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DAGLB diacylglycerol lipase beta [ Homo sapiens (human) ]

Gene ID: 221955, updated on 7-Apr-2024

Summary

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Official Symbol
DAGLBprovided by HGNC
Official Full Name
diacylglycerol lipase betaprovided by HGNC
Primary source
HGNC:HGNC:28923
See related
Ensembl:ENSG00000164535 MIM:614016; AllianceGenome:HGNC:28923
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KCCR13L; DAGLBETA
Summary
Enables lipase activity. Involved in arachidonic acid metabolic process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 8.1), brain (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p22.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6409129..6447954, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6528530..6567278, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6448760..6487585, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6407719-6408220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6408221-6408720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17941 Neighboring gene ribosomal protein SA pseudogene 73 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17942 Neighboring gene Rac family small GTPase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6449304-6449840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6454955-6455531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6464151-6464650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25623 Neighboring gene MPRA-validated peak6358 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25624 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17945 Neighboring gene ribosomal protein L31 pseudogene 34

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study. Zhou D, et al. Eur J Hum Genet, 2018 Jun. PMID 29476167, Free PMC Article
  2. Assay and Inhibition of the Purified Catalytic Domain of Diacylglycerol Lipase Beta. Singh PK, et al. Biochemistry, 2016 May 17. PMID 27115711
  3. DAGL-Beta Functions as a PUFA-Specific Triacylglycerol Lipase in Macrophages. Shin M, et al. Cell Chem Biol, 2020 Mar 19. PMID 31991095, Free PMC Article
  4. Cloning of the first sn1-DAG lipases points to the spatial and temporal regulation of endocannabinoid signaling in the brain. Bisogno T, et al. J Cell Biol, 2003 Nov 10. PMID 14610053, Free PMC Article
  5. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Lanfranchi G, et al. Genome Res, 1996 Jan. PMID 8681137

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. we identified a novel HDL-C-associated variant which explained nearly half of the expression variance of DAGLB.
    Title: A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study.
  2. The purified DAGLbeta catalytic domain assay described here provides the basis for a relatively clean and convenient assay with the potential to be adapted for high-throughput drug discovery efforts.
    Title: Assay and Inhibition of the Purified Catalytic Domain of Diacylglycerol Lipase Beta.
  3. This gene has been functionally characterized as a diacylglycerol-lipase (DAGL), referred to as DAGL beta. These enzymes may have a role in the biosynthesis of the endocannabinoid 2-arachidnoyl glycerol (2-AG).
    Title: Cloning of the first sn1-DAG lipases points to the spatial and temporal regulation of endocannabinoid signaling in the brain.
Submit: New GeneRIF Correction

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
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with diacylglycerol lipase, beta (DAGLB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: KDELR2

Homology

Clone Names

  • FLJ33624, FLJ33909, FLJ45532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acylglycerol lipase activity TAS
Traceable Author Statement
more info
  
enables lipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables triglyceride lipase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
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 monoacylglycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of triglyceride catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in prostaglandin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in lysosomal membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
diacylglycerol lipase-beta
Names
DAGL-beta
DGL-beta
PUFA-specific triacylglycerol lipase
sn1-specific diacylglycerol lipase beta
NP_001136408.1
NP_631918.3

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)

  1. NM_001142936.2 → NP_001136408.1  diacylglycerol lipase-beta isoform 2

    See identical proteins and their annotated locations for NP_001136408.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate internal exons, compared to variant 1, resulting in a translational frameshift in the mid coding region. The encoded isoform (2) has the same N- and C-termini but is shorter than isoform 1.
    Source sequence(s)
    AK075128, AK298955, DC304654, F17444
    Consensus CDS
    CCDS47536.1
    UniProtKB/Swiss-Prot
    Q8NCG7
    Related
    ENSP00000391171.2, ENST00000425398.6
    Conserved Domains (1) summary
    cd00519
    Location:214 → 378
    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 ...

  2. NM_139179.4 → NP_631918.3  diacylglycerol lipase-beta isoform 1

    See identical proteins and their annotated locations for NP_631918.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK075128, DC304654, F17444
    Consensus CDS
    CCDS5350.1
    UniProtKB/Swiss-Prot
    A4D2P3, B3KV90, B4DQU0, Q6PIX3, Q8N2N2, Q8N9S1, Q8NCG7, Q8TED3, Q8WXE6
    UniProtKB/TrEMBL
    E7ET49
    Related
    ENSP00000297056.6, ENST00000297056.11
    Conserved Domains (1) summary
    cd00519
    Location:274 → 507
    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 ...

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

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    6409129..6447954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    6528530..6567278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NCG7.2 GenPept UniProtKB/Swiss-Prot:Q8NCG7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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