PNLIP (pancreatic lipase)

2012-11-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
PL,PNLIPD,PTL
FUSION GENES

Other Information

Locus ID:

NCBI: 5406
MIM: 246600
HGNC: 9155
Ensembl: ENSG00000175535

Variants:

dbSNP: 5406
ClinVar: 5406
TCGA: ENSG00000175535
COSMIC: PNLIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175535ENST00000369221P16233

Expression (GTEx)

0
5000
10000
15000
20000
25000
30000
35000

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerolipid metabolismKEGGhsa00561
Metabolic pathwaysKEGGhsa01100
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Acylglycerol degradationKEGGhsa_M00098
Acylglycerol degradationKEGGM00098
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Digestion of dietary lipidREACTOMER-HSA-192456
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380813812024Pancreatic lipase and its related proteins: where are we now?0
380813812024Pancreatic lipase and its related proteins: where are we now?0
365835222023In vitro anti-obesity activity by pancreatic lipase inhibition - Simple HPLC approach using EVOO as natural substrate.0
372704002023Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.3
365835222023In vitro anti-obesity activity by pancreatic lipase inhibition - Simple HPLC approach using EVOO as natural substrate.0
372704002023Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.3
343732042021Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress.6
343732042021Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress.6
319176862020Pancreatic triglyceride lipase mediates lipotoxic systemic inflammation.60
319176862020Pancreatic triglyceride lipase mediates lipotoxic systemic inflammation.60
307894182019Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.20
307894182019Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.20
272432302016Clinical efficacy of serum lipase subtype analysis for the differential diagnosis of pancreatic and non-pancreatic lipase elevation.1
272432302016Clinical efficacy of serum lipase subtype analysis for the differential diagnosis of pancreatic and non-pancreatic lipase elevation.1
258626082015A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.18

Citation

Dessen P

PNLIP (pancreatic lipase)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52946/pnlip