Seroatlas · Human Serome Atlas

PNPLA3

1-acylglycerol-3-phosphate O-acyltransferase PNPLA3

Also known as: adiponutrin, ADPN, C22orf20, dJ796I17.1, FLJ22012, iPLA2epsilon, PLPL3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NST1
Gene
PNPLA3
Ensembl
ENSG00000100344
Chromosome
22
Canonical length
481 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoli,Mitochondria,Cytosol

OverviewNCBI Gene

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 by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

481 residues, UniProt reviewed canonical sequence.

>Q9NST1|PNPLA3
     1  MYDAERGWSL SFAGCGFLGF YHVGATRCLS EHAPHLLRDA RMLFGASAGA LHCVGVLSGI
    61  PLEQTLQVLS DLVRKARSRN IGIFHPSFNL SKFLRQGLCK CLPANVHQLI SGKIGISLTR
   121  VSDGENVLVS DFRSKDEVVD ALVCSCFIPF YSGLIPPSFR GVRYVDGGVS DNVPFIDAKT
   181  TITVSPFYGE YDICPKVKST NFLHVDITKL SLRLCTGNLY LLSRAFVPPD LKVLGEICLR
   241  GYLDAFRFLE EKGICNRPQP GLKSSSEGMD PEVAMPSWAN MSLDSSPESA ALAVRLEGDE
   301  LLDHLRLSIL PWDESILDTL SPRLATALSE EMKDKGGYMS KICNLLPIRI MSYVMLPCTL
   361  PVESAIAIVQ RLVTWLPDMP DDVLWLQWVT SQVFTRVLMC LLPASRSQMP VSSQQASPCT
   421  PEQDWPCWTP CSPKGCPAET KAEATPRSIL RSSLNFFLGN KVPAGAEGLS TFPSFSLEKS
   481  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PNPLA3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • liver: 29 nTPM
  • retina: 5.9 nTPM
  • skin: 5.6 nTPM
  • kidney: 4.2 nTPM
  • choroid plexus: 2.8 nTPM
  • adipose tissue: 2.3 nTPM

Single-cell type

  • retinal pigment epithelial cells: 601 nCPM
  • hepatocytes: 172 nCPM
  • adipocytes: 116 nCPM
  • retinal bipolar cells: 81 nCPM
  • proximal tubule cells: 63 nCPM
  • rod photoreceptor cells: 63 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • naive B-cell: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • choroid plexus: 15 nTPM
  • pons: 6.4 nTPM
  • midbrain: 6.3 nTPM
  • medulla oblongata: 5.7 nTPM
  • thalamus: 5.1 nTPM
  • hippocampal formation: 4.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PNPLA3.

Disease | AllUniProt

Conditions PNPLA3 is implicated in, by any mechanism.

  • Non-alcoholic fatty liver disease 1 (NAFLD1) MIM:613282

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.11
gnomAD pLI
0
gnomAD missense Z
-0.47
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PNPLA3 as an antibody target. Whether an autoantibody or antibody against PNPLA3 could matter depends on whether native PNPLA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PNPLA3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PNPLA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PNPLA3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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