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

Summary

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

Location:: 8q24.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144314584..144326852, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145483219..145495487, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145538247..145550515, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Lipid droplets in Zika neuroinfection: Potential targets for intervention?
Title: Lipid droplets in Zika neuroinfection: Potential targets for intervention?
Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
Title: Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma.
Title: DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma.
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.
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.
Targeting DGAT1 Ameliorates Glioblastoma by Increasing Fat Catabolism and Oxidative Stress.
Title: Targeting DGAT1 Ameliorates Glioblastoma by Increasing Fat Catabolism and Oxidative Stress.
Loss of ephrin B2 receptor (EPHB2) sets lipid rheostat by regulating proteins DGAT1 and ATGL inducing lipid droplet storage in prostate cancer cells.
Title: Loss of ephrin B2 receptor (EPHB2) sets lipid rheostat by regulating proteins DGAT1 and ATGL inducing lipid droplet storage in prostate cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (48)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M64673 (e-PCR)
- UniSTS:47479

D8S1577E (e-PCR)
- UniSTS:153767

DGAT1_8848 (e-PCR)
- UniSTS:467646

RH79683 (e-PCR)
- UniSTS:85756

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

EC 2.3.1.20

EC 2.3.1.76

XP_011515658.1

EC 2.3.1.20

EC 2.3.1.76

XP_047278343.1

EC 2.3.1.20

EC 2.3.1.76

XP_047278344.1

EC 2.3.1.20

EC 2.3.1.76

XP_047278345.1

EC 2.3.1.20

EC 2.3.1.76

XP_054188186.1

EC 2.3.1.20

EC 2.3.1.76

XP_054188187.1

EC 2.3.1.20

EC 2.3.1.76

XP_054217410.1

EC 2.3.1.20

EC 2.3.1.76

XP_054217411.1

EC 2.3.1.20

EC 2.3.1.76

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

NG_034192.1 RefSeqGene

Range

5068..17336

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

144314584..144326852 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422387.1 → XP_047278343.1 diacylglycerol O-acyltransferase 1 isoform X2
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
XM_047422389.1 → XP_047278345.1 diacylglycerol O-acyltransferase 1 isoform X3
XM_047422388.1 → XP_047278344.1 diacylglycerol O-acyltransferase 1 isoform X3