MBOAT7
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants.
Full Name
MEMBRANE BOUND O-ACYLTRANSFERASE DOMAIN CONTAINING 7
Function
Acyltransferase which catalyzes the transfert 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:18772128, PubMed:18094042).
Prefers arachidonoyl-CoA as the acyl donor, thus contributing to the regulation of free levels arachidonic acid in cell (PubMed:18772128, PubMed:18094042).
In liver, participates in the regulation of triglyceride metabolism through the phosphatidylinositol acyl-chain remodeling regulation (PubMed:32253259).
Biological Process
Layer formation in cerebral cortex Source: UniProtKB
Lipid modification Source: GO_Central
Phosphatidylcholine acyl-chain remodeling Source: UniProtKB
Phosphatidylinositol acyl-chain remodeling Source: UniProtKB
Phosphatidylinositol biosynthetic process Source: UniProtKB
Regulation of triglyceride metabolic process Source: UniProtKB
Ventricular system development Source: Ensembl
Cellular Location
Endoplasmic reticulum membrane
Note: Localized in specific membrane structures termed mitochondria-associated membranes (MAMs) which connect the endoplasmic reticulum (ER) and the mitochondria.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 57 (MRT57):
A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features.
Topology
Cytoplasmic: 1-5
Helical: 6-22
Lumenal: 23-33
Helical: 34-57
Cytoplasmic: 58-73
Helical: 74-93
Lumenal: 94-194
Helical: 195-212
Cytoplasmic: 213-231
Helical: 232-261
Lumenal: 262-426
Helical: 427-447
Cytoplasmic: 448-472
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Datasheet