LPL

Gene Information
 
Gene Symbol
LPL
 
Aliases
HDLCQ11, LIPD
 
Entrez Gene ID
 
Gene Name
Lipoprotein lipase
 
Chromosomal Location
8p21.3
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006631 Biological process Fatty acid metabolic process IDA 11342582, 27578112
GO:0006633 Biological process Fatty acid biosynthetic process IBA 21873635
GO:0006633 Biological process Fatty acid biosynthetic process IC 3973011
GO:0006633 Biological process Fatty acid biosynthetic process IDA 182536
GO:0006641 Biological process Triglyceride metabolic process ISS 10727238
Protein Information
 
Protein Name
Lipoprotein lipase
 
Function
Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232).
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00151 Lipase
PF01477 PLAT
Pathways
 
KEGG
 
Reactome
 

Glycerolipid metabolism
PPAR signaling pathway
Cholesterol metabolism
Alzheimer disease

 

Transcriptional regulation of white adipocyte differentiation
Assembly of active LPL and LIPC lipase complexes
Chylomicron remodeling
Retinoid metabolism and transport

Interactions
 
STRING MINT IntAct
ENSP00000216117 P09601 P09601
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Myocardial Diseases
Cardiomyopathy
Coronary heart disease
Hypertensive disease
Arteriosclerosis
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
SHBG,adiponectin 
Hyperandrogenemia 
 
Rotterdam criteria 
Related 
 
Comparison of 31 pairs revealed lower insulin sensitivity, hyperandrogenemia, and higher free 17-estradiol in PCOS. Abdominal adipose tissue volumes/distribution did not differ in the groups, but PCOS women had higher waist-to-hip ratio, enlarged adipocytes, reduced adiponectin, and lower LPL activity. 

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