HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLAAT3
phospholipase A and acyltransferase 3
Chromosome 11 · 11q12.3-q13.1
NCBI Gene: 11145Ensembl: ENSG00000176485.15HGNC: HGNC:17825UniProt: P53816
43PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phospholipid metabolic processglycerophospholipid phospholipase A1 activityA2-type glycerophospholipase activitycytosollipodystrophy, familial partial, type 9osteosarcomaneoplasmbreast cancer
✦AI Summary

PLAAT3 (phospholipase A and acyltransferase 3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue that functions through dual enzymatic mechanisms. As a phospholipase A1/A2 and acyltransferase, PLAAT3 generates N-acylethanolamines and remodels glycerophospholipids to maintain membrane homeostasis 1. The enzyme plays critical roles in organelle degradation during cellular differentiation; PLAAT3-deficient mice develop cataracts due to impaired organelle clearance in lens fiber cells 2. In viral infection, PLAAT3 acts as a host factor for picornaviruses, facilitating viral genome release and translation through its lipid-modifying activity 3. Clinically, PLAAT3 loss-of-function mutations cause familial partial lipodystrophy type 9, characterized by variable fat loss and metabolic complications including insulin resistance 4. The disease mechanism involves impaired peroxisome proliferator-activated receptor gamma (PPARγ) signaling and defective adipocyte differentiation 4. Beyond lipodystrophy, PLAAT3 upregulation in preeclampsia promotes neutrophil activation via lysophosphatidic acid-LPAR5 signaling 5, and dysregulation associates with colon adenocarcinoma progression 6. As a RAS-responsive tumor suppressor, PLAAT3 downregulation occurs through epigenetic mechanisms in transformed cells 7, suggesting therapeutic potential in metabolic and neoplastic diseases.

Sources cited
1
PLAAT3 is a host factor for picornaviruses required for viral genome release and translation
PMID: 28077878
2
PLAAT3 is a phospholipid-modifying enzyme generating N-acylethanolamines and maintaining organellar homeostasis
PMID: 40074088
3
PLAAT3 deficiency causes cataracts due to impaired organelle degradation in lens fiber cells
PMID: 41328535
4
PLAAT3 loss-of-function causes familial partial lipodystrophy type 9 through impaired PPARγ signaling and adipocyte dysfunction
PMID: 37919452
5
PLAAT3 upregulation in preeclampsia activates neutrophils via lysophosphatidic acid-LPAR5 axis
PMID: 40623340
6
PLAAT3 is part of a lysosomal-related gene signature associated with colon adenocarcinoma prognosis
PMID: 40254156
7
PLAAT3 functions as a RAS-responsive tumor suppressor downregulated through epigenetic mechanisms in cancer
PMID: 36513579
Disease Associationsⓘ21
lipodystrophy, familial partial, type 9Open Targets
0.55Moderate
osteosarcomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
PPARG-related familial partial lipodystrophyOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.05Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.05Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
pancreatic adenocarcinomaOpen Targets
0.05Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Lipodystrophy, familial partial, 9UniProt
Pathogenic Variants3
NM_001128203.2(PLAAT3):c.16-4823_118+167delPathogenic
Lipodystrophy, familial partial, type 9
☆☆☆☆2024
NM_001128203.2(PLAAT3):c.286dup (p.Ala96fs)Pathogenic
Lipodystrophy, familial partial, type 9
☆☆☆☆2024→ Residue 96
NM_001128203.2(PLAAT3):c.339C>A (p.Cys113Ter)Pathogenic
Lipodystrophy, familial partial, type 9
☆☆☆☆2024→ Residue 113
View on ClinVar ↗
Related Genes
PLA2G2DProtein interaction98%PISDProtein interaction98%PTDSS2Protein interaction96%MBOAT2Protein interaction94%CHDHProtein interaction93%SELENOIProtein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
70%
Liver
69%
Ovary
53%
Lung
27%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
PLAAT3PLA2G2DPISDPTDSS2MBOAT2CHDHSELENOI
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZOM · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.25 [0.81–1.84]
RankingsWhere PLAAT3 stands among ~20K protein-coding genes
  • #9,769of 20,598
    Most Researched43
  • #4,079of 5,498
    Most Pathogenic Variants3
  • #16,754of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedPLAAT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
PMID: 37919452
Nat Genet · 2023
1.00
2
The PLAAT family as phospholipid-related enzymes.
PMID: 40074088
Prog Lipid Res · 2025
0.90
3
Phospholipase A and acyltransferases as novel regulator of organelle dynamics.
PMID: 41328535
J Biochem · 2026
0.80
4
Protein Dynamics Influence the Enzymatic Activity of Phospholipase A/Acyltransferases 3 and 4.
PMID: 33749246
Biochemistry · 2021
0.70
5
Upregulation of PLAAT3 in syncytiotrophoblast induces activation of neutrophils via LPA-LPAR5 axis in preeclampsia.
PMID: 40623340
Placenta · 2025
0.60