MBOAT7
Membrane Bound O-Acyltransferase Domain Containing 7
Gene Information Card
| Symbol | MBOAT7 |
|---|---|
| Full Name | Membrane Bound O-Acyltransferase Domain Containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 79143 ncbi.nlm.nih.gov/gene/79143 |
| Ensembl ID | ENSG00000105509 |
| UniProt ID | Q96N66 |
| OMIM ID | 612194 |
| HGNC ID | 24805 |
| Aliases | LPIAT1, MBOA7, OACT7, LPLAT11 |
Description
MBOAT7 encodes a membrane-bound O-acyltransferase that catalyzes the transfer of acyl groups from acyl-CoA to lysophosphatidylinositol (LPI), producing phosphatidylinositol (PI). This enzyme is critical for phospholipid remodeling, particularly in the brain and liver. Mutations in MBOAT7 are associated with autosomal recessive intellectual disability and susceptibility to nonalcoholic fatty liver disease (NAFLD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with or without epilepsy (IDDE) | Loss-of-function mutations impair PI synthesis, affecting neuronal membrane composition and signaling | ClinVar, OMIM |
| Nonalcoholic fatty liver disease (NAFLD) | Reduced MBOAT7 activity alters hepatic phospholipid profiles, promoting steatosis | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Adipose tissue | 4.1 | Low |
| Kidney | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 15.1 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; associated with IDDE |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with IDDE |
| rs641738 (C>T) | Intronic variant | Common (allele frequency ~0.3) | Associated with increased NAFLD risk |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing PI synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity | • phosphatidylinositol biosynthetic process |
| • membrane | • endoplasmic reticulum |
Pathways
• Glycerophospholipid metabolism
• Phosphatidylinositol (PI) biosynthesis
Protein Summary
MBOAT7 is a 472-amino acid integral membrane protein localized to the endoplasmic reticulum. It contains a conserved O-acyltransferase domain and is responsible for the acylation of lysophosphatidylinositol to form phosphatidylinositol, a key phospholipid in cellular membranes and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBOAT7 Knockout HEK293 Cell Line | EDJ-KQ13424 | Human | 79143 | Details Get a Quote |
| MBOAT7 Knockout A-549 Cell Line | EDJ-KQ44170 | Human | 79143 | Details Get a Quote |
| MBOAT7 Knockout HCT 116 Cell Line | EDJ-KQ44171 | Human | 79143 | Details Get a Quote |
| MBOAT7 Knockout HeLa Cell Line | EDJ-KQ44172 | Human | 79143 | Details Get a Quote |
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