• Gene id: 11343

Gene Summary

• Gene Symbol: MGLL   Gene   UCSC   Ensembl
• Aliases: HU-K5, HUK5, MAGL, MGL
• Gene name: monoglyceride lipase
• Alternate names: monoglyceride lipase, lysophospholipase homolog, monoacylglycerol lipase,
• Gene location: 3q21.3 (127823249: 127689061)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and noci
• OMIM: 608759

Protein Summary

• Protein general information: Q99685  
  • Name: Monoglyceride lipase (MGL) (EC 3.1.1.23) (HU K5) (Lysophospholipase homolog) (Lysophospholipase like) (Monoacylglycerol lipase) (MAGL)
  • Length: 303  
  • Mass: 33261
  • Tissue specificity: Detected in adipose tissue, lung, liver, kidney, brain and heart. {ECO
• Sequence:

  MPEESSPRRTPQSIPYQDLPHLVNADGQYLFCRYWKPTGTPKALIFVSHGAGEHSGRYEELARMLMGLDLLVFAH
  DHVGHGQSEGERMVVSDFHVFVRDVLQHVDSMQKDYPGLPVFLLGHSMGGAIAILTAAERPGHFAGMVLISPLVL
  ANPESATTFKVLAAKVLNLVLPNLSLGPIDSSVLSRNKTEVDIYNSDPLICRAGLKVCFGIQLLNAVSRVERALP
  KLTVPFLLLQGSADRLCDSKGAYLLMELAKSQDKTLKIYEGAYHVLHKELPEVTNSVFHEINMWVSQRTATAGTA
  SPP

• Structural information:
  • Interpro: IPR029058  IPR000073  IPR022742  
  • Prosite: PS00120
  • PDB: 3HJU 3JW8 3JWE 3PE6 4UUQ 5ZUN 6AX1 6BQ0
  • PDBsum: 3HJU 3JW8 3JWE 3PE6 4UUQ 5ZUN 6AX1 6BQ0
  • STRING: ENSP00000265052
• Other Databases: GeneCards:  MGLL  Malacards:  MGLL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016298	lipase activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0047372	acylglycerol lipase activity	IBA	molecular function
GO:0046464	acylglycerol catabolic process	IDA	biological process
GO:0047372	acylglycerol lipase activity	IDA	molecular function
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0052651	monoacylglycerol catabolic process	ISS	biological process
GO:2000124	regulation of endocannabinoid signaling pathway	ISS	biological process
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0046464	acylglycerol catabolic process	ISS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0051930	regulation of sensory perception of pain	ISS	biological process
GO:0047372	acylglycerol lipase activity	ISS	molecular function
GO:0019369	arachidonic acid metabolic process	ISS	biological process
GO:0009966	regulation of signal transduction	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004622	lysophospholipase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0047372	acylglycerol lipase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0036155	acylglycerol acyl-chain remodeling	TAS	biological process
GO:0047372	acylglycerol lipase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0019433	triglyceride catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00561	Glycerolipid metabolism
hsa04923	Regulation of lipolysis in adipocytes

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray