AWAT1

protein-coding

acyl-CoA wax alcohol acyltransferase 1, the group of Diacylglycerol O-acyltransferase 2 family

Gene 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]

Previous symbols:

DGAT2L3

MANE transcript

NM_001013579.3

Inheritance

—

ClinVar variants

U:50B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chrX:70,234,655-70,240,659

External References & Databases

Ensembl (ENSG00000204195)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AWAT1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001013579.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	1 clinvar	1 clinvar	5
missense			45 clinvar	4 clinvar		49
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	50	5	1	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001013579.3	RefSeq	NP_001013597.1	7	MANE Select
ENST00000374521.4	Ensembl	ENSP00000363645.3	7	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vitamin A Deficiency
Retinol Metabolism
Metabolism of lipids
Arachidonic acid metabolism
Metabolism

Biological Process

wax biosynthetic process
arachidonic acid metabolic process

Molecular Function

long-chain-alcohol O-fatty-acyltransferase activity
arachidoyl-CoA:1-dodecanol O-acyltransferase activity
wax ester synthase activity

Cellular Component

endoplasmic reticulum membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374521
Coding exons: 7
Length: 5973
Individuals with no LoFs: 125699
Homozygous LoFs: 4
Heterozygous LoFs: 16
Defined: 125719
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.256	118	126	0.936	0.00000943	2154
Missense (PolyPhen)		46	42.081	1.0931		736
Synonymous	-0.222	52	50.0	1.04	0.00000369	632
Loss of Function	1.12	7	11.0	0.635	7.71e-7	173

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00015	0.00012	rare
Latino/Admixed American	0.00040	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00014	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000024	0.000018	rare
South Asian	0.00010	0.000065	rare
Other	0.00022	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20). {ECO:0000269|PubMed:15671038}.;

Recessive Scores

pRec: 0.0948

Intolerance Scores

LoFtool: 0.654
RVIS EVS: -0.21
RVIS percentile EVS: 38.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.167

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium