DGAT1

Diacylglycerol O-acyltransferase 1 is an enzyme that in humans is encoded by the DGAT1 gene.[5]

DGAT1
Identifiers
Aliases	DGAT1, ARAT, ARGP1, DGAT, DIAR7, diacylglycerol O-acyltransferase 1
External IDs	OMIM: 604900 MGI: 1333825 HomoloGene: 7688 GeneCards: DGAT1
EC number	2.3.1.76
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.3 Start 144,314,584 bp[1] End 144,326,910 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 D3|15 35.99 cM Start 76,502,015 bp[2] End 76,511,953 bp[2]
Gene ontology Molecular function • transferase activity • O-acyltransferase activity • GO:0001948 protein binding • 2-acylglycerol O-acyltransferase activity • retinol O-fatty-acyltransferase activity • transferase activity, transferring acyl groups • diacylglycerol O-acyltransferase activity Cellular component • integral component of membrane • endoplasmic reticulum membrane • membrane • intracellular membrane-bounded organelle • endoplasmic reticulum • cell membrane • specific granule membrane Biological process • glycerolipid metabolic process • retinol metabolic process • lipid storage • fatty acid homeostasis • diacylglycerol metabolic process • triglyceride biosynthetic process • very-low-density lipoprotein particle assembly • long-chain fatty-acyl-CoA metabolic process • triglyceride metabolic process • acylglycerol acyl-chain remodeling • neutrophil degranulation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8694	13350
Ensembl	ENSG00000185000 ENSG00000285482	ENSMUSG00000022555
UniProt	O75907	Q9Z2A7
RefSeq (mRNA)	NM_012079	NM_010046
RefSeq (protein)	NP_036211	NP_034176
Location (UCSC)	Chr 8: 144.31 – 144.33 Mb	Chr 15: 76.5 – 76.51 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a 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. [6][7] This enzyme is essential for lactation in mice[7], and mutations in this gene affect the composition and volume of milk produced by both cattle[8] and goats[9]. Without this gene activity, infants who have a mutation in this gene are incapable of breaking down fat. This lack of capability to break down fat causes diarrhea and vomiting which eventually causes FTT (Failure to Thrive) and need of TPN (Total Parenteral Nutrition) if not given correct formula. Further this will cause protein losing enteropathy and very low albumin. [10]

See also

• Diglyceride acyltransferase

References

1. ENSG00000285482 GRCh38: Ensembl release 89: ENSG00000185000, ENSG00000285482 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022555 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Diacylglycerol O-acyltransferase 1". Retrieved 2016-08-28.
6. Yen CL, Stone SJ, Koliwad S, Harris C, Farese RV (2008). "Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis". Journal of Lipid Research. 49 (11): 2283–301. doi:10.1194/jlr.R800018-JLR200. PMC 3837458. PMID 18757836.
7. Smith SJ, Cases S, Jensen DR, Chen HC, Sande E, Tow B, Sanan DA, Raber J, Eckel RH, Farese RV (May 2000). "Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat". Nature Genetics. 25 (1): 87–90. doi:10.1038/75651. PMID 10802663.
8. Grisart B, Coppieters W, Farnir F, Karim L, Ford C, Berzi P, Cambisano N, Mni M, Reid S, Simon P, Spelman R, Georges M, Snell R (February 2002). "Positional Candidate Cloning of a QTL in Dairy Cattle: Identification of a Missense Mutation in the Bovine DGAT1 Gene with Major Effect on Milk Yield and Composition". Genome Research. 12 (2): 222–31. doi:10.1101/gr.224202. PMID 11827942.
9. Martin P, Palhière I, Maroteau C, Bardou P, Canale-Tabet K, Sarry J, Woloszyn F, Bertrand-Michel J, Racke I, Besir H, Rupp R, Tosser-Klopp G (May 2017). "A genome scan for milk production traits in dairy goats reveals two new mutations in Dgat1 reducing milk fat content". Scientific Reports. 7 (1): 1872. doi:10.1038/s41598-017-02052-0. PMC 5431851. PMID 28500343.
10. http://www.dgat1.org

Further reading

• Ludwig EH, Mahley RW, Palaoglu E, Ozbayrakçi S, Balestra ME, Borecki IB, Innerarity TL, Farese RV (July 2002). "DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women". Clinical Genetics. 62 (1): 68–73. doi:10.1034/j.1399-0004.2002.620109.x. PMID 12123490.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.