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    PNLIP pancreatic lipase [ Homo sapiens (human) ]

    Gene ID: 5406, updated on 27-Nov-2024

    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
    NEW
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    Genomic context

    See PNLIP in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene pancreatic lipase related protein 3 Neighboring gene high mobility group box 3 pseudogene 8 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:118211885-118212416 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:118240088-118240799 Neighboring gene NANOG hESC enhancer GRCh37_chr10:118301731-118302261 Neighboring gene RNA, U6 small nuclear 1090, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr10:118347975-118348179 Neighboring gene pancreatic lipase pseudogene 1 Neighboring gene pancreatic lipase related protein 1 Neighboring gene uncharacterized LOC124902510

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 lipoprotein lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipase A1 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 cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in high-density lipoprotein particle remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intestinal cholesterol absorption IEA
    Inferred from Electronic Annotation
    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
     
    involved_in triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023311.2 RefSeqGene

      Range
      5002..26926
      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, Q5VSQ2
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      117439962..117461884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)