LIPC (Lipase C, Hepatic Type)
Hepatic Lipase Gene: Role in Lipid Metabolism and Cardiovascular Disease
Gene Information Card
| Symbol | LIPC |
|---|---|
| Full Name | Lipase C, Hepatic Type |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 3990 ncbi.nlm.nih.gov/gene/3990 |
| Ensembl ID | ENSG00000138081 |
| UniProt ID | P11150 |
| OMIM ID | 151670 |
| HGNC ID | 6619 |
| Aliases | HL, HTGL, HDLCQ12 |
Description
The LIPC gene encodes hepatic lipase, a lipolytic enzyme synthesized primarily in the liver. It is secreted and binds to the surface of liver sinusoids and endothelial cells. Hepatic lipase plays a critical role in the metabolism of high-density lipoproteins (HDL) and intermediate-density lipoproteins (IDL), influencing plasma lipid levels and cardiovascular risk. Mutations in LIPC are associated with altered HDL cholesterol levels and hepatic lipase deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatic Lipase Deficiency | Loss-of-function mutations in LIPC impair triglyceride hydrolysis and HDL remodeling, leading to elevated HDL cholesterol and triglyceride-rich lipoproteins. | ClinVar, OMIM |
| Hyperalphalipoproteinemia | Increased HDL cholesterol due to reduced hepatic lipase activity from LIPC variants. | OMIM, ClinVar |
| Coronary Artery Disease | Polymorphisms in LIPC (e.g., rs1800588) modulate HDL levels and cardiovascular risk. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal Gland | 2.1 | Low |
| Kidney | 1.0 | Low |
| Testis | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| Huh-7 | 14.8 | Hepatoma cell line |
| Primary Hepatocytes | 13.2 | Normal liver cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Cys) | Missense | <0.1% | Reduced catalytic activity; associated with hyperalphalipoproteinemia |
| c.514C>T (p.Arg172Trp) | Missense | <0.1% | Loss of function; hepatic lipase deficiency |
| c.1069G>A (p.Gly357Arg) | Missense | <0.1% | Impaired secretion; elevated HDL cholesterol |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg111Cys, p.Arg172Trp) reduce or abolish lipolytic activity, leading to hepatic lipase deficiency and elevated HDL.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LIPC.
Dominant Negative (DN)
Not documented; LIPC mutations typically follow recessive or codominant inheritance.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity | • heparin binding |
| • lipid metabolic process | • chylomicron remnant clearance |
| • high-density lipoprotein particle remodeling |
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• HDL remodeling (Reactome: R-HSA-8963898)
Protein Summary
Hepatic lipase (UniProt P11150) is a 499-amino acid glycoprotein with a molecular weight of approximately 53 kDa. It contains a catalytic triad (Ser-153, Asp-178, His-259) and a heparin-binding domain. The enzyme hydrolyzes triglycerides and phospholipids in lipoproteins, facilitating the conversion of HDL2 to HDL3 and promoting IDL uptake by the liver. It is essential for normal lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPC Knockout HEK293 Cell Line | EDJ-KQ2798 | Human | 3990 | Details Get a Quote |
| LIPC Knockout HeLa Cell Line | EDJ-KQ53796 | Human | 3990 | Details Get a Quote |
| LIPC Knockout A-549 Cell Line | EDJ-KQ62274 | Human | 3990 | Details Get a Quote |
| LIPC Knockout HCT 116 Cell Line | EDJ-KQ70758 | Human | 3990 | Details Get a Quote |
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