PNLIPRP3 Gene: Pancreatic Lipase-Related Protein 3
A comprehensive biomedical overview of PNLIPRP3, including genomic context, expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | PNLIPRP3 |
|---|---|
| Full Name | Pancreatic Lipase-Related Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 119548 ncbi.nlm.nih.gov/gene/119548 |
| Ensembl ID | ENSG00000119915 |
| UniProt ID | Q17RR3 |
| OMIM ID | 614029 |
| HGNC ID | 23455 |
| Aliases | PLRP3, PLRP2-like, pancreatic lipase-related protein 3 |
Description
PNLIPRP3 encodes pancreatic lipase-related protein 3, a member of the pancreatic lipase gene family. It is predominantly expressed in the pancreas and is involved in lipid metabolism, though its exact physiological role is less characterized compared to other family members. The protein contains a conserved lipase domain and may participate in dietary fat digestion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Altered expression; potential biomarker | COSMIC: somatic mutations and expression changes in pancreatic tumors |
| Hyperlipidemia | Potential involvement in lipid metabolism | UniProt: inferred from lipase activity; limited clinical evidence |
| Pancreatitis | Possible role in pancreatic inflammation | ClinVar: rare variants reported; not well established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | High | Predominant expression |
| Salivary gland | Low | Minor expression |
| Stomach | Low | Detectable but low |
| Liver | Not detected | No significant expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | Moderate | Pancreatic cancer cell line |
| MIA PaCa-2 | Low | Pancreatic cancer cell line |
| HPAF-II | Moderate | Pancreatic cancer cell line |
| Capan-1 | Low | Pancreatic cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown; possibly damaging |
| c.890_891del (p.Glu297fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are likely loss-of-function, reducing lipase activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in PNLIPRP3.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity (GO:0004806) | • lipase activity (GO:0016298) |
| • lipid metabolic process (GO:0006629) | • extracellular space (GO:0005615) |
Pathways
• Fat digestion and absorption (Reactome: R-HSA-8964043)
• Triglyceride metabolism (KEGG: hsa00561)
Protein Summary
PNLIPRP3 is a 468-amino acid protein with a signal peptide and a conserved lipase domain. It is secreted and likely functions in lipid hydrolysis. Structural studies suggest it may have altered substrate specificity compared to pancreatic lipase (PNLIP). Its precise biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNLIPRP3 Knockout HEK293 Cell Line | EDJ-KQ7642 | Human | 119548 | Details Get a Quote |
| PNLIPRP3 Knockout HeLa Cell Line | EDJ-KQ58041 | Human | 119548 | Details Get a Quote |
| PNLIPRP3 Knockout A-549 Cell Line | EDJ-KQ66529 | Human | 119548 | Details Get a Quote |
| PNLIPRP3 Knockout HCT 116 Cell Line | EDJ-KQ74944 | Human | 119548 | Details Get a Quote |
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