ABHD6 abhydrolase domain containing 6, acylglycerol lipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD6provided by HGNC
Official Full Name: abhydrolase domain containing 6, acylglycerol lipaseprovided by HGNC
Primary source: HGNC:HGNC:21398
See related: Ensembl:ENSG00000163686 MIM:616966; AllianceGenome:HGNC:21398
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables acylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and mitochondrion. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (58237792..58294734)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (58278191..58335141)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (58223519..58280461)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis.
Title: Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis.
It demonstrate that ABHD6 affect Bis(monoacylglycerol)phosphate (BMP) metabolism in mice and humans.
Title: Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans.
We discovered a regulatory role of ABHD6 in human plasmacytoid dendritic cells (pDCs) through modulating the local abundance of its substrate, the endocannabinoid 2-arachidonyl glycerol (2-AG), and elucidated a hitherto unknown cannabinoid receptor 2-mediated regulatory role of 2-AG on IFN-alpha induction by pDCs.
Title: Cutting Edge: Dysregulated Endocannabinoid-Rheostat for Plasmacytoid Dendritic Cell Activation in a Systemic Lupus Endophenotype.
Data suggest that ABHD6 plays important role in regulation of signaling via monoacylglycerols (MAGs) in both central and peripheral tissues; alterations in MAG signaling are involved in type 2 diabetes, obesity, and metabolic syndrome. [REVIEW]
Title: Monoacylglycerol signalling and ABHD6 in health and disease.
The hydrolase activity of ABHD6 was not required for the effects of ABHD6 on AMPAR function in either neurons or transfected HEK293T cells. Thus, these findings reveal a novel and unexpected mechanism governing AMPAR trafficking at synapses through ABHD6.
Title: α/β-Hydrolase domain-containing 6 (ABHD6) negatively regulates the surface delivery and synaptic function of AMPA receptors.
data suggest that ABHD6 controls BMP catabolism and is therefore part of the late endosomal/lysosomal lipid-sorting machinery
Title: α/β Hydrolase Domain-containing 6 (ABHD6) Degrades the Late Endosomal/Lysosomal Lipid Bis(monoacylglycero)phosphate.
Results confirm the genetic association of the locus 3p14.3 with systemic lupus erythematosus in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region.
Title: PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.
ABHD6 increases from neonatal age.
Title: Developmental trajectory of the endocannabinoid system in human dorsolateral prefrontal cortex.
Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol.
Title: Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).
High expression of ABHD6 in Ewing family tumors (EFT) in comparison to normal tissues and other tumors suggests that ABHD6 might be an interesting new diagnostic or therapeutic target for EFT.
Title: High expression of the evolutionarily conserved alpha/beta hydrolase domain containing 6 (ABHD6) in Ewing tumors.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC152246P1 (e-PCR)
- UniSTS:271203

G20643 (e-PCR)
- UniSTS:60553

STS-G20643 (e-PCR)
- UniSTS:60554

RH124597 (e-PCR)
- UniSTS:161419

RH80347 (e-PCR)
- UniSTS:85915

SHGC-155512 (e-PCR)
- UniSTS:183752

Homology

Homologs of the ABHD6 gene: The ABHD6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 338 organisms have orthologs with human gene ABHD6
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables acylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol lipase activity	TAS Traceable Author Statement more info
enables phospholipase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in acylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in arachidonic acid metabolic process	TAS Traceable Author Statement more info
involved_in long-term synaptic depression	IEA Inferred from Electronic Annotation more info
involved_in lysobisphosphatidic acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoacylglycerol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in phospholipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of endocannabinoid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of retrograde trans-synaptic signaling by endocanabinoid	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IEA Inferred from Electronic Annotation more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: monoacylglycerol lipase ABHD6

Names: 2-arachidonoylglycerol hydrolase; abhydrolase domain-containing protein 6; lipase protein

NP_001307055.1

EC 3.1.1.23

NP_065727.4

EC 3.1.1.23

XP_005265391.1

EC 3.1.1.23

XP_005265392.1

EC 3.1.1.23

XP_047304585.1

EC 3.1.1.23

XP_047304586.1

EC 3.1.1.23

XP_054203343.1

EC 3.1.1.23

XP_054203344.1

EC 3.1.1.23

XP_054203345.1

EC 3.1.1.23

XP_054203346.1

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_001320126.2 → NP_001307055.1 monoacylglycerol lipase ABHD6

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK122983, BC001698, BF111593, DB171182

Consensus CDS

CCDS2887.1

UniProtKB/Swiss-Prot

Q6ZMF7, Q9BV23

UniProtKB/TrEMBL

A0A024R323

Related

ENSP00000420315.1, ENST00000478253.6

Conserved Domains (1) summary

COG0596
Location:51 → 327

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
NM_020676.7 → NP_065727.4 monoacylglycerol lipase ABHD6

See identical proteins and their annotated locations for NP_065727.4

Status: VALIDATED

Description

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

Source sequence(s)

BC001698, DB171182

Consensus CDS

CCDS2887.1

UniProtKB/Swiss-Prot

Q6ZMF7, Q9BV23

UniProtKB/TrEMBL

A0A024R323

Related

ENSP00000295962.4, ENST00000295962.8

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_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

58237792..58294734

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265334.5 → XP_005265391.1 monoacylglycerol lipase ABHD6 isoform X1

See identical proteins and their annotated locations for XP_005265391.1

Conserved Domains (1) summary

COG0596
Location:51 → 328

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
XM_005265335.4 → XP_005265392.1 monoacylglycerol lipase ABHD6 isoform X1

See identical proteins and their annotated locations for XP_005265392.1

Conserved Domains (1) summary

COG0596
Location:51 → 328

MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
XM_047448629.1 → XP_047304585.1 monoacylglycerol lipase ABHD6 isoform X1
XM_047448630.1 → XP_047304586.1 monoacylglycerol lipase ABHD6 isoform X2

UniProtKB/Swiss-Prot

Q6ZMF7

UniProtKB/TrEMBL

A0A024R323