MGLL monoglyceride lipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MGLLprovided by HGNC
Official Full Name: monoglyceride lipaseprovided by HGNC
Primary source: HGNC:HGNC:17038
See related: Ensembl:ENSG00000074416 MIM:609699; AllianceGenome:HGNC:17038
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGL; HUK5; MAGL; HU-K5
Summary: 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 nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Expression: Broad expression in fat (RPKM 103.8), esophagus (RPKM 51.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (127689066..127823185, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (130423721..130557760, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (127407909..127542028, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of MAGL attenuates Intervertebral Disc Degeneration by Delaying nucleus pulposus senescence through STING.
Title: Inhibition of MAGL attenuates Intervertebral Disc Degeneration by Delaying nucleus pulposus senescence through STING.
MAGL protects against renal fibrosis through inhibiting tubular cell lipotoxicity.
Title: MAGL protects against renal fibrosis through inhibiting tubular cell lipotoxicity.
IL-8-induced CXCR2 down-regulation in circulating monocytes in hepatocellular carcinoma is partially dependent on MAGL.
Title: IL-8-induced CXCR2 down-regulation in circulating monocytes in hepatocellular carcinoma is partially dependent on MAGL.
Decreased serum levels of glycerol-3- phosphate dehydrogenase 1 and monoacylglycerol lipase act as diagnostic biomarkers for breast cancer.
Title: Decreased serum levels of glycerol-3- phosphate dehydrogenase 1 and monoacylglycerol lipase act as diagnostic biomarkers for breast cancer.
Research progress on FASN and MGLL in the regulation of abnormal lipid metabolism and the relationship between tumor invasion and metastasis.
Title: Research progress on FASN and MGLL in the regulation of abnormal lipid metabolism and the relationship between tumor invasion and metastasis.
Brain structural changes in cannabis dependence: association with MAGL.
Title: Brain structural changes in cannabis dependence: association with MAGL.
Dysregulated expression of monoacylglycerol lipase is a marker for anti-diabetic drug metformin-targeted therapy to correct impaired neurogenesis and spatial memory in Alzheimer's disease.
Title: Dysregulated expression of monoacylglycerol lipase is a marker for anti-diabetic drug metformin-targeted therapy to correct impaired neurogenesis and spatial memory in Alzheimer's disease.
Conformational gating, dynamics and allostery in human monoacylglycerol lipase.
Title: Conformational gating, dynamics and allostery in human monoacylglycerol lipase.
ARS2/MAGL signaling in glioblastoma stem cells promotes self-renewal and M2-like polarization of tumor-associated macrophages.
Title: ARS2/MAGL signaling in glioblastoma stem cells promotes self-renewal and M2-like polarization of tumor-associated macrophages.
Low mRNA expression and activity of monoacylglycerol lipase in human SH-SY5Y neuroblastoma cells
Title: Low mRNA expression and activity of monoacylglycerol lipase in human SH-SY5Y neuroblastoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11831 (e-PCR)
- UniSTS:83496

D8S2279 (e-PCR)
- UniSTS:473907

D3S3895 (e-PCR)
- UniSTS:70992

SGC32737 (e-PCR)
- UniSTS:43868

D3S3900 (e-PCR)
- UniSTS:80990

G09417 (e-PCR)
- UniSTS:80746

D10S16 (e-PCR)
- UniSTS:155756

SHGC-77310 (e-PCR)
- UniSTS:73103

D16S325 (e-PCR)
- UniSTS:147089

G44334 (e-PCR)
- UniSTS:95121

SHGC-77305 (e-PCR)
- UniSTS:56475

G62957 (e-PCR)
- UniSTS:139932

G63610 (e-PCR)
- UniSTS:140721

RH11571 (e-PCR)
- UniSTS:27842

G30009 (e-PCR)
- UniSTS:19409

SHGC-31856 (e-PCR)
- UniSTS:42214

SHGC-77321 (e-PCR)
- UniSTS:15090

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol lipase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acylglycerol lipase activity	TAS Traceable Author Statement more info
enables lysophospholipase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acylglycerol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in arachidonic acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in arachidonic acid metabolic process	TAS Traceable Author Statement more info
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in monoacylglycerol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endocannabinoid signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of sensory perception of pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in triglyceride catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: monoglyceride lipase

Names: lysophospholipase homolog; monoacylglycerol lipase

NP_001003794.1

EC 3.1.1.23

NP_001243514.1

EC 3.1.1.23

NP_001375241.1

EC 3.1.1.23

NP_001375242.1

EC 3.1.1.23

NP_001375243.1

EC 3.1.1.23

NP_001375244.1

EC 3.1.1.23

NP_001375245.1

EC 3.1.1.23

NP_001375246.1

EC 3.1.1.23

NP_001375247.1

EC 3.1.1.23

NP_009214.1

EC 3.1.1.23

XP_016861154.1

EC 3.1.1.23

XP_047303339.1

EC 3.1.1.23

XP_047303340.1

EC 3.1.1.23

XP_054201093.1

EC 3.1.1.23

XP_054201094.1

EC 3.1.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001003794.3 → NP_001003794.1 monoglyceride lipase isoform 2

See identical proteins and their annotated locations for NP_001003794.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC023593, AJ270950, AL833254, BP307995, BX403703

Consensus CDS

CCDS43148.1

UniProtKB/Swiss-Prot

B3KRC2, B7Z9D1, Q6IBG9, Q96AA5, Q99685

UniProtKB/TrEMBL

A0A3B3ITT3

Related

ENSP00000381176.1, ENST00000398104.6

Conserved Domains (1) summary

cl21494
Location:22 → 294

Abhydrolase; alpha/beta hydrolases
NM_001256585.2 → NP_001243514.1 monoglyceride lipase isoform 3

See identical proteins and their annotated locations for NP_001243514.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC023593, AK304844, AL833254, BM051374, EU660904

Consensus CDS

CCDS58852.1

UniProtKB/TrEMBL

A0A3B3ITT3

Related

ENSP00000404146.2, ENST00000453507.7

Conserved Domains (1) summary

cl21494
Location:32 → 274

Abhydrolase; alpha/beta hydrolases
NM_001388312.1 → NP_001375241.1 monoglyceride lipase isoform 4

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

Conserved Domains (1) summary

cl21494
Location:32 → 330

Abhydrolase; alpha/beta hydrolases
NM_001388313.1 → NP_001375242.1 monoglyceride lipase isoform 5

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

Conserved Domains (1) summary

cl21494
Location:22 → 320

Abhydrolase; alpha/beta hydrolases
NM_001388314.1 → NP_001375243.1 monoglyceride lipase isoform 6

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

UniProtKB/TrEMBL

A0A3B3ITT3

Related

ENSP00000497905.1, ENST00000648300.1

Conserved Domains (1) summary

cl21494
Location:22 → 263

Abhydrolase; alpha/beta hydrolases
NM_001388315.1 → NP_001375244.1 monoglyceride lipase isoform 7

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

UniProtKB/TrEMBL

Q2VYF8

Conserved Domains (1) summary

cl21494
Location:52 → 294

Abhydrolase; alpha/beta hydrolases
NM_001388316.1 → NP_001375245.1 monoglyceride lipase isoform 8

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

UniProtKB/TrEMBL

A0A3B3ITT3, B2ZGL7

Conserved Domains (1) summary

cl21494
Location:22 → 264

Abhydrolase; alpha/beta hydrolases
NM_001388317.1 → NP_001375246.1 monoglyceride lipase isoform 9

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

UniProtKB/TrEMBL

Q2VYF8

Conserved Domains (1) summary

cl21494
Location:52 → 268

Abhydrolase; alpha/beta hydrolases
NM_001388318.1 → NP_001375247.1 monoglyceride lipase isoform 9

Status: REVIEWED

Source sequence(s)

AC023593, AC117480

UniProtKB/TrEMBL

Q2VYF8

Conserved Domains (1) summary

cl21494
Location:52 → 268

Abhydrolase; alpha/beta hydrolases
NM_007283.7 → NP_009214.1 monoglyceride lipase isoform 1

See identical proteins and their annotated locations for NP_009214.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC023593, AL833254, BC006230

Consensus CDS

CCDS46902.1

UniProtKB/TrEMBL

A0A0C4DFN3, A0A3B3ITT3

Related

ENSP00000265052.5, ENST00000265052.10

Conserved Domains (1) summary

cl21494
Location:32 → 304

Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

127689066..127823185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447384.1 → XP_047303340.1 monoglyceride lipase isoform X3
XM_017005665.2 → XP_016861154.1 monoglyceride lipase isoform X2

UniProtKB/TrEMBL

Q2VYF8

Conserved Domains (1) summary

cl21494
Location:52 → 268

Abhydrolase; alpha/beta hydrolases
XM_047447383.1 → XP_047303339.1 monoglyceride lipase isoform X1