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AWAT2 acyl-CoA wax alcohol acyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 158835, updated on 8-Jul-2021

Summary

Official Symbol
AWAT2provided by HGNC
Official Full Name
acyl-CoA wax alcohol acyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:23251
See related
Ensembl:ENSG00000147160 MIM:300925
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
WS; DC4; ARAT; MFAT; DGAT2L4
Summary
This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See AWAT2 in Genome Data Viewer
Location:
Xq13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (70040542..70049970, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69260392..69269788, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ectodysplasin A Neighboring gene CCR4-NOT transcription complex subunit 7 pseudogene 1 Neighboring gene microRNA 676 Neighboring gene OTU deubiquitinase 6A Neighboring gene MT-CYB pseudogene 31

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in acylglycerol acyl-chain remodeling TAS
Traceable Author Statement
more info
 
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in monoacylglycerol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retinoid metabolic process TAS
Traceable Author Statement
more info
 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
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 2
Names
11-cis-RE-synthase
11-cis-specific retinyl-ester synthase
acyl-CoA retinol O-fatty-acyltransferase
diacylglycerol O-acyltransferase 2-like protein 4
diacylglycerol O-acyltransferase candidate 4
long-chain-alcohol O-fatty-acyltransferase 2
multifunctional O-acyltransferase
retinol O-fatty-acyltransferase
NP_001002254.1
XP_011529178.1

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_021246.1 RefSeqGene

    Range
    5001..14397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002254.1NP_001002254.1  acyl-CoA wax alcohol acyltransferase 2

    See identical proteins and their annotated locations for NP_001002254.1

    Status: REVIEWED

    Source sequence(s)
    AY605053, BC063698
    Consensus CDS
    CCDS35320.1
    UniProtKB/Swiss-Prot
    Q6E213
    Related
    ENSP00000421172.1, ENST00000276101.7
    Conserved Domains (1) summary
    cl17185
    Location:38332
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    70040542..70049970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530876.2XP_011529178.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011529178.1

    UniProtKB/Swiss-Prot
    Q6E213
    Conserved Domains (1) summary
    cl17185
    Location:38332
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
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