DGAT1

Chr 8q24.3

diacylglycerol O-acyltransferase 1

Aliases:: ARGP1
MANE:: ENST00000528718.6

OMIM: 604900 ↗NCBI: 8694 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DGAT1 · O75907

v62025-08-01

Predicted Aligned Error matrix for DGAT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.3/ 100

Confident

488 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)28%
Low(50–70)7%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital diarrhea 7 with exudative enteropathy
0.70
Diarrhea
0.58
hereditary disease
0.41
Congenital chronic diarrhea with protein-losing enteropathy
0.38
familial chylomicronemia syndrome
0.35
hypertriglyceridemia
0.29
hepatitis C virus infection
0.27
type 2 diabetes mellitus
0.15
Dupuytren Contracture
0.13
congenital diarrhea 5 with tufting enteropathy
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diacylglycerol O-acyltransferase 1

Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates (PubMed:16214399, PubMed:18768481, PubMed:28420705, PubMed:32433610, PubMed:32433611, PubMed:9756920). Highly expressed in epithelial cells of the small intestine and its activity is essential for the absorption of dietary fats (PubMed:18768481). In liver, plays a role in esterifying exogenous fatty acids to glycerol, and is required to synthesize fat for storage (PubMed:16214399). Also present in female mammary glands, where it produces fat in the milk (By similarity). May be involved in VLDL (very low density lipoprotein) assembly (PubMed:18768481). In contrast to DGAT2 it is not essential for survival (By similarity). Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders (PubMed:16214399). Exhibits additional acyltransferase activities, includin acyl CoA:monoacylglycerol acyltransferase (MGAT), wax monoester and wax diester synthases (By similarity). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705)