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Awat2 acyl-CoA wax alcohol acyltransferase 2 [ Mus musculus (house mouse) ]

Gene ID: 245532, updated on 17-Aug-2024

Summary

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Official Symbol
Awat2provided by MGI
Official Full Name
acyl-CoA wax alcohol acyltransferase 2provided by MGI
Primary source
MGI:MGI:3045345
See related
Ensembl:ENSMUSG00000031220 AllianceGenome:MGI:3045345
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
WS; ARAT; Dgat2l4; 9430062J17Rik
Summary
Enables retinol O-fatty-acyltransferase activity. Acts upstream of or within wax biosynthetic process. Located in endoplasmic reticulum membrane. Used to study dry eye syndrome. Orthologous to human AWAT2 (acyl-CoA wax alcohol acyltransferase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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Location:
X C3; X 43.71 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (99445827..99537885, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (100402221..100494278, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ectodysplasin-A Neighboring gene serologically defined colon cancer antigen 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47633 Neighboring gene microRNA 676 Neighboring gene OTU domain containing 6A Neighboring gene STARR-seq mESC enhancer starr_47634 Neighboring gene immunoglobulin (CD79A) binding protein 1 Neighboring gene diacylglycerol O-acyltransferase 2-like 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Acyl-CoA:wax alcohol acyltransferase 2 modulates the cone visual cycle in mouse retina. Widjaja-Adhi MAK, et al. FASEB J, 2022 Jul. PMID 35665537, Free PMC Article
  2. Two Predicted Transmembrane Domains Exclude Very Long Chain Fatty acyl-CoAs from the Active Site of Mouse Wax Synthase. Kawelke S, et al. PLoS One, 2015. PMID 26714272, Free PMC Article
  3. Deficiency in Acyl-CoA:Wax Alcohol Acyltransferase 2 causes evaporative dry eye disease by abolishing biosynthesis of wax esters. Widjaja-Adhi MAK, et al. FASEB J, 2020 Oct. PMID 32851726, Free PMC Article
  4. Diverse meibum lipids produced by Awat1 and Awat2 are important for stabilizing tear film and protecting the ocular surface. Sawai M, et al. iScience, 2021 May 21. PMID 34113821, Free PMC Article
  5. Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2. Arne JM, et al. J Lipid Res, 2017 Apr. PMID 28096191, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Acyl-CoA:wax alcohol acyltransferase 2 modulates the cone visual cycle in mouse retina.
    Title: Acyl-CoA:wax alcohol acyltransferase 2 modulates the cone visual cycle in mouse retina.
  2. Deficiency in Acyl-CoA:Wax Alcohol Acyltransferase 2 causes evaporative dry eye disease by abolishing biosynthesis of wax esters.
    Title: Deficiency in Acyl-CoA:Wax Alcohol Acyltransferase 2 causes evaporative dry eye disease by abolishing biosynthesis of wax esters.
  3. hese data provide the experimental basis for understanding regulation of AWAT2 substrate specificity.
    Title: Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.
  4. Transmembrane Domains Exclude Very Long Chain Fatty acyl-CoAs from the Active Site of Mouse Wax Synthase
    Title: Two Predicted Transmembrane Domains Exclude Very Long Chain Fatty acyl-CoAs from the Active Site of Mouse Wax Synthase.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables O-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables long-chain-alcohol O-fatty-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables long-chain-alcohol O-fatty-acyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables retinol O-fatty-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables retinol O-fatty-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables retinol O-fatty-acyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoacylglycerol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within wax biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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
long-chain-alcohol O-fatty-acyltransferase 2
wax synthase 2
NP_001277324.1
NP_808414.2
XP_011245890.1
XP_011245892.1
XP_011245893.1
XP_011245894.1
XP_017173978.1
XP_036017848.1

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.

mRNA and Protein(s)

  1. NM_001290395.1 → NP_001277324.1  acyl-CoA wax alcohol acyltransferase 2 isoform 2

    See identical proteins and their annotated locations for NP_001277324.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK034920, AY611031
    Consensus CDS
    CCDS72412.1
    UniProtKB/Swiss-Prot
    Q6E1M8
    Related
    ENSMUSP00000128516.2, ENSMUST00000147103.2
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  2. NM_177746.4 → NP_808414.2  acyl-CoA wax alcohol acyltransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_808414.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AY611031, AY611032
    Consensus CDS
    CCDS30300.1
    UniProtKB/Swiss-Prot
    Q6E1M8, Q8BM49
    UniProtKB/TrEMBL
    A2ADU0
    Related
    ENSMUSP00000033567.9, ENSMUST00000033567.15
    Conserved Domains (1) summary
    cl17185
    Location:38 → 332
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    99445827..99537885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017318489.3 → XP_017173978.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    Q6E1M8
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  2. XM_011247592.4 → XP_011245894.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011245894.1

    UniProtKB/Swiss-Prot
    Q6E1M8
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  3. XM_011247591.3 → XP_011245893.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011245893.1

    UniProtKB/Swiss-Prot
    Q6E1M8
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  4. XM_011247588.3 → XP_011245890.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011245890.1

    UniProtKB/Swiss-Prot
    Q6E1M8
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  5. XM_036161955.1 → XP_036017848.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  6. XM_011247590.4 → XP_011245892.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011245892.1

    UniProtKB/Swiss-Prot
    Q6E1M8
    Conserved Domains (1) summary
    cl17185
    Location:2 → 281
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6E1M8.1 GenPept UniProtKB/Swiss-Prot:Q6E1M8

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