Skip Header

 
Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q96PD7 (DGAT2_HUMAN)

Last modified November 3, 2009. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Diacylglycerol O-acyltransferase 2
    EC=2.3.1.20
Alternative name(s):
    Diglyceride acyltransferase 2
Gene names
Name: DGAT2
ORF Names: HMFN1045, UNQ738/PRO1433
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length388 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

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 By similarity.

Catalytic activity

Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol.

Enzyme regulation

Inhibited by niacin By similarity.

Pathway

Glycerolipid metabolism; triacylglycerol biosynthesis.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Ref.2

Tissue specificity

Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammaray gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin. Ref.2 Ref.1

Sequence similarities

Belongs to the diacylglycerol acyltransferase family.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96PD7-1)

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.
Isoform 2 (identifier: Q96PD7-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 388388Diacylglycerol O-acyltransferase 2
PRO_0000249045

Regions

Transmembrane76 – 9621 Potential
Transmembrane98 – 11720 Potential

Amino acid modifications

Glycosylation601N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence41 – 8343Missing in isoform 2.
VSP_020356
Natural variant3171R → G: dbSNP rs34421064.
VAR_033864
Natural variant3611M → I: dbSNP rs34113941.
VAR_033865

Experimental info

Sequence conflict2951W → C in AAV35727. Ref.7
Sequence conflict3041Q → H in AAV35727. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 2.
Checksum: 39EE7783A3F06593

FASTA38843,831
        10         20         30         40         50         60 
MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GTGSSILSAL QDLFSVTWLN 

        70         80         90        100        110        120 
RSKVEKQLQV ISVLQWVLSF LVLGVACSAI LMYIFCTDCW LIAVLYFTWL VFDWNTPKKG 

       130        140        150        160        170        180 
GRRSQWVRNW AVWRYFRDYF PIQLVKTHNL LTTRNYIFGY HPHGIMGLGA FCNFSTEATE 

       190        200        210        220        230        240 
VSKKFPGIRP YLATLAGNFR MPVLREYLMS GGICPVSRDT IDYLLSKNGS GNAIIIVVGG 

       250        260        270        280        290        300 
AAESLSSMPG KNAVTLRNRK GFVKLALRHG ADLVPIYSFG ENEVYKQVIF EEGSWGRWVQ 

       310        320        330        340        350        360 
KKFQKYIGFA PCIFHGRGLF SSDTWGLVPY SKPITTVVGE PITIPKLEHP TQQDIDLYHT 

       370        380 
MYMEALVKLF DKHKTKFGLP ETEVLEVN 

« Hide

Isoform 2.

Checksum: CDDCB976A9D4E539
Show »

FASTA34539,044

References

« Hide 'large scale' references
[1]"Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members."
Cases S., Stone S.J., Zhou P., Yen C.-L.E., Tow B., Lardizabal K.D., Voelker T., Farese R.V. Jr.
J. Biol. Chem. 276:38870-38876(2001) [PubMed: 11481335] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Testis.
[2]"A novel diacylglycerol acyltransferase (DGAT2) is decreased in human psoriatic skin and increased in diabetic mice."
Wakimoto K., Chiba H., Michibata H., Seishima M., Kawasaki S., Okubo K., Mitsui H., Torii H., Imai Y.
Biochem. Biophys. Res. Commun. 310:296-302(2003) [PubMed: 14521909] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lymph node and Uterus.
[5]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed: 16554811] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pancreas.
[7]"Evaluation of gene structure of human DGAT2 gene."
Reichwald K., Petz U., Platzer M.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-341 (ISOFORM 2).
Tissue: Adipocyte.
[8]"Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
Oncogene 23:5901-5911(2004) [PubMed: 15221005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 66-388.
Tissue: Hepatoblastoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
IPIIPI00176376.
IPI00478401.
RefSeqNP_115953.2.
UniGeneHs.334305

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ96PD7.

Proteomic databases

PRIDEQ96PD7.

Genome annotation databases

EnsemblENST00000228027; ENSP00000228027; ENSG00000062282; Homo sapiens. [Genome view]
ENST00000376262; ENSP00000365438; ENSG00000062282; Homo sapiens. [Genome view]
GeneID84649.
KEGGhsa:84649.
UCSCuc001oxa.2. human.
uc001oxb.2. human.

Organism-specific databases

CTD84649.
GeneCardsGC11P075157.
H-InvDBHIX0009955.
HIX0056237.
HGNCHGNC:16940. DGAT2.
HPAHPA013351.
MIM606983. gene.
PharmGKBPA27304.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ96PD7.
OMAHGRGFFS.

Enzyme and pathway databases

BRENDA2.3.1.20. 247.

Gene expression databases

ArrayExpressQ96PD7.
BgeeQ96PD7.
CleanExHS_DGAT2.
GenevestigatorQ96PD7.
GermOnlineENSG00000062282. Homo sapiens.

Family and domain databases

InterProIPR007130. DAGAT.
[Graphical view]
PANTHERPTHR12317. DAGAT. 1 hit.
PfamPF03982. DAGAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio74602.
SOURCESearch...

Entry information

Entry nameDGAT2_HUMAN
AccessionPrimary (citable) accession number: Q96PD7
Secondary accession number(s): A6ND76 expand/collapse secondary AC list , Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q9BYE5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: March 1, 2002
Last modified: November 3, 2009
This is version 58 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents