MBOAT1
Membrane Bound O-Acyltransferase Domain Containing 1
Gene Information Card
| Symbol | MBOAT1 |
|---|---|
| Full Name | Membrane Bound O-Acyltransferase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 154141 ncbi.nlm.nih.gov/gene/154141 |
| Ensembl ID | ENSG00000172197 |
| UniProt ID | Q6ZNC8 |
| OMIM ID | 611732 |
| HGNC ID | 23277 |
| Aliases | LPEAT, MBOAT, OACT1, LPCAT, LPLAT |
Description
MBOAT1 encodes a member of the membrane-bound O-acyltransferase family. The protein functions as a lysophospholipid acyltransferase, specifically catalyzing the acylation of lysophosphatidylethanolamine to produce phosphatidylethanolamine. It is involved in phospholipid remodeling and may play a role in lipid metabolism and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect phospholipid composition and signaling pathways; potential oncogenic role | COSMIC database reports mutations in multiple cancer types |
| Intellectual disability | Rare copy number variants involving MBOAT1 have been reported in some cases | ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • integral component of membrane (GO:0016021) |
| • phosphatidylcholine biosynthetic process (GO:0006656) | • phosphatidylethanolamine biosynthetic process (GO:0006658) |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid remodeling (Reactome: R-HSA-1482788)
Protein Summary
MBOAT1 is a 503-amino acid multi-pass membrane protein localized to the endoplasmic reticulum. It belongs to the MBOAT family and catalyzes the conversion of lysophosphatidylethanolamine to phosphatidylethanolamine, contributing to membrane lipid homeostasis. The protein contains a conserved acyltransferase domain and is expressed in various tissues, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBOAT1 Knockout HEK293 Cell Line | EDJ-KQ10871 | Human | 154141 | Details Get a Quote |
| MBOAT1 Knockout A-549 Cell Line | EDJ-KQ39880 | Human | 154141 | Details Get a Quote |
| MBOAT1 Knockout HCT 116 Cell Line | EDJ-KQ39881 | Human | 154141 | Details Get a Quote |
| MBOAT1 Knockout HeLa Cell Line | EDJ-KQ39882 | Human | 154141 | Details Get a Quote |
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