Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8694
Gene name Gene Name - the full gene name approved by the HGNC.
Diacylglycerol O-acyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DGAT1
Synonyms (NCBI Gene) Gene synonyms aliases
ARAT, ARGP1, DGAT, DIAR7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DIAR7
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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. Activit
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554847009 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1588689245 C>- Pathogenic Frameshift variant, initiator codon variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006524 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006524 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006524 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006524 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT029044 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003846 Function 2-acylglycerol O-acyltransferase activity IEA
GO:0004144 Function Diacylglycerol O-acyltransferase activity IBA 21873635
GO:0004144 Function Diacylglycerol O-acyltransferase activity IDA 18458083, 32433610, 32433611
GO:0005515 Function Protein binding IPI 23420847
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604900 2843 ENSG00000185000
Protein
UniProt ID O75907
Protein name Diacylglycerol O-acyltransferase 1 (EC 2.3.1.20) (ACAT-related gene product 1) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diglyceride acyltransferase)
Protein function Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates (PubMed:16214399, PubMed:18768481, PubMed:28420705, PubMed:32433610, PubMed:32433611, PubMed:9756920). Highly ex
PDB 6VP0 , 6VYI , 6VZ1 , 8ESM , 8ETM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03062 MBOAT 153 474 MBOAT, membrane-bound O-acyltransferase family Family
Sequence
Sequence length 488
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerolipid metabolism
Retinol metabolism
Metabolic pathways
Fat digestion and absorption
  Acyl chain remodeling of DAG and TAG
Neutrophil degranulation
Triglyceride biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Protein-losing enteropathy Protein-Losing Enteropathies rs1114167430, rs1135402914, rs1135402915, rs1135402916, rs1135402917, rs1135402918
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33050938
Carcinogenesis Associate 35764091
Carcinoma Renal Cell Associate 35764091, 36728187
Colorectal Neoplasms Associate 37705049
Diabetes Gestational Inhibit 24262292
Diabetes Mellitus Associate 26883093
Diabetes Mellitus Type 2 Associate 26493024
Diarrhea Associate 29604290, 33261563, 36315449
Diarrhea 5 With Tufting Enteropathy Congenital Associate 36315449
Dysentery Associate 29604290