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

    Gene ID: 57406, updated on 14-Nov-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 monoacylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and postsynaptic membrane. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See ABHD6 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58237792..58294734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58278191..58335141)
    RS_2024_09 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 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?
    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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    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)

    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 monoacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoacylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monoacylglycerol 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 arachidonate 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 IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    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_2024_08

    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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