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Protein

Diacylglycerol O-acyltransferase 2

Gene

DGAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT).By similarity

Catalytic activityi

Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol.1 Publication
Acyl-CoA + retinol = CoA + retinyl ester.1 Publication

Enzyme regulationi

Inhibited by niacin.By similarity

Pathwayi: triacylglycerol biosynthesis

This protein is involved in the pathway triacylglycerol biosynthesis, which is part of Glycerolipid metabolism.
View all proteins of this organism that are known to be involved in the pathway triacylglycerol biosynthesis and in Glycerolipid metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processGlycerol metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BRENDAi2.3.1.20 2681
ReactomeiR-HSA-1482883 Acyl chain remodeling of DAG and TAG
R-HSA-75109 Triglyceride biosynthesis
SABIO-RKiQ96PD7
UniPathwayiUPA00282

Chemistry databases

SwissLipidsiSLP:000000304

Names & Taxonomyi

Protein namesi
Recommended name:
Diacylglycerol O-acyltransferase 2 (EC:2.3.1.20)
Alternative name(s):
Acyl-CoA retinol O-fatty-acyltransferase (EC:2.3.1.76)
Short name:
ARAT
Short name:
Retinol O-fatty-acyltransferase
Diglyceride acyltransferase 2
Gene namesi
Name:DGAT2
ORF Names:HMFN1045, UNQ738/PRO1433
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000062282.14
HGNCiHGNC:16940 DGAT2
MIMi606983 gene
neXtProtiNX_Q96PD7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 69CytoplasmicSequence analysisAdd BLAST69
Transmembranei70 – 88HelicalSequence analysisAdd BLAST19
Topological domaini89 – 92LumenalSequence analysis4
Transmembranei93 – 112HelicalSequence analysisAdd BLAST20
Topological domaini113 – 388CytoplasmicSequence analysisAdd BLAST276

Keywords - Cellular componenti

Endoplasmic reticulum, Lipid droplet, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi84649
OpenTargetsiENSG00000062282
PharmGKBiPA27304

Chemistry databases

ChEMBLiCHEMBL5853

Polymorphism and mutation databases

BioMutaiDGAT2
DMDMi74732654

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002490451 – 388Diacylglycerol O-acyltransferase 2Add BLAST388

Proteomic databases

PaxDbiQ96PD7
PeptideAtlasiQ96PD7
PRIDEiQ96PD7

PTM databases

iPTMnetiQ96PD7
PhosphoSitePlusiQ96PD7

Expressioni

Tissue specificityi

Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin.2 Publications

Gene expression databases

BgeeiENSG00000062282
CleanExiHS_DGAT2
ExpressionAtlasiQ96PD7 baseline and differential
GenevisibleiQ96PD7 HS

Interactioni

Subunit structurei

Forms multimeric complexes consisting of several DGAT2 subunits.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124172, 2 interactors
CORUMiQ96PD7
IntActiQ96PD7, 2 interactors
MINTiQ96PD7
STRINGi9606.ENSP00000228027

Chemistry databases

BindingDBiQ96PD7

Structurei

3D structure databases

ProteinModelPortaliQ96PD7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0831 Eukaryota
ENOG410XTG3 LUCA
GeneTreeiENSGT00750000117391
HOVERGENiHBG065791
InParanoidiQ96PD7
KOiK11160
OMAiLMYTFCT
OrthoDBiEOG091G0BGQ
PhylomeDBiQ96PD7
TreeFamiTF314707

Family and domain databases

InterProiView protein in InterPro
IPR007130 DAGAT
PfamiView protein in Pfam
PF03982 DAGAT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96PD7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GTGSSILSAL
60 70 80 90 100
QDLFSVTWLN RSKVEKQLQV ISVLQWVLSF LVLGVACSAI LMYIFCTDCW
110 120 130 140 150
LIAVLYFTWL VFDWNTPKKG GRRSQWVRNW AVWRYFRDYF PIQLVKTHNL
160 170 180 190 200
LTTRNYIFGY HPHGIMGLGA FCNFSTEATE VSKKFPGIRP YLATLAGNFR
210 220 230 240 250
MPVLREYLMS GGICPVSRDT IDYLLSKNGS GNAIIIVVGG AAESLSSMPG
260 270 280 290 300
KNAVTLRNRK GFVKLALRHG ADLVPIYSFG ENEVYKQVIF EEGSWGRWVQ
310 320 330 340 350
KKFQKYIGFA PCIFHGRGLF SSDTWGLVPY SKPITTVVGE PITIPKLEHP
360 370 380
TQQDIDLYHT MYMEALVKLF DKHKTKFGLP ETEVLEVN
Length:388
Mass (Da):43,831
Last modified:March 1, 2002 - v2
Checksum:i39EE7783A3F06593
GO
Isoform 2 (identifier: Q96PD7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-83: Missing.

Show »
Length:345
Mass (Da):39,044
Checksum:iCDDCB976A9D4E539
GO

Sequence cautioni

The sequence BAD38635 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAD38961 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti295W → C in AAV35727 (Ref. 7) Curated1
Sequence conflicti304Q → H in AAV35727 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077236223Y → H Found in patients with Charcot-Marie-Tooth disease; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869025595Ensembl.1
Natural variantiVAR_033864317R → G. Corresponds to variant dbSNP:rs34421064Ensembl.1
Natural variantiVAR_033865361M → I. Corresponds to variant dbSNP:rs34113941Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02035641 – 83Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF384161 mRNA Translation: AAK84176.2
AB048286 mRNA Translation: BAB40641.2
AY358532 mRNA Translation: AAQ88896.1
AL834287 mRNA Translation: CAD38961.1 Different initiation.
CR749377 mRNA Translation: CAH18230.1
AP001922 Genomic DNA No translation available.
BC015234 mRNA Translation: AAH15234.1
AY780647 mRNA Translation: AAV35727.1
AB073384 mRNA Translation: BAD38635.1 Different initiation.
CCDSiCCDS31642.1 [Q96PD7-1]
CCDS58162.1 [Q96PD7-2]
RefSeqiNP_001240820.1, NM_001253891.1 [Q96PD7-2]
NP_115953.2, NM_032564.4 [Q96PD7-1]
UniGeneiHs.129798

Genome annotation databases

EnsembliENST00000228027; ENSP00000228027; ENSG00000062282 [Q96PD7-1]
ENST00000376262; ENSP00000365438; ENSG00000062282 [Q96PD7-2]
GeneIDi84649
KEGGihsa:84649
UCSCiuc001oxa.4 human [Q96PD7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDGAT2_HUMAN
AccessioniPrimary (citable) accession number: Q96PD7
Secondary accession number(s): A6ND76
, Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q9BYE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: March 1, 2002
Last modified: March 28, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health