LIPK (Lipase K)
Gene encoding a member of the mammalian lipase family involved in epidermal lipid metabolism
Gene Information Card
| Symbol | LIPK |
|---|---|
| Full Name | Lipase Family Member K |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 114836 ncbi.nlm.nih.gov/gene/114836 |
| Ensembl ID | ENSG00000165832 |
| UniProt ID | Q5VXJ0 |
| OMIM ID | 609352 |
| HGNC ID | 23415 |
| Aliases | bA57C11.1, LIPK1 |
Description
LIPK encodes a member of the mammalian lipase family, specifically expressed in the epidermis. The protein functions as a triacylglycerol lipase involved in lipid metabolism of keratinocytes, contributing to skin barrier formation and maintenance. It is also implicated in epidermal differentiation and may play a role in inflammatory skin disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atopic dermatitis | Altered LIPK expression may disrupt epidermal lipid barrier, increasing susceptibility to inflammation | NCBI Gene, PubMed: 21829368 |
| Ichthyosis vulgaris | Potential involvement in lipid processing defects leading to dry, scaly skin | OMIM: 609352, PubMed: 21829368 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 3.2 | Low |
| Oral mucosa | 2.8 | Low |
| Vagina | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | High expression in immortalized keratinocytes |
| NHEK (normal human epidermal keratinocytes) | 18.2 | Primary keratinocyte expression |
| A431 (epidermoid carcinoma) | 8.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.524G>A (p.Arg175His) | Missense | <0.01% | Predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • triacylglycerol lipase activity (GO:0004806) | • lipid metabolic process (GO:0006629) |
| • epidermis development (GO:0008544) | • extracellular region (GO:0005576) |
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-8978868)
• Epidermal differentiation complex pathway
Protein Summary
Lipase K is a 377-amino acid protein belonging to the pancreatic lipase family. It contains a conserved catalytic triad (Ser-Asp-His) typical of serine lipases. The protein is secreted and localizes to the extracellular space, where it hydrolyzes triglycerides to free fatty acids and glycerol, essential for skin barrier lipid composition. Expression is largely restricted to stratified squamous epithelia, particularly the granular layer of the epidermis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPK Knockout HEK293 Cell Line | EDJ-KQ14084 | Human | 643414 | Details Get a Quote |
| LIPK Knockout HeLa Cell Line | EDJ-KQ60545 | Human | 643414 | Details Get a Quote |
| LIPK Knockout A-549 Cell Line | EDJ-KQ69016 | Human | 643414 | Details Get a Quote |
| LIPK Knockout HCT 116 Cell Line | EDJ-KQ77373 | Human | 643414 | Details Get a Quote |
