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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AGPAT1
1-acylglycerol-3-phosphate O-acyltransferase 1
Chromosome 6 · 6p21.32
NCBI Gene: 10554Ensembl: ENSG00000204310.14HGNC: HGNC:324UniProt: A0A024RCV5
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-acylglycerol-3-phosphate O-acyltransferase activityprotein bindingpositive regulation of cytokine productionphosphatidic acid biosynthetic processulcerative colitisinfectiondengue disease46,XX gonadal dysgenesis
✦AI Summary

AGPAT1 (1-acylglycerol-3-phosphate O-acyltransferase 1) catalyzes the acylation of lysophosphatidic acid (LPA) at the sn-2 position to generate phosphatidic acid (PA), a critical precursor for phospholipid and triacylglycerol biosynthesis 1. This enzyme localizes to the endoplasmic reticulum membrane and exhibits biochemical properties similar to its homolog AGPAT2 2. AGPAT1 serves important physiological roles across multiple organ systems; Agpat1-null mice exhibit metabolic dysfunction including hypoglycemia and reduced gluconeogenesis, reproductive abnormalities with impaired spermatogenesis and oligoanovulation, and neurological defects including audiogenic seizures and abnormal hippocampal development 1. Genetically, AGPAT1 variants are associated with exfoliation syndrome (XFS), an age-related systemic disorder affecting extracellular matrix homeostasis and causing ocular manifestations including glaucoma—the world's leading cause of irreversible blindness 345. Additionally, AGPAT1 has been identified as an endocrine-disrupting chemical-responsive gene linked to endometriosis risk through genome-wide association studies and Mendelian randomization analyses 6. Recent evidence suggests AGPAT1 serves as a colonic biomarker for discriminating ulcerative colitis with primary sclerosing cholangitis from ulcerative colitis alone 7, highlighting its potential clinical diagnostic utility in inflammatory bowel disease.

Sources cited
1
AGPAT1 catalyzes conversion of LPA to PA; Agpat1-null mice exhibit metabolic, reproductive, and neurological abnormalities
PMID: 28973305
2
AGPAT1 and AGPAT2 have similar substrate specificities; both localize to endoplasmic reticulum
PMID: 21873652
3
AGPAT1 variants associated with exfoliation syndrome (XFS) risk
PMID: 29965897
4
AGPAT1 at 6p21 identified as genome-wide significant locus for exfoliation syndrome
PMID: 28553957
5
AGPAT1 implicated in exfoliation glaucoma genetic architecture
PMID: 33396423
6
AGPAT1 identified as endocrine-disrupting chemical-responsive gene with causal association to endometriosis
PMID: 41443441
7
AGPAT1 serves as colonic biomarker for discriminating ulcerative colitis with primary sclerosing cholangitis
PMID: 35363634
Disease Associationsⓘ20
ulcerative colitisOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
dengue diseaseOpen Targets
0.05Suggestive
46,XX gonadal dysgenesisOpen Targets
0.05Suggestive
primary Fanconi syndromeOpen Targets
0.05Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.05Suggestive
nephrotic syndromeOpen Targets
0.05Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
Fanconi renotubular syndrome 1Open Targets
0.04Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.04Suggestive
Combined pituitary hormone deficiencies, genetic formsOpen Targets
0.04Suggestive
pentosuriaOpen Targets
0.04Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.04Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.04Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.04Suggestive
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisOpen Targets
0.04Suggestive
Estrogen resistance syndromeOpen Targets
0.04Suggestive
Dent diseaseOpen Targets
0.04Suggestive
malignant hyperthermia, susceptibility to, 1Open Targets
0.04Suggestive
LCAT deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPAT2Protein interaction98%LPIN3Protein interaction96%LPIN1Protein interaction96%PLPP5Protein interaction92%PLPP4Protein interaction92%AGKProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Ovary
77%
Heart
64%
Liver
59%
Lung
54%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
AGPAT1GPAT2LPIN3LPIN1PLPP5PLPP4AGK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99943
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.10–0.37]
RankingsWhere AGPAT1 stands among ~20K protein-coding genes
  • #7,037of 20,598
    Most Researched66
  • #1,687of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedAGPAT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of Exfoliation Syndrome.
PMID: 29965897
J Glaucoma · 2018
1.00
2
Systematic analyses uncover endocrine-disrupting chemical-responsive genes linked to endometriosis.
PMID: 41443441
Reprod Toxicol · 2026
0.90
3
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
PMID: 28553957
Nat Genet · 2017
0.80
4
Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.
PMID: 28973305
Endocrinology · 2017
0.70
5
Cloning and characterization a novel human 1-acyl-sn-glycerol-3-phosphate acyltransferase gene AGPAT7.
PMID: 16243729
DNA Seq · 2005
0.60