Affinage

MBOAT7

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 · UniProt Q96N66

Length
472 aa
Mass
52.8 kDa
Annotated
2026-06-10
63 papers in source corpus 20 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MBOAT7 (LPIAT1) is the membrane O-acyltransferase that selectively incorporates polyunsaturated fatty acids—principally arachidonic acid—into phosphatidylinositol, acting as the reacylation arm of a Lands-cycle remodeling pathway that sets the cellular pools of arachidonoyl-PI and downstream phosphoinositides (PMID:33513444, PMID:23097495, PMID:23472195). It is a six-transmembrane integral endomembrane protein with a lumenally oriented catalytic dyad (Asn-321/His-356) whose mutation abolishes activity; cryo-EM shows arachidonoyl-CoA and lyso-PI entering the catalytic center through a twisted tunnel from the cytosolic and lumenal sides, with N-terminal lumenal residues dictating phospholipid headgroup selectivity (PMID:37316513, PMID:33513444, PMID:30959108). Loss of MBOAT7 causes accumulation of lysophosphatidylinositol and depletion of arachidonoyl-PI and PI-phosphate species, and this lipid imbalance is the proximal driver of its disease phenotypes (PMID:23472195, PMID:31621579, PMID:32591434). In the liver, MBOAT7 deficiency promotes steatosis and fibrosis through several convergent routes: increased PI turnover feeding a phospholipase C-derived DAG→triglyceride flux, SREBP-1c activation (rescued by Scap co-deletion), FATP1 upregulation (rescued by FATP1 deletion), and a cholesterol-trafficking→TAZ→Indian hedgehog profibrotic axis, while hepatocyte-specific loss also impairs TFEB-mediated lysosomal biogenesis to worsen alcohol-associated injury (PMID:32253259, PMID:32859645, PMID:32058943, PMID:38648183, PMID:38776184). Beyond the liver, MBOAT7-driven PI synthesis governs systemic insulin sensitivity in adipose tissue (PMID:36806709), limits free arachidonic acid available for proinflammatory eicosanoid production to restrain macrophage TLR signaling (PMID:36473860), and in the developing neocortex maintains PI(4,5)P2 levels and suppresses mTOR signaling to support radial glial integrity and cortical neuronal migration (PMID:41488780, PMID:39742503). MBOAT7 forms an ER complex with CDS2 and, in cancer contexts, channels arachidonic acid into PI to support prostaglandin synthesis, tumor proliferation, and ACSL4/MMD-dependent ferroptosis susceptibility [PMID:37691145, PMID:32034305, PMID:bio_10.1101_2025.08.26.672501].

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2012 High

    Established the in vivo enzymatic identity of MBOAT7 as the mammalian arachidonate-incorporating enzyme for PI and linked its loss to a neurodevelopmental phenotype.

    Evidence Lpiat1-knockout mice with in vitro LPIAT activity assays, lipidomics, and cortical histology

    PMID:23097495

    Open questions at the time
    • Catalytic residues not yet defined
    • Structural basis of substrate selectivity unknown
  2. 2013 High

    Showed that MBOAT7 maintains physiological PI and PIP2 pools through a non-redundant deacylation/reacylation Lands cycle, with no compensation from other species.

    Evidence LC-ESI/MS lipidomics of liver and brain from LPIAT1-knockout mice

    PMID:23472195

    Open questions at the time
    • Tissue-specific consequences of pool depletion not yet dissected
    • Downstream signaling effects not addressed
  3. 2019 High

    Defined the six-transmembrane topology and lumenal orientation of the catalytic dyad, framing how substrate access occurs across the membrane.

    Evidence FPP assay, selective permeabilization, immunofluorescence, and in silico topology prediction

    PMID:30959108

    Open questions at the time
    • Atomic structure not yet resolved
    • Mechanism of substrate channeling unknown
  4. 2019 High

    Demonstrated that LPI substrate accumulation, not loss of product per se, is the mechanistic driver of MBOAT7-associated liver disease, with genetic specificity over neighboring TMC4.

    Evidence ASO knockdown in mice, direct hepatic LPI administration, transcriptional profiling, lipidomics

    PMID:31621579

    Open questions at the time
    • LPI receptor/effector mediating inflammatory transcription not identified
    • Link to fibrosis mechanism not yet resolved
  5. 2020 High

    Dissected multiple convergent hepatic mechanisms by which MBOAT7 loss drives steatosis and fibrosis—PI turnover→DAG→TG flux, FATP1 upregulation, and cholesterol-ester accumulation—across mouse, human cell, and human biopsy systems.

    Evidence Hepatocyte-specific knockout mice, CRISPR/siRNA in human hepatic cells, metabolic flux tracing, lipidomics, FATP1 rescue, genotyped human liver biopsies

    PMID:32058943 PMID:32253259 PMID:32591434

    Open questions at the time
    • Relative quantitative contribution of each route not weighted
    • Trigger linking PI imbalance to phospholipase C activation unclear
  6. 2020 Medium

    Placed MBOAT7 in oncogenic and ferroptotic lipid-signaling contexts, showing AA-PI flux supports prostaglandin synthesis and tumor growth in lung and renal cancers.

    Evidence siRNA/CRISPR knockout in lung and ccRCC cell lines, KrasG12D and xenograft mouse models, lipidomics, proliferation/migration assays

    PMID:32034305 PMID:32180553

    Open questions at the time
    • Single-lab studies per cancer type
    • Causal eicosanoid species not fully defined in ccRCC
  7. 2021 High

    Provided direct biochemical proof of substrate preference and identified the essential catalytic residues by reconstituting purified enzyme activity.

    Evidence In vitro acyltransferase assay with purified recombinant WT and N321A/H356A mutant MBOAT7 from Pichia pastoris

    PMID:33513444

    Open questions at the time
    • Kinetic regulation by membrane environment not addressed
    • Acyl-CoA donor specificity range not exhaustively mapped
  8. 2021 High

    Established SREBP-1c processing as a required node for MBOAT7-loss-induced steatosis via epistasis.

    Evidence Liver-specific Mboat7 knockout and Mboat7/Scap double-knockout mice with lipidomics and expression analysis

    PMID:32859645

    Open questions at the time
    • Signal linking PI depletion to SREBP-1c activation not identified
    • Interaction with DAG/FATP1 routes not integrated
  9. 2022 Medium

    Showed MBOAT7 restrains innate immune signaling by sequestering arachidonic acid away from proinflammatory eicosanoids in macrophages.

    Evidence MBOAT7 knockdown/activation in macrophages, phospholipidomics, eicosanoid profiling, ER stress and mitochondrial assays, ATAC-seq

    PMID:36473860

    Open questions at the time
    • Specific TLR adaptor steps affected not defined
    • Single-lab study
  10. 2023 High

    Delivered an atomic-resolution model explaining dual-sided substrate access and headgroup selectivity, and enabled inhibitor discovery.

    Evidence Cryo-EM structure, domain-swap mutagenesis between MBOAT1/5/7, virtual screening, in vitro assay

    PMID:37316513

    Open questions at the time
    • Catalytic transition state not captured
    • Inhibitor efficacy in vivo not established
  11. 2023 Medium

    Identified physical and functional partners—MMD scaffolding ACSL4/MBOAT7 for ferroptosis, and a distinct adipose-specific metabolic role controlling systemic insulin sensitivity.

    Evidence Reciprocal Co-IP with lipidomics/ferroptosis assays (MMD), and adipocyte- vs hepatocyte-specific knockout mice with metabolic phenotyping

    PMID:36806709 PMID:37691145

    Open questions at the time
    • MMD complex stoichiometry/structure unknown
    • Adipose-to-systemic signaling mediator not defined
  12. 2024 Medium

    Extended the hepatic disease mechanism to a cholesterol-trafficking→TAZ→IHH profibrotic axis and to TFEB-dependent lysosomal homeostasis in alcohol-associated injury.

    Evidence AAV MBOAT7 restoration and silencing in MASH mice, hepatocyte vs myeloid conditional knockouts, TAZ/IHH and TFEB/autophagy assays, human biopsies

    PMID:38648183 PMID:38776184

    Open questions at the time
    • Molecular link from phospholipid change to cholesterol trafficking unresolved
    • How PI imbalance impairs TFEB activation unknown
  13. 2025 High

    Resolved the neurodevelopmental mechanism: MBOAT7-driven PI synthesis sustains PI(4,5)P2 and suppresses mTOR to maintain radial glial integrity and enable cortical neuronal migration.

    Evidence Mboat7 knockout mice with PI(4,5)P2 measurement, pharmacological PI(4,5)P2 inhibition, and rapamycin rescue of migration defects; lipidomics in mouse and human neurons

    PMID:39742503 PMID:41488780

    Open questions at the time
    • How LPI accumulation activates mTOR mechanistically unknown
    • Link between PI(4,5)P2 loss and Golgi rounding not molecularly defined
  14. 2025 Medium

    Described a CDS2-anchored ER homeostatic interaction and RAB1-dependent redistribution of MBOAT7 to ER–lipid droplet contacts that restrains DGAT2-mediated droplet growth.

    Evidence Co-IP, CDS2 knockdown, live-cell relocalization imaging, RAB1 dependence and DGAT2/lipolysis assays (preprint)

    PMID:bio_10.1101_2025.08.26.672501

    Open questions at the time
    • Preprint, single lab, not peer reviewed
    • Structural basis of CDS2 interaction and the relocalization trigger undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single PI-remodeling enzyme integrates its diverse tissue-specific outputs—SREBP-1c, TAZ/IHH, mTOR, TLR, insulin signaling—into a unified lipid-signaling logic remains unresolved.
  • No unifying model connecting LPI/PI pool changes to the distinct downstream effectors across tissues
  • Direct LPI sensor/effector not identified
  • In vivo therapeutic targeting of the enzyme untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016740 transferase activity 3 GO:0016787 hydrolase activity 2 GO:0140096 catalytic activity, acting on a protein 2
Localization
GO:0005783 endoplasmic reticulum 2 GO:0005811 lipid droplet 1
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-1643685 Disease 3 R-HSA-162582 Signal Transduction 2 R-HSA-168256 Immune System 1
Partners
ACSL3ACSL4CDS2DGAT2MMDRAB1

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2023 Cryo-EM structure of human MBOAT7 revealed that arachidonyl-CoA and lyso-PI access the catalytic center through a twisted tunnel from the cytosol and lumenal sides, respectively. N-terminal residues on the ER lumenal side determine phospholipid headgroup selectivity: swapping N-terminal residues between MBOATs 1, 5, and 7 converts enzyme specificity for different lyso-phospholipids. The structure also enabled virtual screening-based identification of small-molecule inhibitors. Cryo-EM structure determination, domain-swap mutagenesis, virtual screening, in vitro acyltransferase assay Nature communications High 37316513
2021 Purified recombinant human MBOAT7 preferentially transfers polyunsaturated fatty acids (20:4 arachidonic acid and 20:5 EPA) to lysophosphatidylinositol (LPI). Missense mutations at the putative catalytic dyad residues N321A and H356A, individually or combined, abolish O-acyltransferase activity, establishing these residues as essential catalytic residues. In vitro acyltransferase assay with radiolabeled fatty acids using purified recombinant wild-type and mutant MBOAT7 expressed in Pichia pastoris Biochimica et biophysica acta. Molecular and cell biology of lipids High 33513444
2019 MBOAT7 is an integral multispanning transmembrane protein anchored to endomembranes with six transmembrane domains. The predicted catalytic dyad (Asn-321 and His-356) has a lumenal localization. This topology was established using solubilization of membrane fractions, GFP/FLAG-tagged truncation constructs, selective membrane permeabilization, co-immunofluorescence, and Fluorescence Protease Protection (FPP) assay in living cells. Fluorescence Protease Protection (FPP) assay, selective membrane permeabilization with indirect immunofluorescence, Western blotting, in silico topology prediction (22 methods) Journal of structural biology High 30959108
2012 LPIAT1/MBOAT7 is the enzyme responsible for incorporating arachidonic acid (AA) into phosphatidylinositol (PI) in mammals. Lpiat1-knockout mice show near-complete loss of LPIAT activity with arachidonoyl-CoA, reduced AA in PI and PI-phosphates, cortical atrophy, hippocampal atrophy, disordered cortical lamination, delayed neuronal migration, and reduced neurite outgrowth in vitro. Gene knockout (Lpiat1−/− mice), in vitro LPIAT activity assay, lipidomics, immunohistochemistry, neurite outgrowth assay Molecular biology of the cell High 23097495
2013 LPIAT1/MBOAT7 plays a non-redundant role in maintaining physiological levels of PtdIns and PtdInsP2 through an active deacylation/reacylation (Lands) cycle. Knockout mice show a 26–44% reduction in total PtdIns and PtdInsP2 in brain and liver, a 300–525% increase in C18:0 lyso-PtdIns, and a selective reduction of C38:4 (arachidonoyl-containing) species, with no compensation from other molecular species. Gene knockout mouse (LPIAT1−/−), LC-ESI/MS lipidomics of liver and brain PloS one High 23472195
2019 Mboat7 loss of function in mice (but not Tmc4 loss) is sufficient to promote NAFLD progression under high-fat diet. Mboat7 knockdown leads to accumulation of lysophosphatidylinositol (LPI) substrates. Direct hepatic administration of LPI promotes inflammatory and fibrotic transcriptional changes in an Mboat7-dependent manner, establishing LPI accumulation as the mechanistic driver of liver disease. Antisense oligonucleotide (ASO) knockdown in mice, hepatic LPI administration, transcriptional profiling, lipidomics eLife High 31621579
2020 Hepatocyte-specific Lpiat1/MBOAT7 knockout mice develop spontaneous hepatic steatosis and fibrosis on high-fat diet. The mechanism involves increased PI turnover: reduced PI acyl-chain remodeling stimulates both PI synthesis and breakdown; PI degradation by phospholipase C produces diacylglycerol (DAG), a precursor to triglyceride synthesis, fueling steatosis through this non-canonical pathway. Hepatocyte-specific Lpiat1 knockout mouse, CRISPR-Cas9 and siRNA depletion in human hepatic cells, radiolabeled glycerol/fatty acid metabolic flux, LC-ESI-MS lipidomics, liver spheroid model Gut High 32253259
2020 Hepatocyte-specific deletion of Mboat7 causes spontaneous steatosis characterized by increased hepatic cholesterol ester content and, on a fibrogenic diet, increased fibrosis independent of inflammation. Lipidomics of knockout mice and human rs641738TT carriers both show increased total lysophosphatidylinositol levels and similar alterations in LPI/PI subspecies, indicating inflammation-independent lipid-signaling-mediated fibrogenesis. Hepatocyte-specific Mboat7 knockout mouse (Mboat7Δhep), picrosirius staining, hydroxyproline quantification, RNA sequencing, flow cytometry, LC-MS lipidomics of mouse liver and human liver biopsies Gut High 32591434
2021 Hepatic deletion of Mboat7 (Mboat7 LSKO mice) causes fatty liver associated with activation of SREBP-1c and increased de novo lipogenesis. Lipidomics showed selective reduction of 20-carbon PUFA-containing phosphatidylinositols. Co-deletion of SREBP cleavage-activating protein (Scap) with Mboat7 normalized hepatic triglycerides, establishing that increased SREBP-1c processing is required for Mboat7 loss-induced steatosis. Liver-specific Mboat7 knockout mice, compound Mboat7/Scap double-KO, LC-MS lipidomics, gene expression analysis Journal of lipid research High 32859645
2020 Hyperinsulinemia down-regulates hepatic MBOAT7 expression, contributing to steatosis. MBOAT7 deletion in hepatocytes reduces arachidonic acid incorporation into phosphatidylinositol, causes accumulation of saturated triglycerides, enhances lipogenesis, and upregulates fatty acid transporter FATP1. FATP1 deletion rescues the steatosis phenotype, placing FATP1 downstream of MBOAT7 loss. CRISPR/Cas9 knockout in HepG2 cells, antisense oligonucleotide silencing in C57Bl/6 mice, siRNA, lipid mass spectrometry, FATP1 rescue experiment EBioMedicine High 32058943
2023 MMD (a Golgi-resident scaffold protein) physically interacts with both ACSL4 and MBOAT7, two enzymes that catalyze sequential steps to incorporate arachidonic acid (AA) into phosphatidylinositol (PI). MMD promotes ferroptosis susceptibility in ovarian and renal carcinoma cells in an ACSL4- and MBOAT7-dependent manner by increasing flux of AA into PI, elevating AA-PI and other AA-containing phospholipid species. Co-immunoprecipitation (Co-IP) of MMD with ACSL4 and MBOAT7, genome editing (MBOAT7 KO), lipidomics, ferroptosis cell death assays Cell reports Medium 37691145
2020 ACSL3 channels arachidonic acid (AA) into phosphatidylinositols to provide LPIAT1/MBOAT7 with an AA pool to sustain elevated prostaglandin synthesis in non-small cell lung cancer. LPIAT1 knockdown suppresses proliferation, anchorage-independent growth, and in vivo tumorigenesis in KrasG12D-driven lung cancer models, establishing an ACSL3-LPIAT1 signaling axis for prostaglandin production. siRNA knockdown of LPIAT1 in lung cancer cell lines, KrasG12D mouse models, proliferation and anchorage-independent growth assays, in vivo tumorigenesis assay, lipidomics Oncogene Medium 32034305
2022 MBOAT7 acts as a negative regulator of toll-like receptor (TLR) signaling in macrophages. MBOAT7 deficiency alters membrane phospholipid composition, redistributing arachidonic acid toward proinflammatory eicosanoids, inducing ER stress, mitochondrial dysfunction, and remodeling of the inflammatory-related chromatin landscape, culminating in enhanced macrophage TLR responses. Activation of MBOAT7 reverses these effects. MBOAT7 knockdown/activation in macrophages, phospholipidomics, eicosanoid profiling, ER stress markers, mitochondrial function assays, ATAC-seq chromatin accessibility profiling Nature communications Medium 36473860
2024 Hepatocyte-specific (but not myeloid-specific) deletion of Mboat7 exacerbates ethanol-induced liver injury. Lipidomic profiling revealed increased endosomal/lysosomal lipids (bis-monoacylglycerophosphate, phosphatidylglycerols) in ethanol-exposed Mboat7-HSKO mice. Mechanistically, Mboat7 loss impairs TFEB-mediated lysosomal biogenesis and causes autophagosome accumulation, identifying lysosomal lipid homeostasis dysregulation as a key driver of alcohol-associated liver disease. Hepatocyte-specific and myeloid-specific Mboat7 conditional knockout mice, lipidomics, autophagic flux assays, TFEB localization/activity assays, liver injury markers eLife High 38648183
2023 Adipocyte-specific genetic deletion of Mboat7 promotes hyperinsulinemia, systemic insulin resistance, and mild fatty liver. Unlike in the liver, MBOAT7 is the major source of arachidonic acid-containing PI pools in adipose tissue. Adipocyte MBOAT7-driven PI biosynthesis is closely linked to diet-induced hyperinsulinemia and insulin resistance. Adipocyte-specific Mboat7 knockout mice (adiponectin-Cre), hepatocyte-specific Mboat7 knockout mice (albumin-Cre), metabolic phenotyping, lipidomics of adipose tissue and liver Journal of lipid research High 36806709
2024 MBOAT7 restoration in MASH mice lowers hepatocyte TAZ (WWTR1), and hepatocyte MBOAT7 silencing enhances TAZ upregulation. Changes in hepatocyte phospholipids due to MBOAT7 loss-of-function promote a cholesterol trafficking pathway that upregulates TAZ and the TAZ-induced profibrotic factor Indian hedgehog (IHH), establishing a novel MBOAT7→phospholipid→cholesterol trafficking→TAZ→IHH profibrotic axis. AAV-mediated MBOAT7 restoration in MASH mice, hepatocyte MBOAT7 silencing, TAZ/IHH expression analysis, cholesterol trafficking assays, human liver biopsy analysis Hepatology (Baltimore, Md.) Medium 38776184
2025 Mboat7 deficiency impairs indirect neurogenesis in the developing neocortex by compromising radial glial cell (RGC) integrity, resulting in decreased proliferation, impaired differentiation into intermediate progenitor cells, and increased apoptosis. These defects were preceded by Golgi apparatus rounding and reduced apical E-cadherin expression. The Mboat7-deficient cortex displayed reduced PI(4,5)P2 levels, and pharmacological inhibition of PI(4,5)P2 synthesis recapitulated Golgi rounding, placing PI(4,5)P2 reduction downstream of MBOAT7 loss as the cause of RGC dysfunction. Mboat7 knockout mice, immunohistochemistry of RGC markers, PI(4,5)P2 measurement, pharmacological PI(4,5)P2 synthesis inhibition, Golgi morphology analysis, E-cadherin localization iScience Medium 41488780
2025 Mboat7 loss in vivo results in massive accumulation of lysophosphatidylinositol (LPI) and hyperactive mTOR signaling. Inhibiting mTOR signaling with rapamycin rescued neuronal migration defects in Mboat7 knockout mice, establishing that MBOAT7-driven polyunsaturated PI synthesis suppresses mTOR activity to enable proper cortical neuronal migration. Mboat7 knockout mice, LC-MS/MS lipidomics of mouse brain and human neuron cultures during neurodevelopment, mTOR pathway activity assays, mTOR inhibitor (rapamycin) rescue of migration defects Science translational medicine High 39742503
2025 Under physiological conditions, MBOAT7 interacts with CDS2 in the ER to maintain lipid metabolic homeostasis. Disruption of this interaction (CDS2 knockdown or loss of function) triggers an adaptive response in which MBOAT7 translocates from the ER to ER–lipid droplet (LD) contact sites in a RAB1-dependent manner. At ER-LD contacts, MBOAT7 inhibits DGAT2-mediated LD growth and promotes lipolysis. Co-immunoprecipitation (CDS2-MBOAT7 interaction), CDS2 knockdown, live-cell imaging of MBOAT7 subcellular relocalization, RAB1 dependence assay, DGAT2 activity and LD size assays, lipolysis measurements bioRxivpreprint Medium bio_10.1101_2025.08.26.672501
2020 Genetic deletion of MBOAT7 in clear cell renal cell carcinoma (ccRCC) cells decreases proliferation, induces cell cycle arrest, and prevents tumor formation in vivo. RNAseq of MBOAT7-knockout cells identified alterations in cell migration and extracellular matrix organization that were validated functionally in migration assays. MBOAT7 expression increases with tumor grade in human ccRCC samples. CRISPR/Cas9 knockout in ccRCC cell lines, proliferation assays, cell cycle analysis, in vivo xenograft assay, RNAseq, migration assays, shotgun lipidomics of human ccRCC tumors Molecular metabolism Medium 32180553

Source papers

Stage 0 corpus · 63 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent. Gastroenterology 529 26850495
2017 MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals. Scientific reports 201 28674415
2012 LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice. Molecular biology of the cell 124 23097495
2020 rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. Journal of hepatology 107 32882372
2019 Obesity-linked suppression of membrane-bound O-acyltransferase 7 (MBOAT7) drives non-alcoholic fatty liver disease. eLife 106 31621579
2016 MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C. Nature communications 105 27630043
2020 LPIAT1/MBOAT7 depletion increases triglyceride synthesis fueled by high phosphatidylinositol turnover. Gut 103 32253259
2021 TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models. Cellular and molecular gastroenterology and hepatology 89 34823063
2020 Loss of hepatic Mboat7 leads to liver fibrosis. Gut 88 32591434
2016 Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American journal of human genetics 71 27616480
2013 Lysophosphatidylinositol-acyltransferase-1 (LPIAT1) is required to maintain physiological levels of PtdIns and PtdInsP(2) in the mouse. PloS one 68 23472195
2020 Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes. EBioMedicine 67 32058943
2020 MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD. EBioMedicine 57 32629394
2021 Hepatic deletion of Mboat7 (LPIAT1) causes activation of SREBP-1c and fatty liver. Journal of lipid research 49 32859645
2023 MMD collaborates with ACSL4 and MBOAT7 to promote polyunsaturated phosphatidylinositol remodeling and susceptibility to ferroptosis. Cell reports 47 37691145
2019 MBOAT7 is anchored to endomembranes by six transmembrane domains. Journal of structural biology 45 30959108
2018 Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease. Scientific reports 44 29572551
2018 The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth. The American journal of gastroenterology 43 29485130
2020 The ACSL3-LPIAT1 signaling drives prostaglandin synthesis in non-small cell lung cancer. Oncogene 40 32034305
2016 Association of MBOAT7 gene variant with plasma ALT levels in children: the PANIC study. Pediatric research 40 27411039
2022 A metabolic associated fatty liver disease risk variant in MBOAT7 regulates toll like receptor induced outcomes. Nature communications 38 36473860
2019 TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis. International journal of molecular sciences 33 30875804
2019 Meta-analysis of the association between MBOAT7 rs641738, TM6SF2 rs58542926 and nonalcoholic fatty liver disease susceptibility. Clinics and research in hepatology and gastroenterology 29 30824369
2022 Membrane-bound O-acyltransferase 7 (MBOAT7)-driven phosphatidylinositol remodeling in advanced liver disease. Journal of lipid research 27 35636492
2021 LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol. Biochimica et biophysica acta. Molecular and cell biology of lipids 24 33513444
2023 MBOAT7 in liver and extrahepatic diseases. Liver international : official journal of the International Association for the Study of the Liver 21 37605540
2020 Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability. Genomics 21 32645526
2021 PNPLA3, TM6SF2, and MBOAT7 Influence on Nutraceutical Therapy Response for Non-alcoholic Fatty Liver Disease: A Randomized Controlled Trial. Frontiers in medicine 20 34692725
2020 MBOAT7-driven phosphatidylinositol remodeling promotes the progression of clear cell renal carcinoma. Molecular metabolism 20 32180553
2019 Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect. Journal of inherited metabolic disease 20 30701556
2019 Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC medical genetics 19 31852446
2018 Evidence for PTGER4, PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level. Cancer medicine 19 30191681
2023 The structure of phosphatidylinositol remodeling MBOAT7 reveals its catalytic mechanism and enables inhibitor identification. Nature communications 17 37316513
2019 Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 16 31282596
2021 Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children. Nutrition, metabolism, and cardiovascular diseases : NMCD 15 33810963
2024 Low MBOAT7 expression, a genetic risk for MASH, promotes a profibrotic pathway involving hepatocyte TAZ upregulation. Hepatology (Baltimore, Md.) 14 38776184
2018 Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients. Scientific reports 13 30116012
2023 MBOAT7-driven lysophosphatidylinositol acylation in adipocytes contributes to systemic glucose homeostasis. Journal of lipid research 12 36806709
2023 Enhancing Hepatic MBOAT7 Expression in Mice With Nonalcoholic Steatohepatitis. Gastro hep advances 12 37293574
2023 MBOAT7 rs641738 (C>T) is associated with NAFLD progression in men and decreased ASCVD risk in elder Chinese population. Frontiers in endocrinology 12 37424875
2022 Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability. Frontiers in neurology 12 35509994
2020 A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. American journal of medical genetics. Part A 12 32744787
2024 Membrane-bound O-acyltransferase 7 (MBOAT7) shapes lysosomal lipid homeostasis and function to control alcohol-associated liver injury. eLife 11 38648183
2021 The PNPLA3 rs738409 Variant but not MBOAT7 rs641738 is a Risk Factor for Nonalcoholic Fatty Liver Disease in Obese U.S. Children of Hispanic Ethnicity. Pediatric gastroenterology, hepatology & nutrition 11 34557398
2020 The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis. Clinics and research in hepatology and gastroenterology 10 31928970
2020 Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families. Frontiers in pediatrics 10 33335874
2023 Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder. Clinical genetics 6 38088234
2023 Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review. Genes 5 37628684
2021 MBOAT7-TMC4 rs641738 Is Not Associated With the Risk of Hepatocellular Carcinoma or Persistent Hepatitis B Infection. Frontiers in oncology 5 34113561
2025 Polymorphism's MBOAT7 as Risk and MTARC1 as Protection for Liver Fibrosis in MASLD. International journal of molecular sciences 4 40650184
2023 MBOAT7 rs641738 variant in metabolic-dysfunction-associated fatty liver disease and cardiovascular risk. Medicine and pharmacy reports 4 36818318
2025 Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration. Science translational medicine 2 39742503
2025 Association between single nucleotide polymorphisms in PNPLA3, TM6SF2 and MBOAT7 genes and markers of cancer aggressiveness in a Sri Lankan NASH-related HCC cohort. BMC gastroenterology 2 40065199
2024 Membrane Bound O-Acyltransferase 7 (MBOAT7) Shapes Lysosomal Lipid Homeostasis and Function to Control Alcohol-Associated Liver Injury. bioRxiv : the preprint server for biology 2 37808828
2023 Effects of MBOAT7 polymorphism and steatosis on liver function assessed by methacetin breath test. European journal of clinical investigation 2 37029745
2025 The correlation between the polymorphism of lysolecithin acyltransferase (MBOAT7) rs641738 and liver fibrosis. Personalized medicine 1 40055064
2025 Contribution of PNPLA3, GCKR, MBOAT7, NCAN, and TM6SF2 Genetic Variants to Hepatocellular Carcinoma Development in Mexican Patients. International journal of molecular sciences 1 40806538
2025 Impact of genotyping (PTPN2, rs2542151) and (MBOAT7, rs641738) in prediction of fibrosis in Metabolic dysfunction- associated steatotic liver disease' patients. Frontiers in endocrinology 1 41019340
2024 MBOAT7 expression is associated with disease progression in COVID-19 patients. Molecular biology reports 1 38183501
2024 A Cell Specific Effect of MBOAT7 MAFLD-risk Variant on Immune Cells. Frontiers in bioscience (Landmark edition) 1 38682204
2024 Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance. Annals of medicine and surgery (2012) 1 38694353
2025 A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance. Biochemical genetics 0 41099992
2025 LPLAT11/MBOAT7-driven phosphatidylinositol remodeling ensures radial glial cell integrity in developing neocortex. iScience 0 41488780

Missed literature

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