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    AWAT1 acyl-CoA wax alcohol acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 158833, updated on 2-Nov-2024

    Summary

    Official Symbol
    AWAT1provided by HGNC
    Official Full Name
    acyl-CoA wax alcohol acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:23252
    See related
    Ensembl:ENSG00000204195 MIM:300924; AllianceGenome:HGNC:23252
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DGA2; DGAT2L3
    Summary
    The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See AWAT1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70234655..70240659)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68667982..68673985)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69454505..69460509)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene diacylglycerol O-acyltransferase 2 like 6 Neighboring gene RNA, 7SL, cytoplasmic 581, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:69473037-69474236 Neighboring gene RNA, 5S ribosomal pseudogene 507 Neighboring gene pyrimidinergic receptor P2Y4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Pathways from PubChem

    General protein information

    Preferred Names
    acyl-CoA wax alcohol acyltransferase 1
    Names
    diacyl-glycerol acyltransferase 2
    diacylglycerol O-acyltransferase 2-like 3
    diacylglycerol O-acyltransferase 2-like protein 3
    diacylglycerol acyltransferase 2
    long-chain-alcohol O-fatty-acyltransferase 1
    NP_001013597.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013225.1 RefSeqGene

      Range
      5001..11005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001013579.3NP_001013597.1  acyl-CoA wax alcohol acyltransferase 1

      See identical proteins and their annotated locations for NP_001013597.1

      Status: REVIEWED

      Source sequence(s)
      AY947638, BC039181, W68831
      Consensus CDS
      CCDS35321.1
      UniProtKB/Swiss-Prot
      Q58HT5, Q5JT21, Q6IEE4
      Related
      ENSP00000363645.3, ENST00000374521.4
      Conserved Domains (1) summary
      cl17185
      Location:35327
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70234655..70240659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68667982..68673985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)