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

Gene ID: 57406, updated on 1-Aug-2020

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
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
Expression
Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues See more
Orthologs

Genomic context

See ABHD6 in Genome Data Viewer
Location:
3p14.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58237502..58294736)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58223233..58280463)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1 like 3 Neighboring gene uncharacterized LOC107986091 Neighboring gene ribonuclease P/MRP subunit p14 Neighboring gene hydroxyacyl-thioester dehydratase type 2 Neighboring gene uncharacterized LOC105377106 Neighboring gene PX domain containing serine/threonine kinase like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acylglycerol lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acylglycerol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acylglycerol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
lysobisphosphatidic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
monoacylglycerol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
phospholipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of endocannabinoid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
monoacylglycerol lipase ABHD6
Names
2-arachidonoylglycerol hydrolase
abhydrolase domain containing 6
abhydrolase domain-containing protein 6
lipase protein
NP_001307055.1
NP_065727.4
XP_005265391.1
XP_005265392.1

NCBI Reference Sequences (RefSeq)

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_001320126.2NP_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
    Q9BV23
    UniProtKB/TrEMBL
    A0A024R323
    Related
    ENSP00000420315.1, ENST00000478253.6
    Conserved Domains (2) summary
    COG0596
    Location:51327
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:71160
    Abhydrolase; alpha/beta hydrolases
  2. NM_020676.6NP_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, BF111593, DB171182, HY038261
    Consensus CDS
    CCDS2887.1
    UniProtKB/Swiss-Prot
    Q9BV23
    UniProtKB/TrEMBL
    A0A024R323
    Related
    ENSP00000295962.4, ENST00000295962.8
    Conserved Domains (2) summary
    COG0596
    Location:51327
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:71160
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    58237502..58294736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265334.4XP_005265391.1  monoacylglycerol lipase ABHD6 isoform X1

    See identical proteins and their annotated locations for XP_005265391.1

    Conserved Domains (2) summary
    COG0596
    Location:51328
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:71160
    Abhydrolase; alpha/beta hydrolases
  2. XM_005265335.3XP_005265392.1  monoacylglycerol lipase ABHD6 isoform X1

    See identical proteins and their annotated locations for XP_005265392.1

    Conserved Domains (2) summary
    COG0596
    Location:51328
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:71160
    Abhydrolase; alpha/beta hydrolases
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