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HUMAN:PLPL3

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) PNPLA3 (synonyms: ADPN, C22orf20)
Protein Name(s) Patatin-like phospholipase domain-containing protein 3

Acylglycerol O-acyltransferase Adiponutrin Calcium-independent phospholipase A2-epsilon iPLA2-epsilon

External Links
UniProt Q9NST1
EMBL AL138578
CR456476
AK123806
AK315166
AL023654
AL035398
AL035398
AL023654
AL023654
AL035398
AL035398
AL023654
CH471138
BC014449
BC065195
CCDS CCDS14054.1
RefSeq NP_079501.2
UniGene Hs.654800
ProteinModelPortal Q9NST1
BioGrid 123247
IntAct Q9NST1
STRING 9606.ENSP00000216180
PhosphoSite Q9NST1
DMDM 32469599
MaxQB Q9NST1
PaxDb Q9NST1
PRIDE Q9NST1
DNASU 80339
Ensembl ENST00000216180
ENST00000423180
GeneID 80339
KEGG hsa:80339
UCSC uc003bei.1
CTD 80339
GeneCards GC22P044319
H-InvDB HIX0159175
HGNC HGNC:18590
HPA HPA058058
MIM 609567
613282
neXtProt NX_Q9NST1
Orphanet 33271
PharmGKB PA38592
eggNOG NOG261571
GeneTree ENSGT00390000005295
HOGENOM HOG000007467
HOVERGEN HBG007046
InParanoid Q9NST1
KO K13534
OMA FDAKTTI
OrthoDB EOG7J9VQR
PhylomeDB Q9NST1
TreeFam TF314272
Reactome REACT_121122
UniPathway UPA00256
GeneWiki PNPLA3
GenomeRNAi 80339
NextBio 70910
PRO PR:Q9NST1
Proteomes UP000005640
Bgee Q9NST1
CleanEx HS_PNPLA3
ExpressionAtlas Q9NST1
Genevestigator Q9NST1
GO GO:0005789
GO:0016021
GO:0016020
GO:0051265
GO:0051264
GO:0004623
GO:0004806
GO:0036155
GO:0046474
GO:0006644
GO:0044281
GO:0019432
GO:0019433
InterPro IPR016035
IPR002641
Pfam PF01734
SUPFAM SSF52151

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0036153

triglyceride acyl-chain remodeling

PMID:24511104[1]

ECO:0000314

P

Fig 3

complete
CACAO 9598

enables

GO:0003841

1-acylglycerol-3-phosphate O-acyltransferase activity

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005811

lipid droplet

PMID:20034933[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0004806

triglyceride lipase activity

PMID:20034933[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0034389

lipid droplet organization

PMID:23398201[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006654

phosphatidic acid biosynthetic process

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

P

has_direct_input:(CHEBI:132742)

Seeded From UniProt

complete

part_of

GO:0005811

lipid droplet

PMID:23398201[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0004806

triglyceride lipase activity

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

F

has_direct_input:(CHEBI:53753)

Seeded From UniProt

complete

enables

GO:0042171

lysophosphatidic acid acyltransferase activity

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0036042

long-chain fatty acyl-CoA binding

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

F

has_direct_input:(CHEBI:15534)|has_direct_input:(CHEBI:15530)|has_direct_input:(CHEBI:15514)|has_direct_input:(CHEBI:15525)

Seeded From UniProt

complete

involved_in

GO:0001676

long-chain fatty acid metabolic process

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0035727

lysophosphatidic acid binding

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0019433

triglyceride catabolic process

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

P

has_direct_input:(CHEBI:53753)

Seeded From UniProt

complete

involved_in

GO:0019432

triglyceride biosynthetic process

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005811

lipid droplet

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006650

glycerophospholipid metabolic process

PMID:22560221[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0036153

triglyceride acyl-chain remodeling

PMID:24511104[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0051265

diolein transacylation activity

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0051264

mono-olein transacylation activity

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0019433

triglyceride catabolic process

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0019432

triglyceride biosynthetic process

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q91WW7

C

Seeded From UniProt

complete

enables

GO:0004806

triglyceride lipase activity

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004623

phospholipase A2 activity

PMID:15364929[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0055088

lipid homeostasis

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0036449
PANTHER:PTN000274414

P

Seeded From UniProt

complete

involved_in

GO:0019433

triglyceride catabolic process

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0036449
MGI:MGI:1914103
MGI:MGI:2151796
PANTHER:PTN000274414
UniProtKB:Q9NST1

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2151796
PANTHER:PTN000274414
UniProtKB:Q9NST1

C

Seeded From UniProt

complete

part_of

GO:0005811

lipid droplet

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0036449
MGI:MGI:1914103
MGI:MGI:2151796
PANTHER:PTN000274414
UniProtKB:Q96AD5
UniProtKB:Q9NST1
WB:WBGene00015484

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000274414
UniProtKB:Q8N8W4

C

Seeded From UniProt

complete

enables

GO:0004806

triglyceride lipase activity

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0036449
MGI:MGI:1914103
MGI:MGI:2151796
PANTHER:PTN000274414
UniProtKB:Q7Z6Z6
UniProtKB:Q9NST1

F

Seeded From UniProt

complete

enables

GO:0003841

1-acylglycerol-3-phosphate O-acyltransferase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR039185

F

Seeded From UniProt

complete

involved_in

GO:0006629

lipid metabolic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002641

P

Seeded From UniProt

complete

involved_in

GO:0016042

lipid catabolic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033562

P

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033562

F

Seeded From UniProt

complete

involved_in

GO:0019433

triglyceride catabolic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR039185

P

Seeded From UniProt

complete

enables

GO:0004806

triglyceride lipase activity

GO_REF:0000003

ECO:0000501

evidence used in automatic assertion

EC:3.1.1.3

F

Seeded From UniProt

complete

enables

GO:0003841

1-acylglycerol-3-phosphate O-acyltransferase activity

GO_REF:0000003

ECO:0000501

evidence used in automatic assertion

EC:2.3.1.51

F

Seeded From UniProt

complete

involved_in

GO:0036155

acylglycerol acyl-chain remodeling

Reactome:R-HSA-1482883

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

Reactome:R-HSA-1482811
Reactome:R-HSA-1482777
Reactome:R-HSA-1482654
Reactome:R-HSA-1482647

ECO:0000304

author statement supported by traceable reference used in manual assertion




C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472
UniProtKB-SubCell:SL-0162

C

Seeded From UniProt

complete

involved_in

GO:0008654

phospholipid biosynthetic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0594

P

Seeded From UniProt

complete

part_of

GO:0005811

lipid droplet

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0551
UniProtKB-SubCell:SL-0154

C

Seeded From UniProt

complete

enables

GO:0016746

transferase activity, transferring acyl groups

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0012

F

Seeded From UniProt

complete

involved_in

GO:0006629

lipid metabolic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0443

P

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Ruhanen, H et al. (2014) PNPLA3 mediates hepatocyte triacylglycerol remodeling. J. Lipid Res. 55 739-46 PubMed GONUTS page
  2. 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 Kumari, M et al. (2012) Adiponutrin functions as a nutritionally regulated lysophosphatidic acid acyltransferase. Cell Metab. 15 691-702 PubMed GONUTS page
  3. 3.0 3.1 He, S et al. (2010) A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J. Biol. Chem. 285 6706-15 PubMed GONUTS page
  4. 4.0 4.1 Chamoun, Z et al. (2013) PNPLA3/adiponutrin functions in lipid droplet formation. Biol. Cell 105 219-233 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 5.4 5.5 Jenkins, CM et al. (2004) Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. J. Biol. Chem. 279 48968-75 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 6.4 6.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page