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    MGLL monoglyceride lipase [ Homo sapiens (human) ]

    Gene ID: 11343, updated on 17-Jun-2019

    Summary

    Official Symbol
    MGLLprovided by HGNC
    Official Full Name
    monoglyceride lipaseprovided by HGNC
    Primary source
    HGNC:HGNC:17038
    See related
    Ensembl:ENSG00000074416 MIM:609699
    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

    Genomic context

    See MGLL in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (127689062..127823250, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127407905..127542093, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene podocalyxin like 2 Neighboring gene ankyrin repeat and BTB domain containing 1 Neighboring gene uncharacterized LOC107986127 Neighboring gene MGLL intron CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096 Neighboring gene kelch repeat and BTB domain containing 12 Neighboring gene RNA, 5S ribosomal pseudogene 139

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Acyl chain remodeling of DAG and TAG, organism-specific biosystem (from REACTOME)
      Acyl chain remodeling of DAG and TAG, organism-specific biosystemAcyl chain remodeling of triacylglycerol (TAG) and diacylglycerol (DAG) progresses through their hydrolysis by patatin-like phospholipase domain-containing proteins 2/3 (PNPLA2/3). DAG is reacylated...
    • Acylglycerol degradation, organism-specific biosystem (from KEGG)
      Acylglycerol degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    • Acylglycerol degradation, conserved biosystem (from KEGG)
      Acylglycerol degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    • Arachidonate production from DAG, organism-specific biosystem (from REACTOME)
      Arachidonate production from DAG, organism-specific biosystemDiacylglycerol (DAG) is an important source of arachidonic acid, a signalling molecule and the precursor of the prostaglandins. In human platelet almost all the DAG produced from phosphatidylinositol...
    • Effects of PIP2 hydrolysis, organism-specific biosystem (from REACTOME)
      Effects of PIP2 hydrolysis, organism-specific biosystemHydrolysis of phosphatidyl inositol-bisphosphate (PIP2) by phospholipase C (PLC) produces diacylglycerol (DAG) and inositol triphosphate (IP3). Both are potent second messengers. IP3 diffuses into th...
    • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • Glycerolipid metabolism, organism-specific biosystem (from KEGG)
      Glycerolipid metabolism, organism-specific biosystem
      Glycerolipid metabolism
    • Glycerolipid metabolism, conserved biosystem (from KEGG)
      Glycerolipid metabolism, conserved biosystem
      Glycerolipid metabolism
    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis, organism-specific biosystem (from REACTOME)
      Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis, organism-specific biosystemTriacylglycerol is a major energy store in the body and its hydrolysis to yield fatty acids and glycerol is a tightly regulated part of energy metabolism. A central part in this regulation is played ...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
      Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • triacylglycerol degradation, organism-specific biosystem (from BIOCYC)
      triacylglycerol degradation, organism-specific biosystem
      triacylglycerol degradation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acylglycerol lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acylglycerol lipase activity TAS
    Traceable Author Statement
    more info
     
    lysophospholipase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    acylglycerol catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acylglycerol catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    arachidonic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    monoacylglycerol catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of endocannabinoid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    extrinsic component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    monoglyceride lipase
    Names
    lysophospholipase homolog
    monoacylglycerol lipase
    NP_001003794.1
    NP_001243514.1
    NP_009214.1
    XP_011510679.1
    XP_011510680.1
    XP_011510681.1
    XP_011510684.1
    XP_011510685.1
    XP_016861151.1
    XP_016861152.1
    XP_016861153.1
    XP_016861154.1
    XP_016861155.1
    XP_024309101.1
    XP_024309102.1

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001003794.2NP_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, AW166623, BP307995, BX403703, DA240965
      Consensus CDS
      CCDS43148.1
      UniProtKB/Swiss-Prot
      Q99685
      Related
      ENSP00000381176.1, ENST00000398104.5
      Conserved Domains (1) summary
      cl21494
      Location:22294
      Abhydrolase; alpha/beta hydrolases
    2. NM_001256585.1NP_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, AW166623, BM051374, EU660904
      Consensus CDS
      CCDS58852.1
      UniProtKB/Swiss-Prot
      Q99685
      UniProtKB/TrEMBL
      B2ZGL7
      Related
      ENSP00000404146.2, ENST00000453507.6
      Conserved Domains (1) summary
      cl21494
      Location:32274
      Abhydrolase; alpha/beta hydrolases
    3. NM_007283.6NP_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, AW166623, BC006230, BM051374
      Consensus CDS
      CCDS46902.1
      UniProtKB/Swiss-Prot
      Q99685
      UniProtKB/TrEMBL
      A0A0C4DFN3
      Related
      ENSP00000265052.5, ENST00000265052.9
      Conserved Domains (1) summary
      cl21494
      Location:32304
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      127689062..127823250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005666.2XP_016861155.1  monoglyceride lipase isoform X7

      UniProtKB/TrEMBL
      B2ZGL7
      Conserved Domains (2) summary
      pfam12146
      Location:41245
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:22264
      Abhydrolase; alpha/beta hydrolases
    2. XM_011512378.2XP_011510680.1  monoglyceride lipase isoform X2

      Conserved Domains (2) summary
      pfam12146
      Location:41301
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:22320
      Abhydrolase; alpha/beta hydrolases
    3. XM_024453333.1XP_024309101.1  monoglyceride lipase isoform X6

      Conserved Domains (1) summary
      cl21494
      Location:52268
      Abhydrolase; alpha/beta hydrolases
    4. XM_011512379.2XP_011510681.1  monoglyceride lipase isoform X4

      See identical proteins and their annotated locations for XP_011510681.1

      Conserved Domains (2) summary
      pfam12146
      Location:53275
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:52294
      Abhydrolase; alpha/beta hydrolases
    5. XM_011512383.2XP_011510685.1  monoglyceride lipase isoform X9

      Conserved Domains (2) summary
      pfam12146
      Location:53219
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:52238
      Abhydrolase; alpha/beta hydrolases
    6. XM_017005664.2XP_016861153.1  monoglyceride lipase isoform X6

      UniProtKB/TrEMBL
      E7EWX8
      Conserved Domains (1) summary
      cl21494
      Location:52268
      Abhydrolase; alpha/beta hydrolases
    7. XM_011512377.2XP_011510679.1  monoglyceride lipase isoform X1

      Conserved Domains (2) summary
      pfam12146
      Location:51311
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:32330
      Abhydrolase; alpha/beta hydrolases
    8. XM_024453334.1XP_024309102.1  monoglyceride lipase isoform X10

      Related
      ENSP00000419340.1, ENST00000484451.1
      Conserved Domains (1) summary
      cl21494
      Location:2231
      Abhydrolase; alpha/beta hydrolases
    9. XM_011512382.1XP_011510684.1  monoglyceride lipase isoform X8

      Conserved Domains (2) summary
      pfam12146
      Location:2238
      Hydrolase_4; Serine aminopeptidase, S33
      cl21494
      Location:2257
      Abhydrolase; alpha/beta hydrolases
    10. XM_017005665.1XP_016861154.1  monoglyceride lipase isoform X6

      UniProtKB/TrEMBL
      E7EWX8
      Related
      ENSP00000381173.3, ENST00000398101.7
      Conserved Domains (1) summary
      cl21494
      Location:52268
      Abhydrolase; alpha/beta hydrolases
    11. XM_017005663.1XP_016861152.1  monoglyceride lipase isoform X5

    12. XM_017005662.2XP_016861151.1  monoglyceride lipase isoform X3

      Related
      ENSP00000497905.1, ENST00000648300.1
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