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DGAT1 diacylglycerol O-acyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 8694, updated on 3-Nov-2024

Summary

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Official Symbol
DGAT1provided by HGNC
Official Full Name
diacylglycerol O-acyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:2843
See related
Ensembl:ENSG00000185000 MIM:604900; AllianceGenome:HGNC:2843
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARAT; DGAT; ARGP1; DIAR7
Summary
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]
Expression
Broad expression in small intestine (RPKM 98.7), duodenum (RPKM 96.5) and 20 other tissues See more
Orthologs
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Genomic context

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See DGAT1 in Genome Data Viewer
Location:
8q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144314584..144326852, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145483219..145495487, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145538247..145550515, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145321725-145322492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145322493-145323258 Neighboring gene microRNA 7112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145494989-145495632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145495633-145496276 Neighboring gene BOP1 ribosomal biogenesis factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145498855-145499497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19669 Neighboring gene scleraxis bHLH transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145515765-145516421 Neighboring gene heat shock transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145536471-145537002 Neighboring gene uncharacterized LOC124902050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145543593-145544435 Neighboring gene microRNA 6848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145555531-145556238 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556239-145556947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556948-145557655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145558559-145559174 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145559298-145559484 Neighboring gene scratch family transcriptional repressor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145566939-145567080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19675 Neighboring gene transmembrane protein 249

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Diacylglycerol acyltransferase 1 inhibition with AZD7687 alters lipid handling and hormone secretion in the gut with intolerable side effects: a randomized clinical trial. Denison H, et al. Diabetes Obes Metab, 2014 Apr. PMID 24118885
  2. Structure and mechanism of human diacylglycerol O-acyltransferase 1. Wang L, et al. Nature, 2020 May. PMID 32433610, Free PMC Article
  3. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Gupta A, et al. Eur J Med Genet, 2020 Apr. PMID 31778854
  4. A population analysis of the DGAT1 inhibitor GSK3008356 and its effect on endogenous and meal-induced triglyceride turnover in healthy subjects. Okour M, et al. Fundam Clin Pharmacol, 2019 Oct. PMID 30790345
  5. Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase. Schlegel C, et al. Traffic, 2018 Nov. PMID 30095213, Free PMC Article

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DGAT2 stability is increased in response to DGAT1 inhibition in gene edited HepG2 cells.
    Title: DGAT2 stability is increased in response to DGAT1 inhibition in gene edited HepG2 cells.
  2. The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications.
    Title: The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications.
  3. Targeting DGAT1 inhibits prostate cancer cells growth by inducing autophagy flux blockage via oxidative stress.
    Title: Targeting DGAT1 inhibits prostate cancer cells growth by inducing autophagy flux blockage via oxidative stress.
  4. The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.
    Title: The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.
  5. Lipid droplets in Zika neuroinfection: Potential targets for intervention?
    Title: Lipid droplets in Zika neuroinfection: Potential targets for intervention?
  6. Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
    Title: Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
  7. DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma.
    Title: DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma.
  8. An oncogenic JMJD6-DGAT1 axis tunes the epigenetic regulation of lipid droplet formation in clear cell renal cell carcinoma.
    Title: An oncogenic JMJD6-DGAT1 axis tunes the epigenetic regulation of lipid droplet formation in clear cell renal cell carcinoma.
  9. DGAT1 Expression Promotes Ovarian Cancer Progression and Is Associated with Poor Prognosis.
    Title: DGAT1 Expression Promotes Ovarian Cancer Progression and Is Associated with Poor Prognosis.
  10. Targeting DGAT1 Ameliorates Glioblastoma by Increasing Fat Catabolism and Oxidative Stress.
    Title: Targeting DGAT1 Ameliorates Glioblastoma by Increasing Fat Catabolism and Oxidative Stress.
Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital diarrhea 7 with exudative enteropathy
MedGen: C4014516 OMIM: 615863 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-acylglycerol O-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables acyltransferase activity TAS
Traceable Author Statement
more info
 PubMed 
enables diacylglycerol O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables diacylglycerol O-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retinol O-fatty-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in diacylglycerol metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in diacylglycerol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid storage ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in long-chain fatty-acyl-CoA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in monoacylglycerol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in triglyceride biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within triglyceride biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in very-low-density lipoprotein particle assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
diacylglycerol O-acyltransferase 1
Names
ACAT related gene product 1
acyl coenzyme A:cholesterol acyltransferase related gene 1
acyl-CoA retinol O-fatty-acyltransferase
acyl-CoA:diacylglycerol acyltransferase
diglyceride acyltransferase
NP_036211.2
XP_011515658.1
XP_047278343.1
XP_047278344.1
XP_047278345.1
XP_054188186.1
XP_054188187.1
XP_054217410.1
XP_054217411.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034192.1 RefSeqGene

    Range
    5068..17336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012079.6 → NP_036211.2  diacylglycerol O-acyltransferase 1

    See identical proteins and their annotated locations for NP_036211.2

    Status: REVIEWED

    Source sequence(s)
    AC233992, BC023565
    Consensus CDS
    CCDS6420.1
    UniProtKB/Swiss-Prot
    B2RWQ2, D3DWL6, O75907, Q96BB8
    UniProtKB/TrEMBL
    Q9BRH5
    Related
    ENSP00000482264.1, ENST00000528718.6
    Conserved Domains (1) summary
    cl00738
    Location:70 → 472
    MBOAT; membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144314584..144326852 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422387.1 → XP_047278343.1  diacylglycerol O-acyltransferase 1 isoform X2

  2. XM_011517356.4 → XP_011515658.1  diacylglycerol O-acyltransferase 1 isoform X1

    UniProtKB/TrEMBL
    Q9BRH5
    Conserved Domains (1) summary
    cl00738
    Location:13 → 415
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  3. XM_047422389.1 → XP_047278345.1  diacylglycerol O-acyltransferase 1 isoform X3

  4. XM_047422388.1 → XP_047278344.1  diacylglycerol O-acyltransferase 1 isoform X3

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p14 PATCHES

    Range
    45187..57455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332212.1 → XP_054188187.1  diacylglycerol O-acyltransferase 1 isoform X2

  2. XM_054332211.1 → XP_054188186.1  diacylglycerol O-acyltransferase 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145483219..145495487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361436.1 → XP_054217411.1  diacylglycerol O-acyltransferase 1 isoform X2

  2. XM_054361435.1 → XP_054217410.1  diacylglycerol O-acyltransferase 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75907.2 GenPept UniProtKB/Swiss-Prot:O75907

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