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

    Gene ID: 8694, updated on 2-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
    mouse all
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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. 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
    2. Evaluation of a potential transporter-mediated drug interaction between rosuvastatin and pradigastat, a novel DGAT-1 inhibitor. Kulmatycki K, et al. Int J Clin Pharmacol Ther, 2015 May. PMID 25740267
    3. Prolonged silencing of diacylglycerol acyltransferase-1 induces a dedifferentiated phenotype in human liver cells. Chang S, et al. J Cell Mol Med, 2016 Jan. PMID 26493024, Free PMC Article
    4. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Stephen J, et al. Eur J Hum Genet, 2016 Aug. PMID 26883093, Free PMC Article
    5. Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. Gluchowski NL, et al. J Lipid Res, 2017 Jun. PMID 28373485, Free PMC Article

    See all (80) 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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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