MBOAT4 (Membrane Bound O-Acyltransferase Domain Containing 4)
Ghrelin O-Acyltransferase (GOAT) – Key Enzyme in Ghrelin Activation and Energy Metabolism
Gene Information Card
| Symbol | MBOAT4 |
|---|---|
| Full Name | Membrane Bound O-Acyltransferase Domain Containing 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 619373 ncbi.nlm.nih.gov/gene/619373 |
| Ensembl ID | ENSG00000177679 |
| UniProt ID | Q96T53 |
| OMIM ID | 611248 |
| HGNC ID | 26285 |
| Aliases | GOAT, OACT4, MBOAT4, ghrelin O-acyltransferase |
Description
MBOAT4 encodes ghrelin O-acyltransferase (GOAT), a membrane-bound enzyme that catalyzes the octanoylation of ghrelin, a key step for ghrelin's biological activity. GOAT is predominantly expressed in the stomach and pancreas and plays a critical role in energy homeostasis, appetite regulation, and growth hormone secretion. The enzyme belongs to the membrane-bound O-acyltransferase family and is a potential therapeutic target for obesity, diabetes, and cachexia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | GOAT activity modulates ghrelin acylation, influencing appetite and energy balance; variants may alter susceptibility | PMID: 19037247, ClinVar |
| Type 2 Diabetes | Altered ghrelin acylation affects insulin secretion and glucose metabolism; GOAT inhibition improves glycemic control in models | PMID: 21700842 |
| Prader-Willi Syndrome | Elevated acyl-ghrelin levels due to GOAT dysregulation contribute to hyperphagia | PMID: 23386699 |
| Cachexia | GOAT inhibition reduces acyl-ghrelin, potentially mitigating muscle wasting in chronic disease | PMID: 25600242 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Colon | 4.2 | Low |
| Testis | 3.8 | Low |
| Adipose tissue | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 15.2 | High expression |
| PANC-1 (pancreatic) | 9.7 | Moderate expression |
| HCT116 (colorectal) | 5.4 | Low expression |
| HepG2 (hepatocellular) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced enzyme activity in vitro |
| c.839G>A (p.Arg280His) | Missense | 0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Thr125Met reduces GOAT catalytic activity, impairing ghrelin acylation.
Gain of Function (GOF)
No confirmed gain-of-function variants reported in MBOAT4.
Dominant Negative (DN)
No dominant-negative mutations described for MBOAT4.
View complete mutation data：
Gene Ontology (GO)
| • O-acyltransferase activity (GO:0008374) | • acyltransferase activity (GO:0016746) |
| • integral component of membrane (GO:0016021) | • response to insulin (GO:0032868) |
| • glucose homeostasis (GO:0042593) | • proteolysis (GO:0006508) |
Pathways
• Ghrelin synthesis and secretion (Reactome: R-HSA-422085)
• Regulation of appetite and energy homeostasis (KEGG: hsa04930)
Protein Summary
Ghrelin O-acyltransferase (GOAT) is a 435-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of an octanoyl group from octanoyl-CoA to the serine-3 residue of pro-ghrelin, producing active acyl-ghrelin. GOAT is essential for ghrelin's endocrine functions, including growth hormone release, appetite stimulation, and glucose metabolism. Its structure includes multiple transmembrane domains and a conserved catalytic histidine residue. GOAT is a target for therapeutic modulation in metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBOAT4 Knockout HEK293 Cell Line | EDJ-KQ14213 | Human | 619373 | Details Get a Quote |
| MBOAT4 Knockout HeLa Cell Line | EDJ-KQ60520 | Human | 619373 | Details Get a Quote |
| MBOAT4 Knockout A-549 Cell Line | EDJ-KQ68989 | Human | 619373 | Details Get a Quote |
| MBOAT4 Knockout HCT 116 Cell Line | EDJ-KQ77347 | Human | 619373 | Details Get a Quote |
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