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

Gene ID: 57406, updated on 3-Apr-2024

Summary

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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

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Location:
3p14.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58237792..58294734)
RS_2023_10 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_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20001 Neighboring gene deoxyribonuclease 1L3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20002 Neighboring gene uncharacterized LOC107986091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58202830-58203333 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58203334-58203836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58222930-58223869 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58276464-58277147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58298051-58298552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58307710-58308471 Neighboring gene ribonuclease P/MRP subunit p14 Neighboring gene hydroxyacyl-thioester dehydratase type 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14488 Neighboring gene Sharpr-MPRA regulatory region 6112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20010 Neighboring gene uncharacterized LOC105377106 Neighboring gene PX domain containing serine/threonine kinase like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis. Tang Z, et al. EBioMedicine, 2020 Mar. PMID 32143183, Free PMC Article
  2. Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans. Grabner GF, et al. J Lipid Res, 2019 May. PMID 30894461, Free PMC Article
  3. Cutting Edge: Dysregulated Endocannabinoid-Rheostat for Plasmacytoid Dendritic Cell Activation in a Systemic Lupus Endophenotype. Rahaman O, et al. J Immunol, 2019 Mar 15. PMID 30728209
  4. Monoacylglycerol signalling and ABHD6 in health and disease. Poursharifi P, et al. Diabetes Obes Metab, 2017 Sep. PMID 28880480
  5. Optimization of 1,2,5-thiadiazole carbamates as potent and selective ABHD6 inhibitors. Patel JZ, et al. ChemMedChem, 2015 Feb. PMID 25504894, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ABHD6 suppresses colorectal cancer progression via AKT signaling pathway.
    Title: ABHD6 suppresses colorectal cancer progression via AKT signaling pathway.
  2. Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis.
    Title: Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. ABHD6 increases from neonatal age.
    Title: Developmental trajectory of the endocannabinoid system in human dorsolateral prefrontal cortex.
  10. 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).
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 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
  
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
  
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
NP_065727.4
XP_005265391.1
XP_005265392.1
XP_047304585.1
XP_047304586.1
XP_054203343.1
XP_054203344.1
XP_054203345.1
XP_054203346.1

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)

  1. 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
    B2R7Y9, Q6ZMF7, Q9BV23
    UniProtKB/TrEMBL
    Q9HBL9
    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]

  2. 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
    B2R7Y9, Q6ZMF7, Q9BV23
    UniProtKB/TrEMBL
    Q9HBL9
    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_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58237792..58294734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_005265391.1

    UniProtKB/TrEMBL
    Q9HBL9
    Conserved Domains (1) summary
    COG0596
    Location:51 → 328
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

  2. XM_005265335.4 → XP_005265392.1  monoacylglycerol lipase ABHD6 isoform X1

    See identical proteins and their annotated locations for XP_005265392.1

    UniProtKB/TrEMBL
    Q9HBL9
    Conserved Domains (1) summary
    COG0596
    Location:51 → 328
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

  3. XM_047448629.1 → XP_047304585.1  monoacylglycerol lipase ABHD6 isoform X1

  4. XM_047448630.1 → XP_047304586.1  monoacylglycerol lipase ABHD6 isoform X2

    UniProtKB/Swiss-Prot
    B2R7Y9, Q6ZMF7, Q9BV23

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58278191..58335141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347368.1 → XP_054203343.1  monoacylglycerol lipase ABHD6 isoform X1

  2. XM_054347370.1 → XP_054203345.1  monoacylglycerol lipase ABHD6 isoform X1

  3. XM_054347371.1 → XP_054203346.1  monoacylglycerol lipase ABHD6 isoform X2

    UniProtKB/Swiss-Prot
    B2R7Y9, Q6ZMF7, Q9BV23

  4. XM_054347369.1 → XP_054203344.1  monoacylglycerol lipase ABHD6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BV23.1 GenPept UniProtKB/Swiss-Prot:Q9BV23

Gene LinkOut

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