DGAT1

Chr 8AR

diacylglycerol O-acyltransferase 1

Also known as: ARAT, ARGP1, DGAT, DIAR7

NCBI Gene: 8694ENSG00000185000UniProt: O75907OMIM: 604900

This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]

GeneReviewsOMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.221 OMIM phenotype
Clinical Summary— DGAT1
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
76 unique Pathogenic / Likely Pathogenic· 201 VUS of 786 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — DGAT1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.58
OE 0.89 (0.66–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.04Z-score
OE missense 0.82 (0.74–0.92)
229 obs / 277.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.66–1.22)
0≤0.351.4
Missense OE?0.82 (0.74–0.92)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 28 / 31.5Missense obs/exp: 229 / 277.9Syn Z: -1.11
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedDGAT1-related congenital diarrheal disorderLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6842th %ile
GOF
0.7029th %ile
LOF
0.3550th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

786 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic38
VUS201
Likely Benign452
Benign27
Conflicting12
38
Pathogenic
38
Likely Pathogenic
201
VUS
452
Likely Benign
27
Benign
12
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
37
0
1
0
38
Likely Pathogenic
30
7
1
0
38
VUS
3
175
21
2
201
Likely Benign
0
4
248
200
452
Benign
0
2
16
9
27
Conflicting
—12
Total70188287211768

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

58 pathogenic / likely-pathogenic (of 72) ClinVar copy-number / structural variants overlap DGAT1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

DGAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients