ABHD6 - abhydrolase domain containing 6, acylglycerol lipase Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57406

About ABHD6

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,237,792-58,294,734 (from NCBI)

This gene has 7 transcripts (splice variants), 235 orthologues and 12 paralogues. Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues.

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]

ABHD6 Products (2)

mRNA	Protein	Name
NM_001320126.2	NP_001307055.1	monoacylglycerol lipase ABHD6
NM_020676.7	NP_065727.4	monoacylglycerol lipase ABHD6

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables monoacylglycerol lipase activity	IDA IDA: Inferred from direct assay	22969151	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in acylglycerol catabolic process	IDA IDA: Inferred from direct assay	22969151	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABHD6 Protein Structure

Abhydrolase_6

0
100
200
300
337 a.a.

Protein Preferred Names	Protein Names
monoacylglycerol lipase ABHD6	2-arachidonoylglycerol hydrolase

ABHD6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ABHD6	Q9BV23	TVP23B	Homo sapiens	Q9NYZ1	Validated Y2H	32296183
Intra	ABHD6	Q9BV23	FIS1	Homo sapiens	Q9Y3D6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-18542	KT195	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (30)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-136924	FP-Biotin		99.08%	Unkown
HY-110148	WWL113	Inhibitor	99.72%	Unkown
HY-100337	WWL70	Inhibitor	99.95%	Unkown
HY-120177	KT182	Inhibitor	99.77%	Unkown
HY-120215	KT203	Inhibitor	99.77%	Unkown
HY-125143	ABC34	Inhibitor	99.90%	Unkown
HY-152148	JZP-MA-11	Inhibitor	99.26%	Unkown
HY-18544	AA38-3	Inhibitor	99.95%	Unkown
HY-132310	MAGL-IN-4	Inhibitor	99.79%	Unkown
HY-101457	JZP-430	Inhibitor	99.74%	Unkown
HY-121422	JZP-361	Inhibitor	99.63%	Unkown
HY-124314	LEI-106	Inhibitor	99.9%	Unkown
HY-114926	KT185	Inhibitor	99.37%	Unkown
HY-132246	WWL123 analogue-1	Inhibitor	98.04%	Unkown
HY-103463	SA57	Inhibitor	≥99.0%	Unkown
HY-110178	WWL123	Inhibitor	98.0%	Unkown
HY-116212	JCP-170	Inhibitor	/	Unkown
HY-116793	Dimepiperate		/	Unkown
HY-117722	JW 618	Inhibitor	/	Unkown
HY-120126	ML378	Inhibitor	/	Unkown
HY-120171	DH-376	Inhibitor	/	Unkown
HY-152152	JZP-MA-13	Inhibitor	/	Unkown
HY-158338	ABHD antagonist 1	Antagonist	/	Unkown
HY-158339	ABHD antagonist 2	Antagonist	/	Unkown
HY-184029	PF-7845yne		/	Unkown
HY-RS00097	ABHD6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-126031	(R)-KT109	Inhibitor	/	Unkown
HY-126031A	(S)-KT109		/	Unkown
HY-RS16727	Abhd6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23163	Abhd6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABHD6	VGNC	VGNC:59486
Macaca mulatta	ABHD6	VGNC	VGNC:69492
Bos taurus	ABHD6	VGNC	VGNC:25503
Rattus norvegicus	ABHD6	RGD	RGD:1359323
Canis familiaris	ABHD6	VGNC	VGNC:37472
Mus musculus	ABHD6	MGD	MGI:1913332
Others	ABHD6	NCBI