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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 disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
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.
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).
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 |
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 | -- |
SuperPathway | Contained pathways | ||
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1 | Statin Pathway |
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2 | Lipoprotein metabolism | ||
3 | Metabolism of fat-soluble vitamins | ||
4 | Metabolism |
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5 | Parkinson disease |
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 |
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 | |
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Arachidic acid |
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506-30-9 |
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Diglycerides Group A |
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Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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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 |
Compound | Action | Cas Number |
---|---|---|
Atglistatin | 1469924-27-3 | |
Orlistat | Lipase inhibitor for obesity treatment | 96829-58-2 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
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SP1: | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LPL 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | LPL 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | LPL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lpl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lpl 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | LPL 31 |
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OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LPL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LPL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LPL 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lpl 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | lpl 30 31 |
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OneToMany | |
LPL (2 of 2) 31 |
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OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.165 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG1986 32 |
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CG6271 32 |
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CG6277 32 |
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CG5966 31 |
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OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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ManyToMany | |
-- 31 |
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ManyToMany |
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 |
Disorder | Aliases | PubMed IDs |
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hyperlipoproteinemia, type i |
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hyperlipidemia, familial combined, 3 |
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familial lipoprotein lipase deficiency |
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hyperlipidemia, familial combined, 1 |
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acute pancreatitis |
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