LIPG: Endothelial Lipase - Key Regulator of HDL Metabolism and Vascular Biology
Comprehensive genomic and proteomic overview of LIPG, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | LIPG |
|---|---|
| Full Name | lipase G, endothelial type |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 9388 ncbi.nlm.nih.gov/gene/9388 |
| Ensembl ID | ENSG00000101670 |
| UniProt ID | Q9Y5X9 |
| OMIM ID | 603684 |
| HGNC ID | 6623 |
| Aliases | EL, EDL, endothelial lipase |
Description
LIPG encodes endothelial lipase, a member of the triglyceride lipase family. It is primarily synthesized by endothelial cells and plays a critical role in lipoprotein metabolism, particularly in the hydrolysis of high-density lipoprotein (HDL) phospholipids, thereby modulating HDL cholesterol levels and influencing vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| High-density lipoprotein cholesterol level QTL | LIPG variants alter HDL phospholipid hydrolysis, affecting HDL-C levels | GWAS and candidate gene studies (PMID: 17989338, 19060911) |
| Coronary artery disease | Reduced LIPG activity is associated with higher HDL-C but paradoxically increased CAD risk in some studies | Mendelian randomization studies (PMID: 27789557) |
| Hyperalphalipoproteinemia | Loss-of-function mutations in LIPG lead to elevated HDL-C | Case reports and family studies (PMID: 19060911) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 2.1 | Low |
| Lung | 1.5 | Low |
| Adipose tissue | 0.8 | Not detected |
| Heart | 0.6 | Not detected |
| Thyroid | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 12.3 | High expression in primary endothelial cells |
| HepG2 | 0.2 | Very low expression |
| A549 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Thr195Ile) | missense | 0.1% in gnomAD | Reduced lipolytic activity; associated with elevated HDL-C |
| c.1118G>A (p.Gly373Glu) | missense | 0.05% in gnomAD | Loss of function; linked to hyperalphalipoproteinemia |
| c.1330C>T (p.Arg444Ter) | nonsense | 0.01% in gnomAD | Premature truncation; complete loss of enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish phospholipase activity, leading to elevated HDL-C levels.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; LIPG functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HDL metabolism (Reactome: R-HSA-8963888)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Chylomicron-mediated lipid transport (Reactome: R-HSA-174800)
Protein Summary
Endothelial lipase (UniProt Q9Y5X9) is a 500-amino-acid glycoprotein secreted by endothelial cells. It functions as a phospholipase with minor triglyceride lipase activity, preferentially hydrolyzing HDL phospholipids. The protein contains a conserved catalytic triad (Ser169, Asp193, His274) and a lid domain regulating substrate access. It is anchored to the cell surface via heparan sulfate proteoglycans and is released upon heparin treatment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPG Knockout HEK293 Cell Line | EDJ-KQ6570 | Human | 9388 | Details Get a Quote |
| LIPG Knockout HCT 116 Cell Line | EDJ-KQ30776 | Human | 9388 | Details Get a Quote |
| LIPG Knockout HeLa Cell Line | EDJ-KQ55149 | Human | 9388 | Details Get a Quote |
| LIPG Knockout A-549 Cell Line | EDJ-KQ63629 | Human | 9388 | Details Get a Quote |
