LIPE (Hormone-Sensitive Lipase) Gene
A key regulator of lipid metabolism and energy homeostasis
Gene Information Card
| Symbol | LIPE |
|---|---|
| Full Name | Lipase E, Hormone Sensitive |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 3991 ncbi.nlm.nih.gov/gene/3991 |
| Ensembl ID | ENSG00000105568 |
| UniProt ID | Q05469 |
| OMIM ID | 151750 |
| HGNC ID | 6621 |
| Aliases | HSL, LHS, HSL-R, AOMS4 |
Description
The LIPE gene encodes hormone-sensitive lipase (HSL), a key enzyme in lipid metabolism that catalyzes the hydrolysis of triacylglycerols, diacylglycerols, monoacylglycerols, and cholesteryl esters. HSL is highly expressed in adipose tissue, where it mediates lipolysis in response to hormonal signals such as catecholamines and insulin. It also plays roles in steroidogenesis and insulin secretion. Mutations in LIPE are associated with metabolic disorders including obesity, type 2 diabetes, and familial combined hyperlipidemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Reduced lipolysis due to LIPE variants leads to increased fat storage and adipocyte hypertrophy. | OMIM #601665; PMID: 12594517 |
| Type 2 Diabetes | Impaired HSL activity contributes to insulin resistance and altered lipid partitioning. | OMIM #125853; PMID: 15668383 |
| Familial Combined Hyperlipidemia | LIPE mutations cause defective cholesteryl ester hydrolysis, elevating plasma lipids. | OMIM #144250; PMID: 10861295 |
| Lipodystrophy | Loss of HSL function disrupts adipose tissue maintenance, leading to partial lipodystrophy. | OMIM #608709; PMID: 21411741 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 58.3 | High |
| Adrenal gland | 12.1 | Medium |
| Testis | 8.9 | Medium |
| Liver | 2.4 | Low |
| Skeletal muscle | 1.8 | Low |
| Pancreas | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes (differentiated) | 45.2 | High expression in mature fat cells |
| HepG2 | 3.1 | Low expression |
| HeLa | 1.2 | Very low |
| HEK293 | 0.8 | Very low |
| MCF7 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374Ter) | Nonsense | 0.01% | Loss of function; truncation of HSL |
| c.953A>G (p.Asn318Ser) | Missense | 0.05% | Reduced catalytic activity; associated with hyperlipidemia |
| c.1465G>A (p.Glu489Lys) | Missense | 0.02% | Impaired cholesteryl ester hydrolysis |
| c.1780delC (p.Leu594CysfsTer12) | Frameshift | <0.01% | Loss of function; linked to lipodystrophy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg374Ter, p.Leu594CysfsTer12) lead to truncated or absent HSL protein, reducing lipolytic capacity and promoting lipid accumulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LIPE.
Dominant Negative (DN)
No dominant-negative mutations described; LIPE acts as a monomer and haploinsufficiency is not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lipolysis in adipocytes (Reactome: R-HSA-163560)
• Chylomicron-mediated lipid transport (Reactome: R-HSA-174800)
• Metabolism of lipids (Reactome: R-HSA-556833)
• cAMP-mediated signaling (Reactome: R-HSA-163615)
Protein Summary
Hormone-sensitive lipase (HSL) is a 775-amino acid protein with a catalytic domain belonging to the serine hydrolase family. It is activated by phosphorylation via PKA in response to catecholamines and inhibited by insulin. HSL hydrolyzes triacylglycerols, diacylglycerols, and cholesteryl esters, releasing free fatty acids and glycerol. It is essential for energy mobilization from adipose tissue and for steroid hormone production in the adrenal gland and gonads. Structural studies reveal a regulatory module that controls access to the active site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPE Knockout HEK293 Cell Line | EDJ-KQ1418 | Human | 3991 | Details Get a Quote |
| LIPE Knockout A-549 Cell Line | EDJ-KQ20956 | Human | 3991 | Details Get a Quote |
| LIPE Knockout HCT 116 Cell Line | EDJ-KQ20957 | Human | 3991 | Details Get a Quote |
| LIPE Knockout HeLa Cell Line | EDJ-KQ20958 | Human | 3991 | Details Get a Quote |
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