assay Products
-
Abcam assays for LPL
No data available for DME Specific Peptides for LPL Gene
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
Suggested Antigen Peptide Sequences for LPL Gene
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:
- The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL) (PubMed:27578112). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
- 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:0005515 | protein binding | IPI | 20124439 |
Phenotypes for LPL Gene
- MGI mutant phenotypes for LPL:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for LPL:
-
- G0/1 arrest
- Increased G1 DNA content
- Decreased shRNA abundance
- Decreased p24 protein expression
- Decreased Tat-dependent transcription
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased NF-kappaB reporter expression
- Increased LDL uptake
- Decreased free cholesterol
- Increased viability
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LPL
-
CRISPR Products
-
OriGene CRISPR knockouts for LPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LPL
- Applied Biological Materials CRISPR for LPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LPL
- GenScript: Design CRISPR guide RNA sequences 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)
- hsa-mir-148b-3p (MIRT019335)
- hsa-let-7b-5p (MIRT032343)
- bta-mir-223 (MIRT054012)
- hsa-mir-6738-3p (MIRT616689)
- hsa-mir-544a (MIRT616690)
- hsa-mir-767-5p (MIRT616691)
- hsa-mir-4793-3p (MIRT616692)
- hsa-mir-3130-3p (MIRT616693)
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
- GenScript: Custom all cDNA clones Services for LPL
- 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
- genomics-online: cdna clones - Search results for 118 available Lipoprotein Lipase gene related products
- Overview of 118 available Lipoprotein Lipase gene related products
- orf clones - Search results for 118 available Lipoprotein Lipase gene related products
- Overview of 118 available Lipoprotein Lipase gene related products
- Applied Biological Materials Clones for LPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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; Lipid-anchor, GPI-anchor. Secreted. Note=Locates to the plasma membrane of microvilli of hepatocytes with triacyl-glycerol-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| peroxisome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,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 | Metabolism |
.37
|
|
| 3 | Lipoprotein metabolism | ||
| 4 | Metabolism of fat-soluble vitamins | ||
| 5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for LPL Gene
10 BioSystems pathways for LPL Gene
12 Reactome pathways for LPL Gene
1 PharmGKB pathway for LPL Gene
5 KEGG pathways for LPL Gene
Interacting Proteins for LPL Gene
GPS-Prot Interaction Network for LPL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | TAS | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006633 | fatty acid biosynthetic process | ISS | -- |
| GO:0006641 | triglyceride metabolic process | ISS | 10727238 |
| GO:0006644 | phospholipid metabolic process | ISS | 10727238 |
No data available for SIGNOR curated interactions for LPL Gene
Drugs & Compounds for LPL Gene
(104) Drugs for LPL Gene - From: DrugBank, PharmGKB, ClinicalTrials, 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 | 54 | |
| Fenofibrate | Approved | Pharma | PPARalpha agonist | 173 | ||
| Glycerol | Approved, Investigational | Pharma | 175 | |||
| glycyrrhizin | Approved, Experimental | Pharma | Inhibition, Inhibitor, Target, inducer | 22 | ||
| 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 |
Drug Products
Transcripts for LPL Gene
mRNA/cDNA for LPL Gene
- (1) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (338) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000520959 560 bps (uc064ktm.1)
- ENST00000524029 629 bps (uc064ktn.1)
- ENST00000522701 559 bps (uc064kto.1)
- ENST00000311322 3846 bps (uc003wzk.5)
- ENST00000519773 554 bps (uc064ktp.1)
Unigene Clusters for LPL Gene
- Lipoprotein lipase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LPL
- Applied Biological Materials CRISPR for LPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LPL
- GenScript: Design CRISPR guide RNA sequences 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
- GenScript: Custom all cDNA clones Services for LPL
- 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
- genomics-online: cdna clones - Search results for 118 available Lipoprotein Lipase gene related products
- Overview of 118 available Lipoprotein Lipase gene related products
- orf clones - Search results for 118 available Lipoprotein Lipase gene related products
- Overview of 118 available Lipoprotein Lipase gene related products
- Applied Biological Materials Clones for LPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP4: |
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
NURSA nuclear receptor signaling pathways regulating expression of LPL Gene:
LPLSOURCE GeneReport for Unigene cluster for LPL Gene:
Hs.180878Evidence 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
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 and mRNA Expression by UniProt/SwissProt 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LPL 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LPL 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Lpl 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lpl 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | LPL 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LPL 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LPL 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LPL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lpl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lpl 34 33 33 |
|
OneToMany | |
| LPL (2 of 2) 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.165 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1986 35 |
|
|
|
| CG6271 35 |
|
|
|||
| CG6277 35 |
|
|
|||
| CG5966 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
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
(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
| 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/TTT | 3_prime_UTR_variant | |
| rs1064797075 | likely-pathogenic, Hyperlipidemia, familial combined | 19,955,969(+) | T/C | coding_sequence_variant, missense_variant | |
| rs1121923 | likely-benign, Hyperlipoproteinemia, type I | 19,951,924(+) | G/A | coding_sequence_variant, 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
(44) MalaCards diseases for LPL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperlipoproteinemia, type i |
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| hyperlipidemia, familial combined |
|
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| acute pancreatitis |
|
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| familial lipoprotein lipase deficiency |
|
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| hyperlipoproteinemia, type v |
|
Search LPL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LIPL_HUMAN- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. {ECO:0000269 PubMed:10660334, ECO:0000269 PubMed:10787434, ECO:0000269 PubMed:11068186, ECO:0000269 PubMed:11099402, ECO:0000269 PubMed:11134145, ECO:0000269 PubMed:11441134, ECO:0000269 PubMed:12204001, ECO:0000269 PubMed:12641539, ECO:0000269 PubMed:12966036, ECO:0000269 PubMed:1400331, ECO:0000269 PubMed:1479292, ECO:0000269 PubMed:14984478, ECO:0000269 PubMed:15185149, ECO:0000269 PubMed:1521525, ECO:0000269 PubMed:15256764, ECO:0000269 PubMed:15877202, ECO:0000269 PubMed:1598907, ECO:0000269 PubMed:1619366, ECO:0000269 PubMed:1639392, ECO:0000269 PubMed:1674945, ECO:0000269 PubMed:1702428, ECO:0000269 PubMed:1730727, ECO:0000269 PubMed:1752947, ECO:0000269 PubMed:1907278, ECO:0000269 PubMed:1969408, ECO:0000269 PubMed:1975597, ECO:0000269 PubMed:2010533, ECO:0000269 PubMed:2038366, ECO:0000269 PubMed:2110364, ECO:0000269 PubMed:2121025, ECO:0000269 PubMed:27578112, 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
Publications for LPL Gene
- 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 22 44 58
- 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 44 58
- 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 44 58
- Genetic polymorphism of S447X lipoprotein lipase (LPL) and the susceptibility to hypertension. (PMID: 19664517) Salah A … Al Lahham Y (Journal of critical care 2009) 3 22 44 58
- 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 22 44 58
Products for LPL Gene
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Sources for LPL Gene
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