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

Gene ID: 116939, updated on 3-Apr-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 several functions, including 1-acylglycerol-3-phosphate O-acyltransferase activity; long-chain fatty acyl-CoA binding activity; and lysophosphatidic acid binding 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 non-alcoholic fatty liver disease. Human ortholog(s) of this gene implicated in coronary artery disease; fatty liver disease (multiple); liver disease (multiple); and type 2 diabetes mellitus. Orthologous to human PNPLA3 (patatin like phospholipase domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in subcutaneous fat pad adult (RPKM 202.0), mammary gland adult (RPKM 115.5) and 3 other tissues See more
Orthologs
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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)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (4) 

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 acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables diolein transacylation activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
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 transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables triglyceride lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables triglyceride lipase activity ISO
Inferred from Sequence Orthology
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 catabolic process IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
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 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
 
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)

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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.

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
  2. NM_001408340.1NP_001395269.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL626769
  3. NM_001408341.1NP_001395270.1  1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL626769
  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)