DGAT1 Gene: Diacylglycerol O-Acyltransferase 1
Key enzyme in triglyceride synthesis, linked to metabolic and intestinal disorders
Gene Information Card
| Symbol | DGAT1 |
|---|---|
| Full Name | Diacylglycerol O-Acyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 8694 ncbi.nlm.nih.gov/gene/8694 |
| Ensembl ID | ENSG00000185000 |
| UniProt ID | O75907 |
| OMIM ID | 604900 |
| HGNC ID | 2843 |
| Aliases | DIAR7, ARAT, DGAT, ACAT-related gene 1 |
Description
The DGAT1 gene encodes diacylglycerol O-acyltransferase 1, a key enzyme that catalyzes the final step in triglyceride synthesis by transferring an acyl group from acyl-CoA to diacylglycerol. It is expressed in multiple tissues, particularly adipose tissue, intestine, and liver, and plays a critical role in energy storage, lipid metabolism, and intestinal fat absorption. Mutations in DGAT1 can lead to congenital diarrheal disorder and other metabolic abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital diarrheal disorder (DIAR7) | Loss-of-function mutations impair triglyceride synthesis in enterocytes, leading to fat malabsorption and severe diarrhea. | ClinVar, OMIM |
| Growth retardation | DGAT1 deficiency disrupts energy storage, contributing to failure to thrive in affected individuals. | OMIM |
| Metabolic syndrome (potential) | Altered DGAT1 activity may influence lipid accumulation and insulin sensitivity, though evidence is still emerging. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Small intestine | High | High |
| Liver | Medium | Medium |
| Skeletal muscle | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | Medium | Hepatocyte model |
| Caco-2 (intestinal) | High | Enterocyte-like |
| 3T3-L1 (adipocyte) | High | Differentiated adipocytes |
| HeLa (cervical) | Low | Non-specific |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.757+1G>A | Splice site | Rare | Loss of function, causes congenital diarrheal disorder |
| p.Leu378Pro | Missense | Rare | Loss of function, reduced enzyme activity |
| p.Arg364* | Nonsense | Rare | Truncated protein, loss of function |
| p.Gly318Val | Missense | Rare | Likely loss of function, associated with diarrhea |
Mutation functional classification
Loss of Function (LOF)
Most DGAT1 mutations are loss-of-function, leading to reduced or absent enzyme activity, causing fat malabsorption and congenital diarrhea.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DGAT1.
Dominant Negative (DN)
No dominant-negative effects have been documented; DGAT1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • acyltransferase activity | • diacylglycerol O-acyltransferase activity |
| • lipid metabolic process | • triglyceride biosynthetic process |
| • endoplasmic reticulum membrane | • integral component of membrane |
Pathways
• Triglyceride biosynthesis
• Glycerolipid metabolism
• Fat digestion and absorption
Protein Summary
DGAT1 is a 498-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the final step in triglyceride synthesis, using acyl-CoA and diacylglycerol as substrates. The enzyme is critical for intestinal fat absorption and energy storage in adipose tissue. Deficiency leads to severe lipid malabsorption and growth failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGAT1 Knockout HeLa Cell Line | EDJ-KQ32 | Human | 8694 | Details Get a Quote |
| DGAT1 Knockout IPI-2I Cell Line | EDJ-KQ69 | Porcine | 397118 | Details Get a Quote |
| DGAT1 Knockout HEK293 Cell Line | EDJ-KQ2921 | Human | 8694 | Details Get a Quote |
| DGAT1 Knockout A-549 Cell Line | EDJ-KQ24017 | Human | 8694 | Details Get a Quote |
| DGAT1 Knockout HCT 116 Cell Line | EDJ-KQ24018 | Human | 8694 | Details Get a Quote |
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