PNLIPRP1: Pancreatic Lipase Related Protein 1
A member of the pancreatic lipase gene family involved in lipid metabolism and potential roles in pancreatic disease.
Gene Information Card
| Symbol | PNLIPRP1 |
|---|---|
| Full Name | Pancreatic Lipase Related Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 5407 ncbi.nlm.nih.gov/gene/5407 |
| Ensembl ID | ENSG00000138107 |
| UniProt ID | P54315 |
| OMIM ID | 604423 |
| HGNC ID | 9156 |
| Aliases | PLRP1, PLRP, PNLIPRP |
Description
PNLIPRP1 encodes a member of the pancreatic lipase gene family. The encoded protein is a pancreatic lipase-related protein that may play a role in lipid metabolism, though its catalytic activity is reduced compared to classical pancreatic lipase. It is primarily expressed in the pancreas and has been implicated in pancreatic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Altered expression of PNLIPRP1 may contribute to tumorigenesis; downregulation observed in some pancreatic ductal adenocarcinomas. | PMID: 12374773; COSMIC |
| Chronic pancreatitis | Reduced PNLIPRP1 expression may affect lipid digestion and pancreatic function. | PMID: 15652704 |
| Pancreatitis | Potential role in inflammatory response; expression changes noted in acute pancreatitis models. | PMID: 18596892 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 68.5 | High |
| Salivary gland | 0.8 | Low |
| Stomach | 0.3 | Low |
| Liver | 0.1 | Not detected |
| Small intestine | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 0.5 | Low expression |
| MIA PaCa-2 | 0.3 | Low expression |
| BxPC-3 | 0.4 | Low expression |
| HPDE | 1.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance; rare variant |
| c.200G>A (p.Gly67Asp) | missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may reduce lipase activity, potentially affecting lipid digestion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity (GO:0004806) | • lipid catabolic process (GO:0016042) |
| • extracellular space (GO:0005615) | • extracellular region (GO:0005576) |
Pathways
• Lipid digestion
• mobilization
• and transport (Reactome: R-HSA-192456)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
PNLIPRP1 encodes a 465-amino acid protein (UniProt P54315) that belongs to the pancreatic lipase family. It is secreted by pancreatic acinar cells and has reduced lipase activity compared to PNLIP. The protein may function in lipid metabolism and has been implicated in pancreatic cancer and pancreatitis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNLIPRP1 Knockout HEK293 Cell Line | EDJ-KQ5497 | Human | 5407 | Details Get a Quote |
| PNLIPRP1 Knockout HeLa Cell Line | EDJ-KQ54166 | Human | 5407 | Details Get a Quote |
| PNLIPRP1 Knockout A-549 Cell Line | EDJ-KQ62663 | Human | 5407 | Details Get a Quote |
| PNLIPRP1 Knockout HCT 116 Cell Line | EDJ-KQ71130 | Human | 5407 | Details Get a Quote |
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