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    Pnpla3 patatin-like phospholipase domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 116939, updated on 3-Dec-2024

    Summary

    Official Symbol
    Pnpla3provided by MGI
    Official Full Name
    patatin-like phospholipase domain containing 3provided by MGI
    Primary source
    MGI:MGI:2151796
    See related
    Ensembl:ENSMUSG00000041653 AllianceGenome:MGI:2151796
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Adpn
    Summary
    Enables 1-acylglycerol-3-phosphate O-acyltransferase activity; anion binding activity; and triacylglycerol lipase activity. Involved in glycerolipid metabolic process; long-chain fatty acid metabolic process; and response to dietary excess. Located in lipid droplet and membrane. Is expressed in left lung; olfactory epithelium; and right lung. Used to study metabolic dysfunction-associated steatotic liver disease. Human ortholog(s) of this gene implicated in coronary artery disease; liver disease (multiple); and type 2 diabetes mellitus. Orthologous to human PNPLA3 (patatin like phospholipase domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 202.0), mammary gland adult (RPKM 115.5) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pnpla3 in Genome Data Viewer
    Location:
    15 E2; 15 39.78 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (84052017..84073720)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (84167776..84189521)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33432 Neighboring gene STARR-seq mESC enhancer starr_39351 Neighboring gene predicted gene, 33530 Neighboring gene microRNA 6392 Neighboring gene STARR-seq mESC enhancer starr_39354 Neighboring gene gamma-secretase subunit PEN-2 pseudogene Neighboring gene SAMM50 sorting and assembly machinery component Neighboring gene VISTA enhancer mm91 Neighboring gene STARR-seq mESC enhancer starr_39355 Neighboring gene STARR-seq mESC enhancer starr_39356 Neighboring gene parvin, beta Neighboring gene predicted gene, 33723

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium-dependent phospholipase A2 activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-independent phospholipase A2 activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables diolein transacylation activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables long-chain fatty acyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables long-chain fatty acyl-CoA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lysophosphatidic acid acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lysophosphatidic acid acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables lysophosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lysophosphatidic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables mono-olein transacylation activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phospholipase A2 activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phospholipase A2 activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables triacylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables triacylglycerol lipase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables triacylglycerol lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in glycerophospholipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycerophospholipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid droplet organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in long-chain fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphatidic acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidic acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to dietary excess IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride acyl-chain remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in triglyceride biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    1-acylglycerol-3-phosphate O-acyltransferase Pnpla3
    Names
    acylglycerol O-acyltransferase
    acylglycerol transacylase
    adiponutrin
    calcium-independent phospholipase A2-epsilon
    iPLA2-epsilon
    lysophosphatidic acid acyltransferase
    patatin-like phospholipase domain-containing protein 3
    NP_001395268.1
    NP_001395269.1
    NP_001395270.1
    NP_001395271.1
    NP_473429.2

    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.

    mRNA and Protein(s)

    1. NM_001408339.1NP_001395268.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL626769
      UniProtKB/Swiss-Prot
      Q91WW7
    2. NM_001408340.1NP_001395269.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL626769
      UniProtKB/Swiss-Prot
      Q91WW7
    3. NM_001408341.1NP_001395270.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL626769
      UniProtKB/Swiss-Prot
      Q91WW7
    4. NM_001408342.1NP_001395271.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL626769
    5. NM_054088.4NP_473429.2  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL626769
      Consensus CDS
      CCDS37165.1
      UniProtKB/Swiss-Prot
      Q91WW7
      UniProtKB/TrEMBL
      E9QNZ9
      Related
      ENSMUSP00000043826.5, ENSMUST00000045289.6
      Conserved Domains (1) summary
      cd07221
      Location:8259
      Pat_PNPLA3; Patatin-like phospholipase domain containing protein 3

    RNA

    1. NR_176645.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL626769
    2. NR_176646.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL626769

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      84052017..84073720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)