DAGLB diacylglycerol lipase beta [Homo sapiens (human)] - Gene

Summary

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, Dec 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

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_000007.14 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Phenotypes

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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 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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32489 (e-PCR)
- UniSTS:117074

D1S1425 (e-PCR)
- UniSTS:149621

GDB:4585605 (e-PCR)
- UniSTS:35530

A009E42 (e-PCR)
- UniSTS:17632

GDB:4585739 (e-PCR)
- UniSTS:20706

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 more info	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

EC 3.1.1.116

EC 3.1.1.3

NP_631918.3

EC 3.1.1.116

EC 3.1.1.3

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)

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 ...
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 ...