PNLIP (pancreatic lipase)

2012-11-01  

Identity

HGNC
PNLIP
LOCATION
10q25.3
LOCUSID
5406
ALIAS
PL,PNLIPD,PTL
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
239186032013Integration of metabolomics and transcriptomics revealed a fatty acid network exerting growth inhibitory effects in human pancreatic cancer.77
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
223932622012Glycomic and proteomic profiling of pancreatic cyst fluids identifies hyperfucosylated lactosamines on the N-linked glycans of overexpressed glycoproteins.21
172696612007Probing the opening of the pancreatic lipase lid using site-directed spin labeling and EPR spectroscopy.12
164319122006Val-407 and Ile-408 in the beta5'-loop of pancreatic lipase mediate lipase-colipase interactions in the presence of bile salt micelles.8
258626082015A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.8
113935342001Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits.7
145801942003Time-resolved fluorescence allows selective monitoring of Trp30 environmental changes in the seven-Trp-containing human pancreatic lipase.7
242620942014Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.6
252393472014Abnormal serum pancreatic enzymes, but not pancreatitis, are associated with an increased risk of malignancy in patients with intraductal papillary mucinous neoplasms.6

Citation

Dessen P

PNLIP (pancreatic lipase)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

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