• Gene id: 8694

Gene Summary

• Gene Symbol: DGAT1   Gene   UCSC   Ensembl
• Aliases: ARAT, ARGP1, DGAT, DIAR7
• Gene name: diacylglycerol O-acyltransferase 1
• Alternate names: diacylglycerol O-acyltransferase 1, ACAT related gene product 1, acyl coenzyme A:cholesterol acyltransferase related gene 1, acyl-CoA retinol O-fatty-acyltransferase, acyl-CoA:diacylglycerol acyltransferase, diacylglycerol O-acyltransferase homolog, diglyceride,
• Gene location: 8q24.3 (144326851: 144314583)     Exons: 8     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 604900

Protein Summary

• Protein general information: O75907  
  • 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)
  • Length: 488  
  • Mass: 55278
• Sequence:

  MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSL
  FSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQV
  EKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKA
  ASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
  VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQ
  NWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQG
  NYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA

• Structural information:
  • Interpro: IPR027251  IPR004299  IPR014371  
  • STRING: ENSP00000482264
• Other Databases: GeneCards:  DGAT1  Malacards:  DGAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008374	O-acyltransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004144	diacylglycerol O-acyltransferase activity	IBA	molecular function
GO:0019432	triglyceride biosynthetic process	IBA	biological process
GO:0006640	monoacylglycerol biosynthetic process	IDA	biological process
GO:0004144	diacylglycerol O-acyltransferase activity	IEA	molecular function
GO:0008374	O-acyltransferase activity	IEA	molecular function
GO:0019432	triglyceride biosynthetic process	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004144	diacylglycerol O-acyltransferase activity	TAS	molecular function
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0006641	triglyceride metabolic process	TAS	biological process
GO:0004144	diacylglycerol O-acyltransferase activity	IEA	molecular function
GO:0050252	retinol O-fatty-acyltransferase activity	IEA	molecular function
GO:0004144	diacylglycerol O-acyltransferase activity	IDA	molecular function
GO:0019432	triglyceride biosynthetic process	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0019432	triglyceride biosynthetic process	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0036155	acylglycerol acyl-chain remodeling	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004144	diacylglycerol O-acyltransferase activity	IEA	molecular function
GO:0035336	long-chain fatty-acyl-CoA metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0003846	2-acylglycerol O-acyltransferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019432	triglyceride biosynthetic process	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0046339	diacylglycerol metabolic process	IEA	biological process
GO:0055089	fatty acid homeostasis	IEA	biological process
GO:0035336	long-chain fatty-acyl-CoA metabolic process	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0019915	lipid storage	ISS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IMP	biological process
GO:0046339	diacylglycerol metabolic process	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0046486	glycerolipid metabolic process	IEA	biological process
GO:0019432	triglyceride biosynthetic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism
hsa00830	Retinol metabolism
hsa04975	Fat digestion and absorption

Diseases

Associated diseases	References
Congenital diarrhea	KEGG:H01174
Cardiomyopathy	PMID:21220706
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray