DGAT1

diacylglycerol O-acyltransferase 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 8:144314584-144326910

Previous symbols: [ "DGAT" ]

Links

ENSG00000185000NCBI:8694OMIM:604900HGNC:2843Uniprot:O75907AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • congenital diarrhea 7 with exudative enteropathy (Strong), mode of inheritance: AR
  • congenital diarrhea 7 with exudative enteropathy (Moderate), mode of inheritance: AR
  • congenital diarrhea 7 with exudative enteropathy (Supportive), mode of inheritance: AR
  • congenital diarrhea 7 with exudative enteropathy (Strong), mode of inheritance: AR
  • congenital diarrhea 7 with exudative enteropathy (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diarrhea 7, protein-losing enteropathy typeARGastrointestinalIndividuals may present in infancy with severe diarrhea, protein-losing enteropathy, metabolic acidosis, and electrolyte disturbances, and preventive measures and early treatment (including TPN) may be beneficialGastrointestinal23114594

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DGAT1 gene.

  • not_provided (667 variants)
  • Inborn_genetic_diseases (49 variants)
  • Congenital_diarrhea_7_with_exudative_enteropathy (47 variants)
  • DGAT1-related_disorder (17 variants)
  • not_specified (3 variants)
  • Diarrhea (1 variants)
  • Congenital_diarrhea_5_with_tufting_enteropathy (1 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DGAT1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012079.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
194
clinvar
8
clinvar
204
missense
2
clinvar
6
clinvar
159
clinvar
8
clinvar
1
clinvar
176
nonsense
8
clinvar
5
clinvar
1
clinvar
14
start loss
1
1
frameshift
23
clinvar
6
clinvar
1
clinvar
30
splice donor/acceptor (+/-2bp)
2
clinvar
21
clinvar
1
clinvar
24
Total 35 39 164 202 9

Highest pathogenic variant AF is 0.000117206

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DGAT1protein_codingprotein_codingENST00000332324 1710620
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.41e-170.02161256630781257410.000310
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.042292780.8240.00001833131
Missense in Polyphen88108.860.808381175
Synonymous-1.111281131.130.00000768963
Loss of Function0.5812831.50.8880.00000159325

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002420.000239
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.0005590.000554
European (Non-Finnish)0.0003660.000360
Middle Eastern0.0002180.000217
South Asian0.0004290.000425
Other0.0003310.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. 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. {ECO:0000269|PubMed:16214399, ECO:0000269|PubMed:9756920}.;
Disease
DISEASE: Diarrhea 7 (DIAR7) [MIM:615863]: A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Retinol metabolism - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Statin Pathway, Pharmacodynamics;Vitamin A Deficiency;Retinol Metabolism;Triacylglyceride Synthesis;Statin Pathway;Vitamin A and Carotenoid Metabolism;Neutrophil degranulation;Metabolism of lipids;Acyl chain remodeling of DAG and TAG;Innate Immune System;Immune System;Metabolism;Glycerophospholipid metabolism;Triglyceride biosynthesis;Triglyceride metabolism;triacylglycerol biosynthesis;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

pRec
0.342

Intolerance Scores

loftool
0.812
rvis_EVS
-0.84
rvis_percentile_EVS
11.36

Haploinsufficiency Scores

pHI
0.213
hipred
N
hipred_score
0.230
ghis
0.470

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.914

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dgat1
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); digestive/alimentary phenotype; reproductive system phenotype;

Gene ontology

Biological process
triglyceride metabolic process;triglyceride biosynthetic process;lipid storage;very-low-density lipoprotein particle assembly;long-chain fatty-acyl-CoA metabolic process;acylglycerol acyl-chain remodeling;retinol metabolic process;neutrophil degranulation;diacylglycerol metabolic process;fatty acid homeostasis
Cellular component
endoplasmic reticulum membrane;plasma membrane;integral component of membrane;specific granule membrane
Molecular function
2-acylglycerol O-acyltransferase activity;diacylglycerol O-acyltransferase activity;protein binding;transferase activity, transferring acyl groups;retinol O-fatty-acyltransferase activity