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Aliases for ABHD6 Gene

Aliases for ABHD6 Gene

  • Abhydrolase Domain Containing 6 2 3 5
  • Abhydrolase Domain-Containing Protein 6 3 4
  • 2-Arachidonoylglycerol Hydrolase 3 4
  • Monoacylglycerol Lipase ABHD6 3
  • Lipase Protein 3
  • EC 3.1.1.23 4

External Ids for ABHD6 Gene

Previous GeneCards Identifiers for ABHD6 Gene

  • GC03P058078
  • GC03P058180

Summaries for ABHD6 Gene

GeneCards Summary for ABHD6 Gene

ABHD6 (Abhydrolase Domain Containing 6) is a Protein Coding gene. Among its related pathways are Effects of PIP2 hydrolysis and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include acylglycerol lipase activity.

UniProtKB/Swiss-Prot for ABHD6 Gene

  • Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).

Tocris Summary for ABHD6 Gene

Additional gene information for ABHD6 Gene

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD6 Gene

Genomics for ABHD6 Gene

GeneHancer (GH) Regulatory Elements for ABHD6 Gene

Promoters and enhancers for ABHD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J058236 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660.3 +0.2 239 2 CLOCK MLX ARID4B SIN3A DMAP1 YY1 GLIS2 GATA2 ZNF207 ZNF143 ABHD6 PXK DENND6A RPP14
GH03J058160 Promoter/Enhancer 1.7 EPDnew ENCODE dbSUPER 660.6 -73.9 -73888 5.5 HDGF PKNOX1 ATF1 FOXA2 ARNT SIN3A YY1 POLR2B ZNF766 FOS ABHD6 FLNB DNASE1L3 FLNB-AS1 RPP14 GC03P058010
GH03J058248 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 656 +12.4 12391 2.2 HDGF FOXA2 ARID4B RAD21 RARA YY1 ZNF335 ZNF614 EGR1 ZSCAN5C ABHD6 RPP14 PXK
GH03J058305 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 +69.8 69803 3.3 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 RPP14 HTD2 DENND6A ABHD6 PDHB ENSG00000273493 PXK PIR62243
GH03J058332 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 +97.0 96953 4.6 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF416 PXK DENND6A FLNB-AS1 FLNB KCTD6 RPP14 PDE12 LOC105377110 HTD2 FAM107A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD6 gene promoter:
  • AML1a
  • JunD
  • JunB
  • Fra-1
  • FosB
  • c-Jun
  • c-Fos
  • AP-1
  • Bach2
  • HNF-4alpha2

Genomic Locations for ABHD6 Gene

Genomic Locations for ABHD6 Gene
chr3:58,237,506-58,295,693
(GRCh38/hg38)
Size:
58,188 bases
Orientation:
Plus strand
chr3:58,223,233-58,281,420
(GRCh37/hg19)
Size:
58,188 bases
Orientation:
Plus strand

Genomic View for ABHD6 Gene

Genes around ABHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD6 Gene

Proteins for ABHD6 Gene

  • Protein details for ABHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV23-ABHD6_HUMAN
    Recommended name:
    Monoacylglycerol lipase ABHD6
    Protein Accession:
    Q9BV23
    Secondary Accessions:
    • B2R7Y9
    • Q6ZMF7

    Protein attributes for ABHD6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD6 Gene

Post-translational modifications for ABHD6 Gene

  • Ubiquitination at Lys223
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD6 Gene

Domains & Families for ABHD6 Gene

Gene Families for ABHD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ABHD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV23

UniProtKB/Swiss-Prot:

ABHD6_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD6: view

Function for ABHD6 Gene

Molecular function for ABHD6 Gene

UniProtKB/Swiss-Prot Function:
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolyzes glycerol monoesters of long-chain fatty acids.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=159 uM for 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; Vmax=45 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269 PubMed:22969151};

Enzyme Numbers (IUBMB) for ABHD6 Gene

Phenotypes From GWAS Catalog for ABHD6 Gene

Gene Ontology (GO) - Molecular Function for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity TAS --
genes like me logo Genes that share ontologies with ABHD6: view
genes like me logo Genes that share phenotypes with ABHD6: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD6 Gene

Localization for ABHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD6 Gene

Membrane; Single-pass type II membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 4
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,ISS --
GO:0032281 AMPA glutamate receptor complex IEA --
genes like me logo Genes that share ontologies with ABHD6: view

Pathways & Interactions for ABHD6 Gene

genes like me logo Genes that share pathways with ABHD6: view

Pathways by source for ABHD6 Gene

Interacting Proteins for ABHD6 Gene

Gene Ontology (GO) - Biological Process for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009395 phospholipid catabolic process IEA --
GO:0030336 negative regulation of cell migration IEA --
GO:0046464 acylglycerol catabolic process IDA 22969151
GO:0046889 positive regulation of lipid biosynthetic process IEA --
GO:0060292 long term synaptic depression IEA --
genes like me logo Genes that share ontologies with ABHD6: view

No data available for SIGNOR curated interactions for ABHD6 Gene

Drugs & Compounds for ABHD6 Gene

(5) Drugs for ABHD6 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 175
Water Approved Pharma 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0
Flurofamide Pharma Urease inhibitor 0
SCH 51344 Pharma MTH1 inhibitor, Potent MTH1 inhibitor 0

(3) Tocris Compounds for ABHD6 Gene

Compound Action Cas Number
Flurofamide Urease inhibitor 70788-28-2
SCH 51344 Potent MTH1 inhibitor 171927-40-5
WWL 70 Potent ABHD6 inhibitor 947669-91-2

(1) ApexBio Compounds for ABHD6 Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with ABHD6: view

Drug Products

Transcripts for ABHD6 Gene

Unigene Clusters for ABHD6 Gene

Abhydrolase domain containing 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for ABHD6 Gene

GeneLoc Exon Structure for
ABHD6
ECgene alternative splicing isoforms for
ABHD6

Expression for ABHD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD6 Gene

Protein differential expression in normal tissues from HIPED for ABHD6 Gene

This gene is overexpressed in Nasal epithelium (44.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABHD6 Gene:

ABHD6

SOURCE GeneReport for Unigene cluster for ABHD6 Gene:

Hs.476454

Evidence on tissue expression from TISSUES for ABHD6 Gene

  • Nervous system(4.9)
  • Lung(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ABHD6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD6 Gene

Orthologs for ABHD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD6 34 33
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD6 34 33
  • 91.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD6 34 33
  • 90.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd6 16 34 33
  • 90.12 (n)
rat
(Rattus norvegicus)
Mammalia Abhd6 33
  • 88.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD6 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD6 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD6 34 33
  • 74.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD6 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd6 33
  • 71.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia abhd6-prov 33
zebrafish
(Danio rerio)
Actinopterygii abhd6a 34 33
  • 67.16 (n)
OneToMany
abhd6b 34
  • 64 (a)
OneToMany
Dr.13980 33
Species where no ortholog for ABHD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABHD6 Gene

ENSEMBL:
Gene Tree for ABHD6 (if available)
TreeFam:
Gene Tree for ABHD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD6: view image

Paralogs for ABHD6 Gene

No data available for Paralogs for ABHD6 Gene

Variants for ABHD6 Gene

Sequence variations from dbSNP and Humsavar for ABHD6 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000003223 -- 58,275,685(+) G/A intron_variant
rs1000104425 -- 58,270,986(+) A/G coding_sequence_variant, missense_variant
rs1000111699 -- 58,251,720(+) C/G intron_variant
rs1000121808 -- 58,251,461(+) C/G intron_variant
rs1000244922 -- 58,249,854(+) T/ 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD6 Gene

Variant ID Type Subtype PubMed ID
nsv834703 CNV gain 17160897
nsv590369 CNV loss 21841781
nsv528147 CNV gain 19592680
nsv1001814 CNV gain 25217958
esv3596243 CNV loss 21293372
esv3596242 CNV loss 21293372
esv3561931 CNV deletion 23714750
esv2660248 CNV deletion 23128226

Variation tolerance for ABHD6 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD6 Gene

Human Gene Mutation Database (HGMD)
ABHD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD6 Gene

Disorders for ABHD6 Gene

Additional Disease Information for ABHD6

No disorders were found for ABHD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD6 Gene

Publications for ABHD6 Gene

  1. Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D … Laitinen JT (Journal of lipid research 2012) 2 3 4 58
  2. An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines. (PMID: 18360779) Li F … Ji C (Molecular biology reports 2009) 3 22 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ABHD6 Gene

Sources for ABHD6 Gene

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