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

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: human all
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Genomic context

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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PNPLA3 is a triglyceride lipase that mobilizes polyunsaturated fatty acids to facilitate hepatic secretion of large-sized very low-density lipoprotein.
Title: PNPLA3 is a triglyceride lipase that mobilizes polyunsaturated fatty acids to facilitate hepatic secretion of large-sized very low-density lipoprotein.
Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
Title: Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
Long-term hypercaloric diet exacerbates metabolic liver disease in PNPLA3 I148M animals.
Title: Long-term hypercaloric diet exacerbates metabolic liver disease in PNPLA3 I148M animals.
The PNPLA3 variant I148M reveals protective effects toward hepatocellular carcinoma in mice via restoration of omega-3 polyunsaturated fats.
Title: The PNPLA3 variant I148M reveals protective effects toward hepatocellular carcinoma in mice via restoration of omega-3 polyunsaturated fats.
RORalpha regulates hepatic lipolysis by inducing transcriptional expression of PNPLA3 in mice.
Title: RORα regulates hepatic lipolysis by inducing transcriptional expression of PNPLA3 in mice.
Absence of Adiponutrin (PNPLA3) and Monoacylglycerol Lipase Synergistically Increases Weight Gain and Aggravates Steatohepatitis in Mice.
Title: Absence of Adiponutrin (PNPLA3) and Monoacylglycerol Lipase Synergistically Increases Weight Gain and Aggravates Steatohepatitis in Mice.
these data showed previously uncovered roles of Phf16 and Pnpla3 in adipogenesis, highlighting the potential of using phytochemicals for further investigation of adipocyte biology.
Title: Identification of Phf16 and Pnpla3 as new adipogenic factors regulated by phytochemicals.
The ASO-mediated silencing of Pnpla3 reduced liver steatosis in homozygous Pnpla3 148M/M knock-in mutant mice but not in wild-type littermates fed a steatogenic high-sucrose diet.
Title: Pnpla3 silencing with antisense oligonucleotides ameliorates nonalcoholic steatohepatitis and fibrosis in Pnpla3 I148M knock-in mice.
results show that the steatosis associated with PNPLA3(148M) is caused by accumulation of PNPLA3 on LDs.
Title: Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis.
conclude that the fatty liver disease associated with genetic variation in PNPLA3 is not related to the enzyme's role in remodeling lipid droplets.
Title: Patatin-like phospholipase domain–containing protein 3 promotes transfer of essential fatty acids from triglycerides to phospholipids in hepatic lipid droplets.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (2)
Targeted (4) 1 citation

General gene information

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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 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

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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

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

NP_001395269.1

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

NP_001395270.1

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

NP_001395271.1

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

NP_473429.2

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

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)

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

Status: VALIDATED

Source sequence(s)

AL626769
NM_001408340.1 → NP_001395269.1 1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 3

Status: VALIDATED

Source sequence(s)

AL626769
NM_001408341.1 → NP_001395270.1 1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 4

Status: VALIDATED

Source sequence(s)

AL626769
NM_001408342.1 → NP_001395271.1 1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 5

Status: VALIDATED

Source sequence(s)

AL626769
NM_054088.4 → NP_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:8 → 259

Pat_PNPLA3; Patatin-like phospholipase domain containing protein 3