ABHD6 (abhydrolase domain containing 6, acylglycerol lipase)

2009-06-01  

Identity

HGNC
LOCATION
3p14.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 57406
MIM: 616966
HGNC: 21398
Ensembl: ENSG00000163686

Variants:

dbSNP: 57406
ClinVar: 57406
TCGA: ENSG00000163686
COSMIC: ABHD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163686ENST00000295962Q9BV23
ENSG00000163686ENST00000295962A0A024R323
ENSG00000163686ENST00000463756C9JNE7
ENSG00000163686ENST00000475982F8WBP4
ENSG00000163686ENST00000478253Q9BV23
ENSG00000163686ENST00000478253A0A024R323
ENSG00000163686ENST00000485900C9J010

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Arachidonate production from DAGREACTOMER-HSA-426048
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229691512012Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).41
228279152012Developmental trajectory of the endocannabinoid system in human dorsolateral prefrontal cortex.27
183607792009An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines.17
271145382016α/β-Hydrolase domain-containing 6 (ABHD6) negatively regulates the surface delivery and synaptic function of AMPA receptors.17
264910152015α/β Hydrolase Domain-containing 6 (ABHD6) Degrades the Late Endosomal/Lysosomal Lipid Bis(monoacylglycero)phosphate.13
197930822009High expression of the evolutionarily conserved alpha/beta hydrolase domain containing 6 (ABHD6) in Ewing tumors.12
288804802017Monoacylglycerol signalling and ABHD6 in health and disease.10
245347572015PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.6
307282092019Cutting Edge: Dysregulated Endocannabinoid-Rheostat for Plasmacytoid Dendritic Cell Activation in a Systemic Lupus Endophenotype.2

Citation

Dessen P

ABHD6 (abhydrolase domain containing 6, acylglycerol lipase)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50965/abhd6