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    PNLIP pancreatic lipase [ Homo sapiens (human) ]

    Gene ID: 5406, updated on 12-Aug-2018

    Summary

    Official Symbol
    PNLIPprovided by HGNC
    Official Full Name
    pancreatic lipaseprovided by HGNC
    Primary source
    HGNC:HGNC:9155
    See related
    Ensembl:ENSG00000175535 MIM:246600; Vega:OTTHUMG00000019103
    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 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (116545924..116567858)
    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pancreatic lipase deficiency
    MedGen: C3280527 OMIM: 614338 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of proneness to anger.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Acylglycerol degradation, organism-specific biosystem (from KEGG)
      Acylglycerol degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    • Acylglycerol degradation, conserved biosystem (from KEGG)
      Acylglycerol degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    • Digestion of dietary lipid, organism-specific biosystem (from REACTOME)
      Digestion of dietary lipid, organism-specific biosystemDietary lipids such as long-chain triacylglycerols and cholesterol esters are digested in the stomach and small intestine to yield long-chain fatty acids, monoacylglycerols, glycerol and cholesterol ...
    • Fat digestion and absorption, organism-specific biosystem (from KEGG)
      Fat digestion and absorption, organism-specific biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fat digestion and absorption, conserved biosystem (from KEGG)
      Fat digestion and absorption, conserved biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Glycerolipid metabolism, organism-specific biosystem (from KEGG)
      Glycerolipid metabolism, organism-specific biosystem
      Glycerolipid metabolism
    • Glycerolipid metabolism, conserved biosystem (from KEGG)
      Glycerolipid metabolism, conserved biosystem
      Glycerolipid metabolism
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
      Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
      Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • retinol biosynthesis, conserved biosystem (from BIOCYC)
      retinol biosynthesis, conserved biosystemGeneral Background Vitamin A is the name given to a family of related compounds from the |FRAME: Retinoids retinoid| group, including all-trans forms such as |FRAME: CPD-13524|, |FRAME: RETINAL| and...
    • retinol biosynthesis, organism-specific biosystem (from BIOCYC)
      retinol biosynthesis, organism-specific biosystem
      retinol biosynthesis
    • triacylglycerol degradation, organism-specific biosystem (from BIOCYC)
      triacylglycerol degradation, organism-specific biosystem
      triacylglycerol degradation

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pancreatic triacylglycerol lipase
    Names
    triacylglycerol acylhydrolase
    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_000936.3NP_000927.1  pancreatic triacylglycerol lipase precursor

      See identical proteins and their annotated locations for NP_000927.1

      Status: REVIEWED

      Source sequence(s)
      AL731653, AW873921, J05125
      Consensus CDS
      CCDS7594.1
      UniProtKB/Swiss-Prot
      P16233
      Related
      ENSP00000358223.2, OTTHUMP00000020564, ENST00000369221.2, OTTHUMT00000050524
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      116545924..116567858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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