MBOAT7

Chr 19q13.42

membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

Aliases:: BB1, hMBOA-7, LPLAT, LPIAT1, LPLAT11
MANE:: ENST00000245615.6

OMIM: 606048 ↗NCBI: 79143 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MBOAT7 · Q96N66

v62025-08-01

Predicted Aligned Error matrix for MBOAT7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.0/ 100

Very high

472 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)9%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual disability, autosomal recessive 57
0.75
hereditary disease
0.49
autosomal recessive non-syndromic intellectual disability
0.46
complex neurodevelopmental disorder
0.37
neurodegenerative disease
0.34
Neurodevelopmental abnormality
0.34
Intellectual disability
0.31
metabolic dysfunction-associated steatotic liver disease
0.09
metabolic dysfunction-associated steatohepatitis
0.09
nonpapillary renal cell carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle (PubMed:18094042, PubMed:18772128). Prefers arachidonoyl-CoA as the acyl donor, thus contributing to the regulation of free levels arachidonic acid in cell (PubMed:18094042, PubMed:18772128). In liver, participates in the regulation of triglyceride metabolism through the phosphatidylinositol acyl-chain remodeling regulation (PubMed:32253259)