HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MBOAT1
membrane bound glycerophospholipid O-acyltransferase 1
Chromosome 6 · 6p22.3
NCBI Gene: 154141Ensembl: ENSG00000172197.12HGNC: HGNC:21579UniProt: Q6ZNC8
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylserine acyl-chain remodeling1-acylglycerophosphoserine O-acyltransferase activityacyltransferase activityendoplasmic reticulum membranetype 2 diabetes mellitusjaw diseaseulcerative colitisbiliary tract disease
✦AI Summary

MBOAT1 (membrane bound O-acyltransferase 1) is an acyltransferase that catalyzes acyl-CoA transfer to lysophospholipids, producing phospholipids through the Lands cycle phospholipid remodeling pathway 1. It preferentially acts on lysophosphatidylserine and lysophosphatidylethanolamine, with oleoyl-CoA as the preferred acyl donor 1. Beyond canonical lipid remodeling, MBOAT1 functions as a ferroptosis suppressor by remodeling cellular phospholipid profiles independently of GPX4 or FSP1 2. This ferroptosis-protective function is transcriptionally regulated by estrogen and androgen receptors, linking MBOAT1 to hormone-dependent diseases 23. MBOAT1 dysregulation associates with multiple pathologies: mutations cause male infertility through defective spermatogenesis 4, elevated expression promotes glioma progression via ferroptosis resistance and immunosuppression 5, and altered expression contributes to endometriosis progression 3 and polycystic ovary syndrome risk 6. Additionally, MBOAT1 regulates specific lipid species affecting meat flavor in ruminants 7. The MBOAT1/2 ferroptosis pathway represents an emerging therapeutic target across kidney diseases, cancer, and reproductive disorders 89.

Sources cited
1
MBOAT1 catalyzes acyl-CoA transfer to lysophospholipids via the Lands cycle; acts on lysophosphatidylserine and lysophosphatidylethanolamine; prefers oleoyl-CoA and 1-oleoyl-LPE
PMID: 18772128
2
MBOAT1 suppresses ferroptosis by remodeling phospholipid profiles independently of GPX4/FSP1; transcriptionally upregulated by estrogen receptor
PMID: 37267948
3
Estradiol regulates MBOAT1-mediated ferroptosis; MBOAT1 upregulation in endometriosis confers ferroptosis resistance
PMID: 40983106
4
Homozygous MBOAT1 variants cause nonobstructive azoospermia and male infertility
PMID: 34596601
5
MBOAT1 overexpression promotes glioma progression through ferroptosis resistance and immunosuppressive microenvironment
PMID: 41696943
6
MBOAT1 identified as hub gene causally associated with increased polycystic ovary syndrome risk via Mendelian randomization
PMID: 39735641
7
MBOAT1/2 pathway functions in ferroptosis regulation relevant to kidney disease pathogenesis
PMID: 39021564
8
Li exposure suppresses ER-mediated MBOAT1 transcription causing placental ferroptosis and miscarriage; MBOAT1 supplementation prevents ferroptosis
PMID: 41381569
9
MBOAT1 expression regulates monogalactosyldiacylglycerol lipid levels affecting meat flavor in ruminants
PMID: 40789080
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.36Weak
jaw diseaseOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.30Weak
biliary tract diseaseOpen Targets
0.28Weak
Abnormality of the genital systemOpen Targets
0.27Weak
bone fractureOpen Targets
0.27Weak
Urinary retentionOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
placental retentionOpen Targets
0.21Weak
coronary artery diseaseOpen Targets
0.20Weak
strokeOpen Targets
0.20Weak
exostosisOpen Targets
0.16Weak
mucositisOpen Targets
0.14Weak
stomatitisOpen Targets
0.14Weak
cornea transplantationOpen Targets
0.14Weak
diverticular diseaseOpen Targets
0.14Weak
multinodular goiterOpen Targets
0.08Suggestive
Chronic Obstructive AsthmaOpen Targets
0.07Suggestive
SplenomegalyOpen Targets
0.06Suggestive
spondylolisthesisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLPP3Protein interaction94%DGKEProtein interaction92%PLPP5Protein interaction92%PLB1Protein interaction92%PLD1Protein interaction92%PLD2Protein interaction92%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
100%
Lung
66%
Heart
45%
Liver
31%
Brain
10%
Gene Interaction Network
Click a node to explore
MBOAT1PLPP3DGKEPLPP5PLB1PLD1PLD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZNC8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.76–1.23]
RankingsWhere MBOAT1 stands among ~20K protein-coding genes
  • #14,197of 20,598
    Most Researched20
  • #12,955of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedMBOAT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ferroptosis surveillance independent of GPX4 and differentially regulated by sex hormones.
PMID: 37267948
Cell · 2023
1.00
2
Targeting ferroptosis: a new therapeutic opportunity for kidney diseases.
PMID: 39021564
Front Immunol · 2024
0.90
3
Lithium exposure causes ferroptosis to induce unexplained miscarriage through non-canonical MBOAT1 pathway.
PMID: 41381569
Nat Commun · 2025
0.80
4
Estradiol regulates MBOAT1-mediated ferroptosis and participates in the progression of endometriosis.
PMID: 40983106
J Obstet Gynaecol Res · 2025
0.70
5
MBOAT1 Promotes Glioma Progression Through Enhancing Ferroptosis Resistance and Immunosuppressive Microenvironment.
PMID: 41696943
CNS Neurosci Ther · 2026
0.60