DGAT1
entrez
8694
canonical
uniprot
O75907
canonical
ensembl
ENSG00000185000
resolver
ensembl
ENSG00000285482
resolver
ensp
ENSP00000482264
resolver
ensp
ENSP00000495489
resolver
enst
ENST00000528718
resolver
enst
ENST00000644790
resolver
genesymbol
DGAT1
resolver
genesymbol_syn
AGRP1
resolver
genesymbol_syn
DGAT
resolver
hgnc
HGNC:2843
resolver
uniprot
B2RWQ2
resolver
uniprot
D3DWL6
resolver
uniprot
Q96BB8
resolver
uniprot_entry
DGAT1_HUMAN
resolver
uniprot_sec
B2RWQ2
resolver
uniprot_sec
D3DWL6
resolver
uniprot_sec
Q96BB8
resolver
activity_regulation
ACTIVITY REGULATION: XP620 is a selective DGAT1 inhibitor. {ECO:0000269|PubMed:16214399}.
uniprot
proteins
amino_acid_sequence
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 7, protein-losing enteropathy type (DIAR7) [MIM:615863]: A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.20
uniprot
proteins
ec_number
2.3.1.76
uniprot
proteins
function
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 expressed in epithelial cells of the small intestine and its activity is essential for the absorption of dietary fats (PubMed:18768481). In liver, plays a role in esterifying exogenous fatty acids to glycerol, and is required to synthesize fat for storage (PubMed:16214399). Also present in female mammary glands, where it produces fat in the milk (By similarity). May be involved in VLDL (very low density lipoprotein) assembly (PubMed:18768481). In contrast to DGAT2 it is not essential for survival (By similarity). Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders (PubMed:16214399). Exhibits additional acyltransferase activities, includin acyl CoA:monoacylglycerol acyltransferase (MGAT), wax monoester and wax diester synthases (By similarity). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705). {ECO:0000250|UniProtKB:Q8MK44, ECO:0000250|UniProtKB:Q9Z2A7, ECO:0000269|PubMed:16214399, ECO:0000269|PubMed:18768481, ECO:0000269|PubMed:28420705, ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0000269|PubMed:9756920}.
uniprot
proteins
mass_dalton
55278
uniprot
proteins
mutagenesis
MUTAGEN 346; /note="L->W: Strongly reduced diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 371; /note="T->A: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 375; /note="Q->A: Slightly decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 377; /note="W->F: Abolished diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 378; /note="N->A,L: Abolished diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611"; MUTAGEN 381; /note="V->A: Does not affect diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 381; /note="V->W: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 382; /note="H->A: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611"; MUTAGEN 385; /note="C->W: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 386; /note="I->A: Slightly decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 390; /note="Y->A: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611"; MUTAGEN 391; /note="K->A: Slightly decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 400; /note="K->L: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 404; /note="R->A: Does not affect diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 404; /note="R->L: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 407; /note="V->F: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 411; /note="S->A,W: Abolished diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611"; MUTAGEN 411; /note="S->I: Decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 415; /note="H->A: Abolished diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611"; MUTAGEN 416; /note="E->A: Abolished diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433610"; MUTAGEN 434; /note="M->A,I: Reduced diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 437; /note="Q->A: Reduced diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 465; /note="Q->A: Reduced diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611"; MUTAGEN 469; /note="V->A: Slightly decreased diacylglycerol O-acyltransferase activity."; /evidence="ECO:0000269|PubMed:32433611
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; glycerolipid metabolism.
uniprot
proteins
protein_family
Membrane-bound acyltransferase family
uniprot
proteins
protein_family
Sterol o-acyltransferase subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16214399
uniprot
proteins
pubmed
18768481
uniprot
proteins
pubmed
23114594
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28420705
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
32433610
uniprot
proteins
pubmed
32433611
uniprot
proteins
pubmed
9756920
uniprot
proteins
sequence_length
488
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9Z2A7}; Multi-pass membrane protein {ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611}.
uniprot
proteins
transmembrane_region
TRANSMEM 84..118; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 131..156; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 162..184; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 192..223; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 274..308; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 316..353; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 400..420; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 429..447; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1"; TRANSMEM 450..481; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:32433610, ECO:0000269|PubMed:32433611, ECO:0007744|PDB:6VP0, ECO:0007744|PDB:6VYI, ECO:0007744|PDB:6VZ1
uniprot
proteins