DGAT1

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

DGAT1
Identifiers
AliasesDGAT1, ARAT, ARGP1, DGAT, DIAR7, diacylglycerol O-acyltransferase 1
External IDsOMIM: 604900 MGI: 1333825 HomoloGene: 7688 GeneCards: DGAT1
EC number2.3.1.76
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q24.3Start144,314,584 bp[1]
End144,326,910 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 15: 76.5 – 76.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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. 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. S2CID 8893005.

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