Abhd12 abhydrolase domain containing 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abhd12provided by MGI
Official Full Name: abhydrolase domain containing 12provided by MGI
Primary source: MGI:MGI:1923442
See related: Ensembl:ENSMUSG00000032046 AllianceGenome:MGI:1923442
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: 1500011G07Rik; 6330583M11Rik
Summary: Enables acylglycerol lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Involved in cellular lipid catabolic process; protein depalmitoylation; and regulation of inflammatory response. Acts upstream of or within adult walking behavior; phosphatidylserine catabolic process; and response to auditory stimulus. Located in dendrite cytoplasm and endoplasmic reticulum membrane. Is integral component of membrane. Part of AMPA glutamate receptor complex. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cortex adult (RPKM 64.9), bladder adult (RPKM 63.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 74.74 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (150674413..150746705, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (150832493..150904779, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
Title: Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
ABHD12 and LPCAT3 Interplay Regulates a Lyso-phosphatidylserine-C20:4 Phosphatidylserine Lipid Network Implicated in Neurological Disease.
Title: ABHD12 and LPCAT3 Interplay Regulates a Lyso-phosphatidylserine-C20:4 Phosphatidylserine Lipid Network Implicated in Neurological Disease.
The substrate profiling study for ABHD12 suggested that this enzyme requires glycosylation for optimal activity and that it has a strong preference for very-long-chain lipid substrates.
Title: Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.
In mouse macrophages, disruption of ABHD12 and ABHD16A respectively increases and decreases both lysophosphatidylserines and lipopolysaccharide-induced cytokine production.
Title: Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.
FAAH but not monoacyl glycerol lipase exerts important protective actions against 2-arachidonoyl glycerol-induced cellular damage.
Title: Fatty acid amide hydrolase but not monoacyl glycerol lipase controls cell death induced by the endocannabinoid 2-arachidonoyl glycerol in hepatic cell populations.
provide a molecular model for PHARC, where disruption of ABHD12 causes deregulated LPS metabolism and the accumulation of proinflammatory lipids that promote microglial and neurobehavioral abnormalities
Title: ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.
Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease.
Title: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Data reveal that 85% of brain 2-arachidonoylglycerol hydrolase activity can be ascribed to monoacylglycerol lipase(MAGL), and the remaining 15% is catalyzed by ABHD6 and ABHD12.
Title: A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW547313 (e-PCR)
- UniSTS:178733

NoName (e-PCR)
- UniSTS:236596

AI431047 (e-PCR)
- UniSTS:159049

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	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables lysophospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysophospholipase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophospholipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables lysophospholipase activity	ISO Inferred from Sequence Orthology more info
enables palmitoyl-(protein) hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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 adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycerophospholipid catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in monoacylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in monoacylglycerol catabolic process	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylserine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphatidylserine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylserine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein depalmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to auditory stimulus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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 endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lysophosphatidylserine lipase ABHD12

Names: 2-arachidonoylglycerol hydrolase ABHD12; abhydrolase domain-containing protein 12; monoacylglycerol lipase ABHD12; oxidized phosphatidylserine lipase ABHD12

NP_001343478.1

EC 3.1.1.23

NP_001343479.1

EC 3.1.1.23

NP_077785.2

EC 3.1.1.23

XP_006500428.2

EC 3.1.1.23

XP_006500430.1

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_001356549.1 → NP_001343478.1 lysophosphatidylserine lipase ABHD12 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL808125, AL954712

Conserved Domains (1) summary

pfam12146
Location:8 → 215

Hydrolase_4; Serine aminopeptidase, S33
NM_001356550.1 → NP_001343479.1 lysophosphatidylserine lipase ABHD12 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL808125, AL954712

Related

ENSMUST00000156641.8

Conserved Domains (1) summary

pfam12146
Location:1 → 153

Hydrolase_4; Serine aminopeptidase, S33
NM_024465.3 → NP_077785.2 lysophosphatidylserine lipase ABHD12 isoform 1

See identical proteins and their annotated locations for NP_077785.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL808125, AL954712

Consensus CDS

CCDS50742.1

UniProtKB/Swiss-Prot

A2ANB4, Q99LR1, Q99M06

Related

ENSMUSP00000053558.9, ENSMUST00000056149.15

Conserved Domains (1) summary

pfam12146
Location:165 → 372

Hydrolase_4; Serine aminopeptidase, S33

RNA

NR_151505.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL808125, AL954712

Related

ENSMUST00000141899.8

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_000068.8 Reference GRCm39 C57BL/6J

Range

150674413..150746705 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500367.5 → XP_006500430.1 lysophosphatidylserine lipase ABHD12 isoform X1

See identical proteins and their annotated locations for XP_006500430.1

Conserved Domains (1) summary

pfam12146
Location:8 → 215

Hydrolase_4; Serine aminopeptidase, S33
XM_006500365.5 → XP_006500428.2 lysophosphatidylserine lipase ABHD12 isoform X1

Conserved Domains (1) summary

pfam12146
Location:8 → 215

Hydrolase_4; Serine aminopeptidase, S33