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PNLIP pancreatic lipase [ Homo sapiens (human) ]

Gene ID: 5406, updated on 24-Nov-2020

Summary

Official Symbol
PNLIPprovided by HGNC
Official Full Name
pancreatic lipaseprovided by HGNC
Primary source
HGNC:HGNC:9155
See related
Ensembl:ENSG00000175535 MIM:246600
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

Genomic context

See PNLIP in Genome Data Viewer
Location:
10q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (116545931..116567855)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118305428..118327367)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pancreatic lipase related protein 3 Neighboring gene high mobility group box 3 pseudogene 8 Neighboring gene RNA, U6 small nuclear 1090, pseudogene Neighboring gene pancreatic lipase pseudogene 1 Neighboring gene pancreatic lipase related protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of proneness to anger.
GeneReviews: Not available
Pancreatic lipase deficiency
MedGen: C3280527 OMIM: 614338 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride lipase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
intestinal cholesterol absorption IEA
Inferred from Electronic Annotation
more info
 
lipid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid digestion TAS
Traceable Author Statement
more info
 
lipid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of triglyceride lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pancreatic triacylglycerol lipase
Names
triacylglycerol acylhydrolase
triacylglycerol lipase
NP_000927.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_023311.1 RefSeqGene

    Range
    5009..26943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000936.4NP_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
    Related
    ENSP00000358223.2, ENST00000369221.2
    Conserved Domains (2) summary
    cd01759
    Location:355465
    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:17352
    Lipase; Lipase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    116545931..116567855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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