DGAT1

DGAT1
Identifiers
Aliases	DGAT1 , ARAT, ARGP1, DGAT, DIAR7, diacylglycerol O-acyltransferase 1
External IDs	OMIM: 604900; MGI: 1333825; HomoloGene: 7688; GeneCards: DGAT1; OMA:DGAT1 - orthologs
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 76,386,215 bp [2] End 76,396,153 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum mucosa of transverse colon right adrenal cortex left adrenal cortex left testis right testis apex of heart right lobe of liver subcutaneous adipose tissue blood Top expressed in granulocyte duodenum crypt of lieberkuhn of small intestine jejunum brown adipose tissue ileum intestinal villus epithelium of small intestine tunica adventitia of aorta spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity O-acyltransferase activity protein binding 2-acylglycerol O-acyltransferase activity retinol O-fatty-acyltransferase activity acyltransferase activity diacylglycerol O-acyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle endoplasmic reticulum plasma 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: 76.39 – 76.4 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   10043699.
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. Bibcode:2017NatSR...7.1872M. doi:10.1038/s41598-017-02052-0. PMC   5431851 . PMID   28500343.
10. "Home". 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. S2CID   8893005.

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