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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AGPAT3
1-acylglycerol-3-phosphate O-acyltransferase 3
Chromosome 21 · 21q22.3
NCBI Gene: 56894Ensembl: ENSG00000160216.21HGNC: HGNC:326UniProt: Q9NRZ7
32PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-acylglycerol-3-phosphate O-acyltransferase activityprotein bindingendoplasmic reticulumnuclear envelopeIntellectual disabilityprostate carcinomadrug allergyNeurodevelopmental disorder
✦AI Summary

AGPAT3 (1-acylglycerol-3-phosphate O-acyltransferase 3) catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone 1. The enzyme acts on LPA containing saturated or unsaturated fatty acids (C16:0-C20:4) and preferentially uses arachidonoyl-CoA as an acyl donor, with additional activity toward lysophospholipids 1. AGPAT3 is essential for phosphatidic acid and glycerophospholipid biosynthesis, critical processes for membrane biogenesis and lipid storage 2. Mechanistically, AGPAT3 functions in lipid remodeling pathways with disease-relevant consequences. IFN-γ signaling upregulates AGPAT3 expression via IRF1, driving accumulation of polyunsaturated ether phospholipids that sensitize tumor cells to ferroptosis and enhance immunotherapy efficacy 3. Conversely, UBXD8 activation of AGPAT3 specifically incorporates docosahexaenoate (DHA) into phospholipids; excess unsaturated fatty acids disrupt this complex, preventing pathological DHA accumulation and ferroptosis 4. In breast cancer, AGPAT3-dependent lipid peroxidation promotes ferroptosis vulnerability to CDK4/6 inhibition 5. Loss-of-function mutations cause severe phenotypes: biallelic AGPAT3 variants underlie intellectual disability with retinitis pigmentosa (IDRP) syndrome through impaired neuronal migration 6. AGPAT3 knockout mice exhibit reduced adipose tissue mass with impaired adipocyte differentiation, though maintaining normal glucose homeostasis 7. AGPAT3 genetic variants associate with milk fatty acid composition in dairy cattle 8.

Sources cited
1
AGPAT3 catalyzes conversion of LPA to PA; substrate and acyl-CoA donor preferences
PMID: 21173190
2
AGPAT3 role in TAG biosynthesis pathway and lipid droplet localization
PMID: 40875810
3
IFN-γ-IRF1-AGPAT3 axis drives lipid remodeling and ferroptosis sensitization in cancer immunotherapy
PMID: 41807033
4
UBXD8 activates AGPAT3 for DHA-containing phospholipid synthesis; FA-sensing mechanism prevents ferroptosis
PMID: 40934923
5
AGPAT3-dependent pathway promotes lipid peroxidation in breast cancer ferroptosis
PMID: 39500869
6
AGPAT3 loss-of-function causes intellectual disability and retinitis pigmentosa through neuronal dysfunction
PMID: 37821758
7
AGPAT3 knockout reduces adipose tissue mass and impairs adipocyte differentiation
PMID: 38717361
8
AGPAT3 genetic variants associate with milk fatty acid composition
PMID: 33522959
Disease Associationsⓘ20
Intellectual disabilityOpen Targets
0.38Weak
prostate carcinomaOpen Targets
0.33Weak
drug allergyOpen Targets
0.24Weak
Neurodevelopmental disorderOpen Targets
0.18Weak
inherited retinal dystrophyOpen Targets
0.18Weak
generalised epilepsyOpen Targets
0.18Weak
adverse effectOpen Targets
0.15Weak
tooth diseaseOpen Targets
0.15Weak
azoospermiaOpen Targets
0.09Suggestive
Cone rod dystrophyOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
Sorsby's fundus dystrophyOpen Targets
0.07Suggestive
Familial drusenOpen Targets
0.07Suggestive
Best vitelliform macular dystrophyOpen Targets
0.06Suggestive
adult-onset foveomacular vitelliform dystrophyOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.06Suggestive
Pathogenic Variants1
NM_020132.5(AGPAT3):c.747C>A (p.Tyr249Ter)Pathogenic
Intellectual disability
☆☆☆☆→ Residue 249
View on ClinVar ↗
Related Genes
PLPP2Protein interaction98%LPIN3Protein interaction96%MBOAT7Protein interaction93%PLPP5Protein interaction92%PLPP4Protein interaction92%MBOAT1Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Brain
71%
Heart
53%
Lung
45%
Ovary
25%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
AGPAT3PLPP2LPIN3MBOAT7PLPP5PLPP4MBOAT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NRZ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.21]
RankingsWhere AGPAT3 stands among ~20K protein-coding genes
  • #11,461of 20,598
    Most Researched32
  • #5,243of 5,498
    Most Pathogenic Variants1
  • #505of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedAGPAT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of GPX4 enhances CDK4/6 inhibitor and endocrine therapy activity in breast cancer.
PMID: 39500869
Nat Commun · 2024
1.00
2
A post-GWAS confirming the genetic effects and functional polymorphisms of AGPAT3 gene on milk fatty acids in dairy cattle.
PMID: 33522959
J Anim Sci Biotechnol · 2021
0.90
3
Exogenous H
PMID: 37899701
J Cachexia Sarcopenia Muscle · 2023
0.80
4
Protection against ferroptosis through maintaining homeostasis of docosahexaenoate-containing phospholipids.
PMID: 40934923
Mol Cell · 2025
0.70
5
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.
PMID: 37821758
Eur J Hum Genet · 2023
0.60