Abhd6 abhydrolase domain containing 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abhd6provided by MGI
Official Full Name: abhydrolase domain containing 6provided by MGI
Primary source: MGI:MGI:1913332
See related: Ensembl:ENSMUSG00000025277 AllianceGenome:MGI:1913332
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: 0610041D24Rik
Summary: Enables acylglycerol lipase activity and phospholipase activity. Involved in several processes, including monoacylglycerol catabolic process; negative regulation of cold-induced thermogenesis; and phospholipid metabolic process. Acts upstream of or within long-term synaptic depression; negative regulation of cell migration; and regulation of endocannabinoid signaling pathway. Located in late endosome membrane; lysosomal membrane; and mitochondrion. Is integral component of postsynaptic membrane. Part of AMPA glutamate receptor complex. Is active in GABA-ergic synapse and glutamatergic synapse. Orthologous to human ABHD6 (abhydrolase domain containing 6, acylglycerol lipase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 11.3), large intestine adult (RPKM 9.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A1; 14 4.69 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (14413000..14466885, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (8002888..8056773)

Chromosome 14 - NC_000080.7 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?

ABHD6 drives endocytosis of AMPA receptors to regulate synaptic plasticity and learning flexibility.
Title: ABHD6 drives endocytosis of AMPA receptors to regulate synaptic plasticity and learning flexibility.
ABHD6 suppression promotes anti-inflammatory polarization of adipose tissue macrophages via 2-monoacylglycerol/PPAR signaling in obese mice.
Title: ABHD6 suppression promotes anti-inflammatory polarization of adipose tissue macrophages via 2-monoacylglycerol/PPAR signaling in obese mice.
The serine hydrolase ABHD6 controls survival and thermally induced seizures in a mouse model of Dravet syndrome.
Title: The serine hydrolase ABHD6 controls survival and thermally induced seizures in a mouse model of Dravet syndrome.
Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status.
Title: Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status.
Adipose ABHD6 regulates tolerance to cold and thermogenic programs.
Title: Adipose ABHD6 regulates tolerance to cold and thermogenic programs.
These findings identify ABHD6 as a regulator of the counter-regulatory responses to major metabolic shifts.
Title: α/β-Hydrolase Domain 6 in the Ventromedial Hypothalamus Controls Energy Metabolism Flexibility.
alpha/beta-domain hydrolase-6 suppression averts diet-induced obesity and enhances adipose browning and brown adipose function via PPAR alpha/PPAR gamma activation.
Title: α/β-Hydrolase Domain 6 Deletion Induces Adipose Browning and Prevents Obesity and Type 2 Diabetes.
Whole-body and b-cell specific ABHD6-KO mice exhibit enhanced glucose-stimulated insulin secretion, and their islets show elevated monoacylglycerol production and insulin secretion in response to glucose.
Title: α/β-Hydrolase domain-6-accessible monoacylglycerol controls glucose-stimulated insulin secretion.
ABHD6 can hydrolyze several lipid substrates, positioning ABHD6 at the interface of glycerophospholipid metabolism and lipid signal transduction.
Title: The serine hydrolase ABHD6 Is a critical regulator of the metabolic syndrome.
Data suggest ABHD6 as a therapeutic target that could be relevant in treating inflammation-related conditions.
Title: Implication of the anti-inflammatory bioactive lipid prostaglandin D2-glycerol ester in the control of macrophage activation and inflammation by ABHD6.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135995 (e-PCR)
- UniSTS:209991

AV065425 (e-PCR)
- UniSTS:164545

RH124456 (e-PCR)
- UniSTS:161278

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol lipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables acylglycerol lipase activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables phospholipase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acylglycerol catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within long-term synaptic depression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysobisphosphatidic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in monoacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of endocannabinoid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of retrograde trans-synaptic signaling by endocanabinoid	EXP Inferred from Experiment more info	PubMed
involved_in regulation of retrograde trans-synaptic signaling by endocanabinoid	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: monoacylglycerol lipase ABHD6

Names: 2-arachidonoylglycerol hydrolase

NP_001317993.1

EC 3.1.1.23

NP_001317994.1

EC 3.1.1.23

NP_079617.2

EC 3.1.1.23

XP_006518136.1

EC 3.1.1.23

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_001331064.1 → NP_001317993.1 monoacylglycerol lipase ABHD6 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC139029, AK076105, AK168782, BE624233, BQ176347

Consensus CDS

CCDS26808.1

UniProtKB/Swiss-Prot

Q3TGD2, Q8R2Y0, Q9DCD4

Conserved Domains (1) summary

COG0596
Location:51 → 327

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
NM_001331065.1 → NP_001317994.1 monoacylglycerol lipase ABHD6 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' region and initiates translation from a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC139029, AK168782, BQ176347

Consensus CDS

CCDS88563.1

UniProtKB/TrEMBL

Q9D375

Related

ENSMUSP00000153068.2, ENSMUST00000225234.2
NM_025341.4 → NP_079617.2 monoacylglycerol lipase ABHD6 isoform 1

See identical proteins and their annotated locations for NP_079617.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AA261636, AC139029, AK168782, BQ176347, BY253400, CX239001

Consensus CDS

CCDS26808.1

UniProtKB/Swiss-Prot

Q3TGD2, Q8R2Y0, Q9DCD4

Related

ENSMUSP00000129169.2, ENSMUST00000166497.9

Conserved Domains (1) summary

COG0596
Location:51 → 327

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

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_000080.7 Reference GRCm39 C57BL/6J

Range

14413000..14466885 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518073.4 → XP_006518136.1 monoacylglycerol lipase ABHD6 isoform X1

See identical proteins and their annotated locations for XP_006518136.1

UniProtKB/Swiss-Prot

Q3TGD2, Q8R2Y0, Q9DCD4

Conserved Domains (1) summary

COG0596
Location:51 → 327

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]