|
|
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 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 |
GO:0006644 |
Biological process |
Phospholipid metabolic process |
ISS |
10727238 |
GO:0010744 |
Biological process |
Positive regulation of macrophage derived foam cell differentiation |
IC |
12573449 |
GO:0010884 |
Biological process |
Positive regulation of lipid storage |
TAS |
24608080 |
GO:0010886 |
Biological process |
Positive regulation of cholesterol storage |
IMP |
12573449 |
GO:0010890 |
Biological process |
Positive regulation of sequestering of triglyceride |
IMP |
12573449 |
GO:0016042 |
Biological process |
Lipid catabolic process |
IBA |
21873635 |
GO:0019433 |
Biological process |
Triglyceride catabolic process |
IBA |
21873635 |
GO:0019433 |
Biological process |
Triglyceride catabolic process |
IDA |
182536, 2110364, 2340307, 3973011, 11342582, 27578112, 30559189 |
GO:0034371 |
Biological process |
Chylomicron remodeling |
IC |
3973011 |
GO:0034371 |
Biological process |
Chylomicron remodeling |
IMP |
11342582 |
GO:0034372 |
Biological process |
Very-low-density lipoprotein particle remodeling |
IBA |
21873635 |
GO:0034372 |
Biological process |
Very-low-density lipoprotein particle remodeling |
IDA |
3973011 |
GO:0034375 |
Biological process |
High-density lipoprotein particle remodeling |
IBA |
21873635 |
GO:0042632 |
Biological process |
Cholesterol homeostasis |
IBA |
21873635 |
GO:0042632 |
Biological process |
Cholesterol homeostasis |
IMP |
25149060 |
GO:0045600 |
Biological process |
Positive regulation of fat cell differentiation |
IMP |
29794473 |
GO:0050729 |
Biological process |
Positive regulation of inflammatory response |
IC |
25149060 |
GO:0055096 |
Biological process |
Low-density lipoprotein particle mediated signaling |
IMP |
25149060 |
GO:0070328 |
Biological process |
Triglyceride homeostasis |
IBA |
21873635 |
GO:0070328 |
Biological process |
Triglyceride homeostasis |
IGI |
17018885 |
GO:0090197 |
Biological process |
Positive regulation of chemokine secretion |
IMP |
25149060 |
GO:0005615 |
Cellular component |
Extracellular space |
HDA |
16502470 |
GO:0005615 |
Cellular component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Cellular component |
Extracellular space |
IDA |
2340307, 11342582, 12573449, 27578112, 30559189 |
GO:0004465 |
Molecular function |
Lipoprotein lipase activity |
IBA |
21873635 |
GO:0004465 |
Molecular function |
Lipoprotein lipase activity |
IDA |
2110364, 2340307, 3973011, 11342582, 27578112, 30559189 |
GO:0004465 |
Molecular function |
Lipoprotein lipase activity |
IMP |
25149060 |
GO:0004465 |
Molecular function |
Lipoprotein lipase activity |
ISS |
10727238 |
GO:0004620 |
Molecular function |
Phospholipase activity |
IBA |
21873635 |
GO:0004620 |
Molecular function |
Phospholipase activity |
ISS |
10727238 |
GO:0004806 |
Molecular function |
Triglyceride lipase activity |
IDA |
182536, 12573449 |
GO:0004806 |
Molecular function |
Triglyceride lipase activity |
ISS |
10727238 |
GO:0005102 |
Molecular function |
Signaling receptor binding |
IPI |
10085125 |
GO:0005509 |
Molecular function |
Calcium ion binding |
IDA |
16179346, 30559189 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
20124439, 30559189 |
GO:0008201 |
Molecular function |
Heparin binding |
IDA |
2110364, 11342582, 12573449 |
GO:0016298 |
Molecular function |
Lipase activity |
IBA |
21873635 |
GO:0034185 |
Molecular function |
Apolipoprotein binding |
IBA |
21873635 |
GO:0034185 |
Molecular function |
Apolipoprotein binding |
IPI |
15178420 |
GO:0042803 |
Molecular function |
Protein homodimerization activity |
IDA |
16179346 |
GO:0043395 |
Molecular function |
Heparan sulfate proteoglycan binding |
IMP |
11342582 |
GO:0043495 |
Molecular function |
Protein membrane anchor |
TAS |
24608080 |
GO:0071813 |
Molecular function |
Lipoprotein particle binding |
IDA |
11342582 |
|
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). |
|
|
|
|
|
UniProt |
|
|
PDB |
|
|
|
|
Interactions |
| |
STRING |
MINT |
IntAct |
ENSP00000216117 |
P09601 |
P09601 |
|
| |
View interactions
|
|
| |
Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Myocardial Diseases |
|
Cardiomyopathy |
|
Coronary heart disease |
|
Hypertensive disease |
|
Arteriosclerosis |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Genetic Diseases |
|
Digestive System Diseases |
Pancreatitis |
|
Hepatitis C |
|
Endocrine System Diseases |
PCOS |
|
Neoplasms |
Prostate cancer |
|
Carcinoma |
|
Anaplastic Carcinoma |
|
Colonic Neoplasms |
|
Nutritional and Metabolic Diseases |
Hyperlipoproteinemia |
1511985, 1907278, 8288243, 8486765, 27573733, 2038366, 11134145, 2010533, 1872917, 1674945, 2110364, 27055971, 1639392, 1937490, 11334614, 8135797, 21518912, 2394828, 1562620, 1752947, 11893776, 1505655, 2349938, 8858123, 6645961, 1512512, 7906986, 1702428, 1400331, 15877202, 1598907, 16030523 |
Hyperlipidemia |
|
Hypercholesterolemia |
|
Obesity |
|
Dyslipidemias |
|
Metabolic Syndrome X |
|
Psychiatric/Brain disorders |
Schizophrenia |
|
|
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. |
|
|
|
|