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

Summary

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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Endonuclease-mediated (5) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:495708

NoName (e-PCR)
- UniSTS:493249

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

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

NP_808414.2

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_011245890.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_011245892.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_011245893.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_011245894.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_017173978.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

XP_036017848.1

EC 2.3.1.20

EC 2.3.1.75

EC 2.3.1.76

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)

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
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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

99445827..99537885 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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