DAGLA diacylglycerol lipase alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAGLAprovided by HGNC
Official Full Name: diacylglycerol lipase alphaprovided by HGNC
Primary source: HGNC:HGNC:1165
See related: Ensembl:ENSG00000134780 MIM:614015; AllianceGenome:HGNC:1165
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: NSDDR; C11orf11; DAGLALPHA; DAGL(ALPHA)
Summary: This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
Expression: Broad expression in brain (RPKM 6.7), colon (RPKM 2.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61680391..61747001)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61669309..61735921)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61447863..61514473)

Chromosome 11 - NC_000011.10 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?

Diacylglycerol lipase alpha promotes hepatocellular carcinoma progression and induces lenvatinib resistance by enhancing YAP activity.
Title: Diacylglycerol lipase alpha promotes hepatocellular carcinoma progression and induces lenvatinib resistance by enhancing YAP activity.
Our findings indicated the involvement of DAGLA in alcoholism, possibly by its genetic dysfunction and also by the influence of stress
Title: Association between alcoholism and the gene encoding the endocannabinoid synthesizing enzyme diacylglycerol lipase alpha in the Japanese population.
Overexpression of DAGLA in human oral squamous cell carcinomas cells controlled cell proliferation through cell-cycle progression.
Title: Diacylglycerol lipase alpha promotes tumorigenesis in oral cancer by cell-cycle progression.
phenotypes associated with rare CNR1 variants are reminiscent of those implicated in the theory of clinical endocannabinoid deficiency syndrome. The severe phenotypes associated with rare DAGLA variants underscore the critical role of rapid 2-AG synthesis and the endocannabinoid system in regulating neurological function and development
Title: Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.
In subcutaneous adipose tissue, DAGL-a mRNA was upregulated and fatty acid amide hydrolase (FAAH) and monoacylglycerol lipase (MAGL) mRNAs were down-regulated in obese subjects, but the diets had no influence.
Title: Influence of dietary fat intake on the endocannabinoid system in lean and obese subjects.
PLC-beta1 and DAGL-alpha are detected in discrete brain regions, with a marked predominance of pyramidal morphologies of positive cortical cells.[review]
Title: Nuclear phospholipase C-β1 and diacylglycerol LIPASE-α in brain cortical neurons.
DAGLalpha mRNA expression is lowest in early life and adulthood, peaking between school age and young adulthood.
Title: Developmental trajectory of the endocannabinoid system in human dorsolateral prefrontal cortex.
This gene was functionally characterized as a diacylglycerol-lipase (DAGL), specifically referred to as DAGL alpha. This enzyme may play a role in the biosynthesis of the endocannbinoid 2-arachidonoylglycerol (2-AG).
Title: Cloning of the first sn1-DAG lipases points to the spatial and temporal regulation of endocannabinoid signaling in the brain.

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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
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol lipase activity	TAS Traceable Author Statement more info
enables lipoprotein lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled glutamate receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in arachidonic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in arachidonic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in arachidonic acid metabolic process	TAS Traceable Author Statement more info
involved_in cannabinoid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in diacylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in diacylglycerol catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoacylglycerol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuroinflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde trans-synaptic signaling by endocannabinoid	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde trans-synaptic signaling by endocannabinoid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde trans-synaptic signaling by endocannabinoid	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite membrane	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in varicosity	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: diacylglycerol lipase-alpha

Names: DAGL-alpha; DGL-alpha; neural stem cell-derived dendrite regulator; sn1-specific diacylglycerol lipase alpha

NP_006124.1

EC 3.1.1.116

XP_047283496.1

EC 3.1.1.116

XP_047283497.1

EC 3.1.1.116

XP_047283498.1

EC 3.1.1.116

XP_047283499.1

EC 3.1.1.116

XP_047283500.1

EC 3.1.1.116

XP_047283501.1

EC 3.1.1.116

XP_054225827.1

EC 3.1.1.116

XP_054225828.1

EC 3.1.1.116

XP_054225829.1

EC 3.1.1.116

XP_054225830.1

EC 3.1.1.116

XP_054225831.1

EC 3.1.1.116

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_006133.3 → NP_006124.1 diacylglycerol lipase-alpha

See identical proteins and their annotated locations for NP_006124.1

Status: REVIEWED

Source sequence(s)

AP002380, BC150176

Consensus CDS

CCDS31578.1

UniProtKB/Swiss-Prot

A0A024R517, A7E233, Q6WQJ0, Q9Y4D2

Related

ENSP00000257215.5, ENST00000257215.10

Conserved Domains (1) summary

cd00519
Location:288 → 529

Lipase_3; Lipase (class 3). Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the process of ...