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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PNLIP
pancreatic lipase
Chromosome 10 Β· 10q25.3
NCBI Gene: 5406Ensembl: ENSG00000175535.6HGNC: HGNC:9155UniProt: P16233
53PubMed Papers
21Diseases
2Drugs
18Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615positive regulation of triglyceride lipase activitylipid metabolic processlipase activityobesitypancreatic triacylglycerol lipase deficiencytype 2 diabetes mellitusinherited lipid metabolism disorder
✦AI Summary

PNLIP encodes pancreatic triglyceride lipase, a 56-kDa enzyme essential for dietary fat digestion in the small intestine 1. The enzyme preferentially hydrolyzes triglyceride esters at positions 1 and 3, producing 2-monoacylglycerol and free fatty acids, with substantially higher activity against emulsified substrates [UniProt]. Beyond its canonical digestive role, PNLIP mediates systemic lipotoxicity during acute pancreatitis: pancreatic lipase translocates into visceral adipose tissue, hydrolyzes adipocyte triglycerides, and generates excess nonesterified fatty acids that independently cause organ failure 2. PNLIP dysfunction is associated with chr10 pancreatitis through multiple mechanisms. Protease-sensitive variants (P245A, I265R, F300L, S304F, F314L) exhibit reduced stability upon exposure to pancreatic proteases and segregate with early-onset pancreatitis in families 34. Alternatively, misfolding variants such as T221M cause proteotoxicity: mutant protein aggregates in the endoplasmic reticulum, triggering ER stress and maladaptive unfolded protein responses that lead to acinar cell death and progressive pancreatic atrophy 5. Congenital pancreatic lipase deficiency results from PNLIP variants with impaired secretion 6. PNLIP expression is regulated by undercarboxylated osteocalcin through cAMP/PKA/ATF4 signaling 7, suggesting integration with systemic energy metabolism.

Sources cited
1
PNLIP encodes pancreatic triglyceride lipase, a 56-kDa enzyme essential for dietary fat digestion in the small intestine .
PMID: 1783385
2
Beyond its canonical digestive role, PNLIP mediates systemic lipotoxicity during acute pancreatitis: pancreatic lipase translocates into visceral adipose tissue, hydrolyzes adipocyte triglycerides, and generates excess nonesterified fatty acids that independently cause organ failure .
PMID: 31917686
3
Alternatively, misfolding variants such as T221M cause proteotoxicity: mutant protein aggregates in the endoplasmic reticulum, triggering ER stress and maladaptive unfolded protein responses that lead to acinar cell death and progressive pancreatic atrophy .
PMID: 36631248
4
Congenital pancreatic lipase deficiency results from PNLIP variants with impaired secretion .
PMID: 37926600
5
PNLIP expression is regulated by undercarboxylated osteocalcin through cAMP/PKA/ATF4 signaling , suggesting integration with systemic energy metabolism.
PMID: 31216497
Disease Associationsβ“˜21
obesityOpen Targets
0.60Moderate
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.55Moderate
type 2 diabetes mellitusOpen Targets
0.38Weak
inherited lipid metabolism disorderOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.30Weak
infertilityOpen Targets
0.26Weak
respiratory tract infectious disorderOpen Targets
0.25Weak
tooth diseaseOpen Targets
0.17Weak
metabolic syndromeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
pancreatitisOpen Targets
0.08Suggestive
polycystic ovary syndromeOpen Targets
0.07Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.07Suggestive
Hyperlipoproteinemia type 1Open Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
Pancreatic lipase deficiencyUniProt
Pathogenic Variants18
NM_000936.4(PNLIP):c.399del (p.Ala134fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 134
NM_000936.4(PNLIP):c.692-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000936.4(PNLIP):c.664del (p.Asp222fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 222
NM_000936.4(PNLIP):c.973_974del (p.Gly325fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 325
NM_000936.4(PNLIP):c.23C>G (p.Ser8Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 8
NM_000936.4(PNLIP):c.277G>T (p.Gly93Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 93
NM_000936.4(PNLIP):c.906_907del (p.Ala303fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 303
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter)Pathogenic
Pancreatic triacylglycerol lipase deficiency|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 419
NM_000936.4(PNLIP):c.1029T>G (p.Tyr343Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 343
NM_000936.4(PNLIP):c.817C>T (p.Arg273Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 273
NM_000936.4(PNLIP):c.1060+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_000936.4(PNLIP):c.99G>A (p.Trp33Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 33
NM_000936.4(PNLIP):c.571+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_000936.4(PNLIP):c.148del (p.Asp50fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 50
NM_000936.4(PNLIP):c.807G>A (p.Trp269Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 269
NM_000936.4(PNLIP):c.1214C>A (p.Ser405Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 405
NM_000936.4(PNLIP):c.460-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_000936.4(PNLIP):c.662C>T (p.Thr221Met)Pathogenic
Pancreatic triacylglycerol lipase deficiency
β˜†β˜†β˜†β˜†2017β†’ Residue 221
View on ClinVar β†—
Drug Targets2
CETILISTATApproved
Gastric lipase inhibitor
obesity
ORLISTATApproved
Gastric lipase inhibitor
obesity
Related Genes
DGAT1Protein interaction99%CELA3AProtein interaction99%CTRB2Protein interaction94%LIPAProtein interaction94%PLPP5Protein interaction93%PLPP4Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Ovary
48%
Lung
8%
Brain
1%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PNLIPDGAT1CELA3ACTRB2LIPAPLPP5PLPP4
PROTEIN STRUCTURE
Preparing viewer…
PDB1GPL Β· 2.01 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.98]
RankingsWhere PNLIP stands among ~20K protein-coding genes
  • #8,476of 20,598
    Most Researched53
  • #661of 1,025
    FDA-Approved Drug Targets2
  • #2,295of 5,498
    Most Pathogenic Variants18
  • #9,411of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedPNLIP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pancreatic triglyceride lipase mediates lipotoxic systemic inflammation.
PMID: 31917686
J Clin Invest Β· 2020
1.00
2
Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26.
PMID: 1783385
Genomics Β· 1991
0.90
3
Modeling protease-sensitive human pancreatic lipase mutations in the mouse ortholog.
PMID: 39265662
J Biol Chem Β· 2024
0.80
4
Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis.
PMID: 36631248
Gut Β· 2023
0.70
5
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
PMID: 37270400
Pancreatology Β· 2023
0.60