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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AWAT1
acyl-CoA wax alcohol acyltransferase 1
Chromosome X Β· Xq13.1
NCBI Gene: 158833Ensembl: ENSG00000204195.4HGNC: HGNC:23252UniProt: Q58HT5
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
long-chain-alcohol O-fatty-acyltransferase activityendoplasmic reticulum membranelipid metabolic processwax biosynthetic processRomano-Ward syndromeBrugada syndromefamilial atrial fibrillationFamilial progressive cardiac conduction defect
✦AI Summary

AWAT1 is an acyl-CoA wax alcohol acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to produce wax monoesters 1. The enzyme exhibits strong substrate specificity, preferring decyl alcohol (C10) with reduced activity toward longer-chain alcohols (C16, C18), and showing a strong preference for saturated acyl-CoAs 1. AWAT1 is primarily expressed in skin tissues, with differentiation-specific expression in sebaceous glands 1, where it plays a significant role in sebum composition. The gene is located on the X chromosome X AWAT2 and DGAT2L6 2. Clinically, AWAT1 expression is substantially attenuated in atopic dermatitis (AD) skin from African populations, contributing to broader dysregulation of lipid metabolism while preserving normal epidermal barrier differentiation genes 3. AWAT1 expression is also dramatically repressed in response to aryl hydrocarbon receptor agonists like TCDD, contributing to dioxin-induced sebaceous gland atrophy 4. These findings suggest AWAT1 dysfunction may contribute to compromised skin barrier function in inflammatory skin diseases and environmental toxin exposure.

Sources cited
1
AWAT1 catalyzes ester formation between fatty alcohols and acyl-CoAs to produce wax esters; prefers C10 alcohols and saturated acyl-CoAs; expressed in skin and sebaceous glands
PMID: 15671038
2
AWAT1 is located on the X chromosome alongside AWAT2 and DGAT2L6; member of the AGAT superfamily with evolutionary origins prior to marsupial-eutherian divergence
PMID: 20374941
3
AWAT1 expression is robustly attenuated in atopic dermatitis skin from African populations, contributing to lipid metabolism dysregulation
PMID: 33975024
4
AWAT1 expression is dramatically repressed by aryl hydrocarbon receptor agonists (TCDD, beta-naphthoflavone), contributing to dioxin-induced sebaceous gland atrophy
PMID: 28973660
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Romano-Ward syndromeOpen Targets
0.09Suggestive
Brugada syndromeOpen Targets
0.09Suggestive
familial atrial fibrillationOpen Targets
0.08Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
Brugada syndrome 9Open Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
long QT syndrome 11Open Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
Brugada syndrome 8Open Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Brugada syndrome 5Open Targets
0.06Suggestive
long QT syndrome 10Open Targets
0.05Suggestive
Brugada syndrome 3Open Targets
0.05Suggestive
familial sick sinus syndromeOpen Targets
0.05Suggestive
sinoatrial node dysfunction and deafnessOpen Targets
0.05Suggestive
atrial fibrillation, familial, 9Open Targets
0.05Suggestive
short QT syndrome type 3Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ELOVL2Protein interaction87%ELOVL1Protein interaction86%ELOVL3Protein interaction86%SLC27A1Protein interaction84%DGAT1Protein interaction78%FABP4Protein interaction74%
Tissue Expression6 tissues
Ovary
100%
Lung
100%
Brain
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
AWAT1ELOVL2ELOVL1ELOVL3SLC27A1DGAT1FABP4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q58HT5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.20 [0.88–1.67]
RankingsWhere AWAT1 stands among ~20K protein-coding genes
  • #18,289of 20,598
    Most Researched5
  • #15,981of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedAWAT1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Immune and barrier characterization of atopic dermatitis skin phenotype in Tanzanian patients.
PMID: 33975024
Ann Allergy Asthma Immunol Β· 2021
1.00
2
Comparative genomics and proteomics of vertebrate diacylglycerol acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT) and monoacylglycerol acyltransferase (MGAT).
PMID: 20374941
Comp Biochem Physiol Part D Genomics Proteomics Β· 2010
0.75
3
From the Cover: High Susceptibility of Lrig1 Sebaceous Stem Cells to TCDD in Mice.
PMID: 28973660
Toxicol Sci Β· 2017
0.50
4
Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.
PMID: 15671038
J Biol Chem Β· 2005
0.25