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Q96PD7

- DGAT2_HUMAN

UniProt

Q96PD7 - DGAT2_HUMAN

Protein

Diacylglycerol O-acyltransferase 2

Gene

DGAT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (01 Mar 2002)
      Previous versions | rss
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    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

    GO - Molecular functioni

    1. 2-acylglycerol O-acyltransferase activity Source: Ensembl
    2. diacylglycerol O-acyltransferase activity Source: UniProtKB
    3. protein homodimerization activity Source: BHF-UCL
    4. retinol O-fatty-acyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. acylglycerol acyl-chain remodeling Source: Reactome
    2. cellular lipid metabolic process Source: Reactome
    3. cellular response to oleic acid Source: BHF-UCL
    4. cellular triglyceride homeostasis Source: BHF-UCL
    5. cholesterol homeostasis Source: BHF-UCL
    6. diacylglycerol metabolic process Source: BHF-UCL
    7. fat pad development Source: BHF-UCL
    8. fatty acid homeostasis Source: BHF-UCL
    9. glycerol metabolic process Source: UniProtKB-KW
    10. glycerophospholipid biosynthetic process Source: Reactome
    11. lipid storage Source: BHF-UCL
    12. long-chain fatty-acyl-CoA metabolic process Source: BHF-UCL
    13. low-density lipoprotein particle clearance Source: BHF-UCL
    14. phospholipid metabolic process Source: Reactome
    15. regulation of plasma lipoprotein particle levels Source: BHF-UCL
    16. small molecule metabolic process Source: Reactome
    17. triglyceride biosynthetic process Source: UniProtKB

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Glycerol metabolism, Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    BRENDAi2.3.1.20. 2681.
    ReactomeiREACT_1190. Triglyceride Biosynthesis.
    REACT_121122. Acyl chain remodeling of DAG and TAG.
    SABIO-RKQ96PD7.
    UniPathwayiUPA00282.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:16940. DGAT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication. Lipid droplet By similarity

    GO - Cellular componenti

    1. endoplasmic reticulum Source: BHF-UCL
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of endoplasmic reticulum membrane Source: BHF-UCL
    4. integral component of membrane Source: BHF-UCL
    5. lipid particle Source: UniProtKB-SubCell
    6. mitochondrion Source: Ensembl
    7. perinuclear region of cytoplasm Source: BHF-UCL

    Keywords - Cellular componenti

    Endoplasmic reticulum, Lipid droplet, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27304.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 388388Diacylglycerol O-acyltransferase 2PRO_0000249045Add
    BLAST

    Proteomic databases

    PaxDbiQ96PD7.
    PRIDEiQ96PD7.

    PTM databases

    PhosphoSiteiQ96PD7.

    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

    BgeeiQ96PD7.
    CleanExiHS_DGAT2.
    GenevestigatoriQ96PD7.

    Organism-specific databases

    HPAiHPA013351.

    Interactioni

    Subunit structurei

    Forms multimeric complexes consisting of several DGAT2 subunits.By similarity

    Protein-protein interaction databases

    BioGridi124172. 3 interactions.
    IntActiQ96PD7. 2 interactions.
    STRINGi9606.ENSP00000228027.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96PD7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6969CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini89 – 924LumenalSequence Analysis
    Topological domaini113 – 388276CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei70 – 8819HelicalSequence AnalysisAdd
    BLAST
    Transmembranei93 – 11220HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG258143.
    HOVERGENiHBG065791.
    InParanoidiQ96PD7.
    KOiK11160.
    OMAiLMYTFCT.
    OrthoDBiEOG7KH9KB.
    PhylomeDBiQ96PD7.
    TreeFamiTF314707.

    Family and domain databases

    InterProiIPR007130. DAGAT.
    [Graphical view]
    PANTHERiPTHR12317. PTHR12317. 1 hit.
    PfamiPF03982. DAGAT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GTGSSILSAL    50
    QDLFSVTWLN RSKVEKQLQV ISVLQWVLSF LVLGVACSAI LMYIFCTDCW 100
    LIAVLYFTWL VFDWNTPKKG GRRSQWVRNW AVWRYFRDYF PIQLVKTHNL 150
    LTTRNYIFGY HPHGIMGLGA FCNFSTEATE VSKKFPGIRP YLATLAGNFR 200
    MPVLREYLMS GGICPVSRDT IDYLLSKNGS GNAIIIVVGG AAESLSSMPG 250
    KNAVTLRNRK GFVKLALRHG ADLVPIYSFG ENEVYKQVIF EEGSWGRWVQ 300
    KKFQKYIGFA PCIFHGRGLF SSDTWGLVPY SKPITTVVGE PITIPKLEHP 350
    TQQDIDLYHT MYMEALVKLF DKHKTKFGLP ETEVLEVN 388
    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 BAD38635.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAD38961.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti295 – 2951W → C in AAV35727. 1 PublicationCurated
    Sequence conflicti304 – 3041Q → H in AAV35727. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti317 – 3171R → G.
    Corresponds to variant rs34421064 [ dbSNP | Ensembl ].
    VAR_033864
    Natural varianti361 – 3611M → I.
    Corresponds to variant rs34113941 [ dbSNP | Ensembl ].
    VAR_033865

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei41 – 8343Missing in isoform 2. 1 PublicationVSP_020356Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [Q96PD7-1]
    uc001oxb.3. human. [Q96PD7-2]

    Polymorphism databases

    DMDMi74732654.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS31642.1. [Q96PD7-1 ]
    CCDS58162.1. [Q96PD7-2 ]
    RefSeqi NP_001240820.1. NM_001253891.1. [Q96PD7-2 ]
    NP_115953.2. NM_032564.4. [Q96PD7-1 ]
    UniGenei Hs.129798.

    3D structure databases

    ProteinModelPortali Q96PD7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124172. 3 interactions.
    IntActi Q96PD7. 2 interactions.
    STRINGi 9606.ENSP00000228027.

    Chemistry

    BindingDBi Q96PD7.
    ChEMBLi CHEMBL5853.

    PTM databases

    PhosphoSitei Q96PD7.

    Polymorphism databases

    DMDMi 74732654.

    Proteomic databases

    PaxDbi Q96PD7.
    PRIDEi Q96PD7.

    Protocols and materials databases

    DNASUi 84649.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000228027 ; ENSP00000228027 ; ENSG00000062282 . [Q96PD7-1 ]
    ENST00000376262 ; ENSP00000365438 ; ENSG00000062282 . [Q96PD7-2 ]
    GeneIDi 84649.
    KEGGi hsa:84649.
    UCSCi uc001oxa.3. human. [Q96PD7-1 ]
    uc001oxb.3. human. [Q96PD7-2 ]

    Organism-specific databases

    CTDi 84649.
    GeneCardsi GC11P075479.
    HGNCi HGNC:16940. DGAT2.
    HPAi HPA013351.
    MIMi 606983. gene.
    neXtProti NX_Q96PD7.
    PharmGKBi PA27304.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG258143.
    HOVERGENi HBG065791.
    InParanoidi Q96PD7.
    KOi K11160.
    OMAi LMYTFCT.
    OrthoDBi EOG7KH9KB.
    PhylomeDBi Q96PD7.
    TreeFami TF314707.

    Enzyme and pathway databases

    UniPathwayi UPA00282 .
    BRENDAi 2.3.1.20. 2681.
    Reactomei REACT_1190. Triglyceride Biosynthesis.
    REACT_121122. Acyl chain remodeling of DAG and TAG.
    SABIO-RK Q96PD7.

    Miscellaneous databases

    ChiTaRSi DGAT2. human.
    GenomeRNAii 84649.
    NextBioi 74602.
    PROi Q96PD7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96PD7.
    CleanExi HS_DGAT2.
    Genevestigatori Q96PD7.

    Family and domain databases

    InterProi IPR007130. DAGAT.
    [Graphical view ]
    PANTHERi PTHR12317. PTHR12317. 1 hit.
    Pfami PF03982. DAGAT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lymph node and Uterus.
    5. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 66-388.
      Tissue: Hepatoblastoma.
    9. "Acyl coenzyme A dependent retinol esterification by acyl coenzyme A: diacylglycerol acyltransferase 1."
      Orland M.D., Anwar K., Cromley D., Chu C.H., Chen L., Billheimer J.T., Hussain M.M., Cheng D.
      Biochim. Biophys. Acta 1737:76-82(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY.

    Entry informationi

    Entry nameiDGAT2_HUMAN
    AccessioniPrimary (citable) accession number: Q96PD7
    Secondary accession number(s): A6ND76
    , Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q9BYE5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 102 of the entry and version 2 of the sequence. [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

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3