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    DAGLB diacylglycerol lipase beta [ Homo sapiens (human) ]

    Gene ID: 221955, updated on 27-Nov-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 arachidonate metabolic process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.1), brain (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAGLB in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6409129..6447954, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6528530..6567278, complement)
    RS_2024_09 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. Assay and Inhibition of the Purified Catalytic Domain of Diacylglycerol Lipase Beta. Singh PK, et al. Biochemistry, 2016 May 17. PMID 27115711
    2. 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
    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 (30) 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)

    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 lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monoacylglycerol lipase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables triacylglycerol lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in arachidonate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in arachidonate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in arachidonate 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_2024_08

    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.

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