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

Gene ID: 158833, updated on 13-May-2022

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
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70234655..70240659)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68667982..68673985)
105.20220307 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 RNA, 5S ribosomal pseudogene 507 Neighboring gene pyrimidinergic receptor P2Y4

Genomic regions, transcripts, and products

Expression

  • Project title: 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 gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables arachidoyl-CoA:1-dodecanol O-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables long-chain-alcohol O-fatty-acyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
enables long-chain-alcohol O-fatty-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in arachidonic acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in wax biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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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
    Related
    ENSP00000363645.3, ENST00000374521.4
    Conserved Domains (1) summary
    cl17185
    Location:35327
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)