PNLIP pancreatic lipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PNLIPprovided by HGNC
Official Full Name: pancreatic lipaseprovided by HGNC
Primary source: HGNC:HGNC:9155
See related: Ensembl:ENSG00000175535 MIM:246600; AllianceGenome:HGNC:9155
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PL; PTL; PNLIPD
Summary: This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
Expression: Restricted expression toward pancreas (RPKM 53831.3) See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (116545931..116567855)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (117439962..117461884)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (118305443..118327367)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.
Title: Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Title: Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatic lipase and its related proteins: where are we now?
Title: Pancreatic lipase and its related proteins: where are we now?
In vitro anti-obesity activity by pancreatic lipase inhibition - Simple HPLC approach using EVOO as natural substrate.
Title: In vitro anti-obesity activity by pancreatic lipase inhibition - Simple HPLC approach using EVOO as natural substrate.
Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress.
Title: Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress.
Pancreatic triglyceride lipase mediates lipotoxic systemic inflammation.
Title: Pancreatic triglyceride lipase mediates lipotoxic systemic inflammation.
Our data indicate that protease-sensitive PNLIP variants are novel genetic risk factors for the development of CP.
Title: Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.
Serum lipase subtype analysis cannot replace the standard lipase measurement for the diagnosis of acute pancreatitis, but the test demonstrated adequate sensitivity for use in triage or as an add-on test for serum lipase elevation.
Title: Clinical efficacy of serum lipase subtype analysis for the differential diagnosis of pancreatic and non-pancreatic lipase elevation.
Presence of methionine at position 221 in the PNLIP protein sequence causes protein misfolding and aggregation.
Title: A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.
All these findings support the use of YLLIP2 in enzyme replacement therapy for the treatment of pancreatic exocrine insufficiency, a pathological situation in which an acidification of intestinal contents occurs.
Title: An interfacial and comparative in vitro study of gastrointestinal lipases and Yarrowia lipolytica LIP2 lipase, a candidate for enzyme replacement therapy.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pancreatic triacylglycerol lipase deficiency MedGen: C3280527 OMIM: 614338 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-173626 (e-PCR)
- UniSTS:185399

SHGC-79423 (e-PCR)
- UniSTS:103319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity	IEA Inferred from Electronic Annotation more info
enables lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables triacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triacylglycerol lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in intestinal cholesterol absorption	IEA Inferred from Electronic Annotation more info
involved_in lipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pancreatic triacylglycerol lipase

Names: triacylglycerol acylhydrolase; triacylglycerol lipase

NP_000927.1

EC 3.1.1.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023311.2 RefSeqGene

Range

5002..26926

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000936.4 → NP_000927.1 pancreatic triacylglycerol lipase precursor

See identical proteins and their annotated locations for NP_000927.1

Status: REVIEWED

Source sequence(s)

AL731653

Consensus CDS

CCDS7594.1

UniProtKB/Swiss-Prot

P16233, Q5VSQ2

Related

ENSP00000358223.2, ENST00000369221.2

Conserved Domains (2) summary

cd01759
Location:355 → 465

PLAT_PL; PLAT/LH2 domain of pancreatic triglyceride lipase. Lipases hydrolyze phospholipids and triglycerides to generate fatty acids for energy production or for storage and to release inositol phosphates that act as second messengers. The central role of ...

pfam00151
Location:17 → 352

Lipase; Lipase