• Gene id: 80339

Gene Summary

• Gene Symbol: PNPLA3   Gene   UCSC   Ensembl
• Aliases: ADPN, C22orf20, iPLA(2)epsilon
• Gene name: patatin like phospholipase domain containing 3
• Alternate names: 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3, acylglycerol O-acyltransferase, acylglycerol transacylase, adiponutrin, calcium-independent phospholipase A2-epsilon, iPLA2-epsilon, iPLA2epsilon, lysophosphatidic acid acyltransferase, patatin-like phospholipa,
• Gene location: 22q13.31 (43923804: 43947581)     Exons: 14     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided b
• OMIM: 609567

Protein Summary

• Protein general information: Q9NST1  
  • Name: 1 acylglycerol 3 phosphate O acyltransferase PNPLA3 (EC 2.3.1.51) (Acylglycerol transacylase) (Adiponutrin) (ADPN) (Calcium independent phospholipase A2 epsilon) (iPLA2 epsilon) (Lysophosphatidic acid acyltransferase) (Patatin like phospholipase domain co
  • Length: 481  
  • Mass: 52865
• Sequence:

  MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLSDLVRK
  ARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPF
  YSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGNLYLLSRA
  FVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDE
  LLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTW
  LPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSIL
  RSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL

• Structural information:
  • Protein Domains: (10..17-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR039185  IPR033562  IPR002641  
  • Prosite: PS51635
  • CDD: cd07221
  • STRING: ENSP00000216180
• Other Databases: GeneCards:  PNPLA3  Malacards:  PNPLA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036153	triglyceride acyl-chain remodeling	IDA	biological process
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0055088	lipid homeostasis	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0019433	triglyceride catabolic process	IBA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA	molecular function
GO:0036155	acylglycerol acyl-chain remodeling	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0035727	lysophosphatidic acid binding	IDA	molecular function
GO:0036042	long-chain fatty acyl-CoA binding	IDA	molecular function
GO:0042171	lysophosphatidic acid acyltransferase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0005811	lipid droplet	IDA	cellular component
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0001676	long-chain fatty acid metabolic process	IDA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0006654	phosphatidic acid biosynthetic process	IDA	biological process
GO:0006650	glycerophospholipid metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019432	triglyceride biosynthetic process	IDA	biological process
GO:0034389	lipid droplet organization	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0051264	mono-olein transacylation activity	IDA	molecular function
GO:0019432	triglyceride biosynthetic process	IDA	biological process
GO:0051265	diolein transacylation activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0004623	phospholipase A2 activity	IDA	molecular function
GO:0016020	membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism

Diseases

Associated diseases	References
Nonalcoholic fatty liver disease	KEGG:H01333
Nonalcoholic fatty liver disease	KEGG:H01333
Non-alcoholic fatty liver disease	PMID:26740948
Non-alcoholic fatty liver disease	PMID:24477042
Coronary artery disease	PMID:31377187
hepatocellular carcinoma	PMID:21319195
type 2 diabetes mellitus	PMID:31377187
Fatty liver disease	PMID:21319195
Fatty liver disease	PMID:25284145
Fatty liver disease	PMID:23564580
Fatty liver disease	PMID:25678388
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray