• Gene id: 57406

Gene Summary

• Gene Symbol: ABHD6   Gene   UCSC   Ensembl
• Gene name: abhydrolase domain containing 6, acylglycerol lipase
• Alternate names: monoacylglycerol lipase ABHD6, 2-arachidonoylglycerol hydrolase, abhydrolase domain containing 6, abhydrolase domain-containing protein 6, lipase protein,
• Gene location: 3p14.3 (58237501: 58294735)     Exons: 10     NC_000003.12
• OMIM: 607074

Protein Summary

• Protein general information: Q9BV23  
  • Name: Monoacylglycerol lipase ABHD6 (EC 3.1.1.23) (2 arachidonoylglycerol hydrolase) (Abhydrolase domain containing protein 6)
  • Length: 337  
  • Mass: 38331
• Sequence:

  MDLDVVNMFVIAGGTLAIPILAFVASFLLWPSALIRIYYWYWRRTLGMQVRYVHHEDYQFCYSFRGRPGHKPSIL
  MLHGFSAHKDMWLSVVKFLPKNLHLVCVDMPGHEGTTRSSLDDLSIDGQVKRIHQFVECLKLNKKPFHLVGTSMG
  GQVAGVYAAYYPSDVSSLCLVCPAGLQYSTDNQFVQRLKELQGSAAVEKIPLIPSTPEEMSEMLQLCSYVRFKVP
  QQILQGLVDVRIPHNNFYRKLFLEIVSEKSRYSLHQNMDKIKVPTQIIWGKQDQVLDVSGADMLAKSIANCQVEL
  LENCGHSVVMERPRKTAKLIIDFLASVHNTDNNKKLD

• Structural information:
  • Protein Domains: (72..31-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  IPR000639  
  • STRING: ENSP00000420315
• Other Databases: GeneCards:  ABHD6  Malacards:  ABHD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046464	acylglycerol catabolic process	IBA	biological process
GO:0004620	phospholipase activity	IBA	molecular function
GO:0047372	acylglycerol lipase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0046464	acylglycerol catabolic process	IDA	biological process
GO:0047372	acylglycerol lipase activity	IDA	molecular function
GO:0031902	late endosome membrane	ISS	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0052651	monoacylglycerol catabolic process	ISS	biological process
GO:2001311	lysobisphosphatidic acid metabolic process	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0047372	acylglycerol lipase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004620	phospholipase activity	IEA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0009395	phospholipid catabolic process	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0046464	acylglycerol catabolic process	IEA	biological process
GO:0052651	monoacylglycerol catabolic process	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:2000124	regulation of endocannabinoid signaling pathway	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0046889	positive regulation of lipid biosynthetic process	IEA	biological process
GO:0047372	acylglycerol lipase activity	IEA	molecular function
GO:0060292	long-term synaptic depression	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:2001311	lysobisphosphatidic acid metabolic process	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04723	Retrograde endocannabinoid signaling

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R