PNLIP: Pancreatic Lipase Gene
Key enzyme in dietary triglyceride digestion and lipid metabolism
Gene Information Card
| Symbol | PNLIP |
|---|---|
| Full Name | Pancreatic Lipase |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 5406 ncbi.nlm.nih.gov/gene/5406 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | P16233 |
| OMIM ID | 609916 |
| HGNC ID | 9156 |
| Aliases | PL, PTL, PNLIPD, pancreatic triacylglycerol lipase |
Description
The PNLIP gene encodes pancreatic lipase, an enzyme secreted by the pancreas into the duodenum. It catalyzes the hydrolysis of dietary triglycerides into monoglycerides and free fatty acids, essential for lipid absorption. Deficiency leads to malabsorption and steatorrhea.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic lipase deficiency | Loss-of-function mutations in PNLIP reduce or abolish enzyme activity, impairing fat digestion. | ClinVar, OMIM |
| Hyperlipasemia | Elevated serum pancreatic lipase levels, often due to pancreatic injury or inflammation, but not directly caused by PNLIP mutations. | ClinVar |
| Chronic pancreatitis | Altered PNLIP expression or activity may contribute to fat malabsorption in chronic pancreatitis. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 100.0 | High |
| Salivary gland | 0.3 | Low |
| Stomach | 0.1 | Low |
| Liver | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 0.0 | No detectable expression |
| MIA PaCa-2 (pancreatic cancer) | 0.0 | No detectable expression |
| BxPC-3 (pancreatic cancer) | 0.0 | No detectable expression |
| HPAF-II (pancreatic cancer) | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365C>T (p.Thr122Ile) | Missense | Rare | Reduced lipase activity; associated with pancreatic lipase deficiency |
| c.646G>A (p.Gly216Arg) | Missense | Rare | Impaired catalytic function; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish enzymatic activity, leading to fat malabsorption.
Gain of Function (GOF)
No gain-of-function mutations reported for PNLIP.
Dominant Negative (DN)
No dominant-negative mutations reported for PNLIP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fat digestion and absorption (Reactome: R-HSA-8963743)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
Pancreatic lipase (UniProt P16233) is a 465-amino-acid glycoprotein secreted by pancreatic acinar cells. It requires colipase for full activity in the presence of bile salts. The enzyme has a catalytic triad (Ser153, Asp177, His264) and a lid domain that controls substrate access. It is essential for efficient dietary fat digestion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNLIPRP1 Knockout HEK293 Cell Line | EDJ-KQ5497 | Human | 5407 | Details Get a Quote |
| PNLIPRP2 Knockout HEK293 Cell Line | EDJ-KQ5498 | Human | 5408 | Details Get a Quote |
| PNLIP Knockout HEK293 Cell Line | EDJ-KQ5499 | Human | 5406 | Details Get a Quote |
| PNLIPRP3 Knockout HEK293 Cell Line | EDJ-KQ7642 | Human | 119548 | Details Get a Quote |
| PNLIPRP2 Knockout HCT 116 Cell Line | EDJ-KQ27484 | Human | 5408 | Details Get a Quote |
| PNLIPRP2 Knockout A-549 Cell Line | EDJ-KQ28731 | Human | 5408 | Details Get a Quote |
| PNLIPRP2 Knockout HeLa Cell Line | EDJ-KQ28733 | Human | 5408 | Details Get a Quote |
| PNLIP Knockout HeLa Cell Line | EDJ-KQ54165 | Human | 5406 | Details Get a Quote |
| PNLIPRP1 Knockout HeLa Cell Line | EDJ-KQ54166 | Human | 5407 | Details Get a Quote |
| PNLIPRP3 Knockout HeLa Cell Line | EDJ-KQ58041 | Human | 119548 | Details Get a Quote |
| PNLIP Knockout A-549 Cell Line | EDJ-KQ62662 | Human | 5406 | Details Get a Quote |
| PNLIPRP1 Knockout A-549 Cell Line | EDJ-KQ62663 | Human | 5407 | Details Get a Quote |
| PNLIPRP3 Knockout A-549 Cell Line | EDJ-KQ66529 | Human | 119548 | Details Get a Quote |
| PNLIP Knockout HCT 116 Cell Line | EDJ-KQ71129 | Human | 5406 | Details Get a Quote |
| PNLIPRP1 Knockout HCT 116 Cell Line | EDJ-KQ71130 | Human | 5407 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
