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Q6E213

- AWAT2_HUMAN

UniProt

Q6E213 - AWAT2_HUMAN

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Protein

Acyl-CoA wax alcohol acyltransferase 2

Gene

AWAT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo.3 Publications

Catalytic activityi

Acyl-CoA + a long-chain alcohol = CoA + a long-chain ester.1 Publication
Acyl-CoA + retinol = CoA + retinyl ester.1 Publication

Kineticsi

    Vmax=1232 pmol/min/mg enzyme with [14C]cetyl-CoA as substrate1 Publication

    GO - Molecular functioni

    1. long-chain-alcohol O-fatty-acyltransferase activity Source: UniProtKB-EC
    2. retinol O-fatty-acyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. wax biosynthetic process Source: Ensembl
    Complete GO annotation...

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    BRENDAi2.3.1.75. 2681.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acyl-CoA wax alcohol acyltransferase 2 (EC:2.3.1.75)
    Alternative name(s):
    Acyl-CoA retinol O-fatty-acyltransferase (EC:2.3.1.76)
    Short name:
    ARAT
    Short name:
    Retinol O-fatty-acyltransferase
    Diacylglycerol O-acyltransferase 2-like protein 4
    Diacylglycerol O-acyltransferase candidate 4
    Short name:
    hDC4
    Long-chain-alcohol O-fatty-acyltransferase 2
    Multifunctional O-acyltransferase
    Wax synthase
    Short name:
    hWS
    Gene namesi
    Name:AWAT2
    Synonyms:DC4, DGAT2L4, MFAT, WS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:23251. AWAT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164716410.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 333333Acyl-CoA wax alcohol acyltransferase 2PRO_0000249052Add
    BLAST

    Proteomic databases

    PRIDEiQ6E213.

    PTM databases

    PhosphoSiteiQ6E213.

    Expressioni

    Tissue specificityi

    Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas.3 Publications

    Gene expression databases

    BgeeiQ6E213.
    CleanExiHS_DGAT2L4.
    GenevestigatoriQ6E213.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6E213.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei130 – 15021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    GeneTreeiENSGT00750000117391.
    HOGENOMiHOG000179738.
    HOVERGENiHBG065791.
    InParanoidiQ6E213.
    KOiK11156.
    OMAiCAFYGRG.
    OrthoDBiEOG7KH9KB.
    PhylomeDBiQ6E213.
    TreeFamiTF314707.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q6E213-1 [UniParc]FASTAAdd to Basket

    « Hide

            10         20         30         40         50
    MLLPSKKDLK TALDVFAVFQ WSFSALLITT TVIAVNLYLV VFTPYWPVTV
    60 70 80 90 100
    LILTWLAFDW KTPQRGGRRF TCVRHWRLWK HYSDYFPLKL LKTHDICPSR
    110 120 130 140 150
    NYILVCHPHG LFAHGWFGHF ATEASGFSKI FPGITPYILT LGAFFWMPFL
    160 170 180 190 200
    REYVMSTGAC SVSRSSIDFL LTHKGTGNMV IVVIGGLAEC RYSLPGSSTL
    210 220 230 240 250
    VLKNRSGFVR MALQHGVPLI PAYAFGETDL YDQHIFTPGG FVNRFQKWFQ
    260 270 280 290 300
    SMVHIYPCAF YGRGFTKNSW GLLPYSRPVT TIVGEPLPMP KIENPSQEIV
    310 320 330
    AKYHTLYIDA LRKLFDQHKT KFGISETQEL EII
    Length:333
    Mass (Da):38,094
    Last modified:August 16, 2004 - v1
    Checksum:iB2F1BAAF331BAE4C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY605053 mRNA. Translation: AAT68764.1.
    BC063698 mRNA. Translation: AAH63698.1.
    BN000156 mRNA. Translation: CAD89267.1.
    CCDSiCCDS35320.1.
    RefSeqiNP_001002254.1. NM_001002254.1.
    UniGeneiHs.661507.

    Genome annotation databases

    EnsembliENST00000276101; ENSP00000421172; ENSG00000147160.
    GeneIDi158835.
    KEGGihsa:158835.
    UCSCiuc004dxt.1. human.

    Polymorphism databases

    DMDMi74748433.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY605053 mRNA. Translation: AAT68764.1 .
    BC063698 mRNA. Translation: AAH63698.1 .
    BN000156 mRNA. Translation: CAD89267.1 .
    CCDSi CCDS35320.1.
    RefSeqi NP_001002254.1. NM_001002254.1.
    UniGenei Hs.661507.

    3D structure databases

    ProteinModelPortali Q6E213.
    ModBasei Search...
    MobiDBi Search...

    Chemistry

    ChEMBLi CHEMBL2375204.

    PTM databases

    PhosphoSitei Q6E213.

    Polymorphism databases

    DMDMi 74748433.

    Proteomic databases

    PRIDEi Q6E213.

    Protocols and materials databases

    DNASUi 158835.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000276101 ; ENSP00000421172 ; ENSG00000147160 .
    GeneIDi 158835.
    KEGGi hsa:158835.
    UCSCi uc004dxt.1. human.

    Organism-specific databases

    CTDi 158835.
    GeneCardsi GC0XM069178.
    HGNCi HGNC:23251. AWAT2.
    MIMi 300925. gene.
    neXtProti NX_Q6E213.
    PharmGKBi PA164716410.
    GenAtlasi Search...

    Phylogenomic databases

    GeneTreei ENSGT00750000117391.
    HOGENOMi HOG000179738.
    HOVERGENi HBG065791.
    InParanoidi Q6E213.
    KOi K11156.
    OMAi CAFYGRG.
    OrthoDBi EOG7KH9KB.
    PhylomeDBi Q6E213.
    TreeFami TF314707.

    Enzyme and pathway databases

    BRENDAi 2.3.1.75. 2681.

    Miscellaneous databases

    GenomeRNAii 158835.
    NextBioi 87830.
    PROi Q6E213.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6E213.
    CleanExi HS_DGAT2L4.
    Genevestigatori Q6E213.

    Family and domain databases

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

    Publicationsi

    « Hide 'large scale' publications
    1. "Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family."
      Cheng J.B., Russell D.W.
      J. Biol. Chem. 279:37798-37807(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    2. "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] OF 176-333.
      Tissue: Skin.
    3. "Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals."
      Winter A., van Eckeveld M., Bininda-Emonds O.R.P., Habermann F.A., Fries R.
      Cytogenet. Genome Res. 102:42-47(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    4. "Identification of two novel human Acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily."
      Turkish A.R., Henneberry A.L., Cromley D., Padamsee M., Oelkers P., Bazzi H., Christiano A.M., Billheimer J.T., Sturley S.L.
      J. Biol. Chem. 280:14755-14764(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
    5. "A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters."
      Yen C.-L.E., Brown C.H. IV, Monetti M., Farese R.V. Jr.
      J. Lipid Res. 46:2388-2397(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, FUNCTION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiAWAT2_HUMAN
    AccessioniPrimary (citable) accession number: Q6E213
    Secondary accession number(s): Q6IEE3, Q6P437
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: August 16, 2004
    Last modified: October 29, 2014
    This is version 85 of the entry and version 1 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 X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3