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Aliases for DAGLA Gene

Aliases for DAGLA Gene

  • Diacylglycerol Lipase Alpha 2 3 5
  • Neural Stem Cell-Derived Dendrite Regulator 2 3 4
  • DGL-Alpha 3 4
  • C11orf11 3 4
  • NSDDR 3 4
  • Sn1-Specific Diacylglycerol Lipase Alpha 3
  • Chromosome 11 Open Reading Frame 11 2
  • Diacylglycerol Lipase, Alpha 2
  • DAGL(ALPHA) 3
  • EC 3.1.1.- 4
  • DAGLALPHA 3
  • KIAA0659 4

External Ids for DAGLA Gene

Previous HGNC Symbols for DAGLA Gene

  • C11orf11

Previous GeneCards Identifiers for DAGLA Gene

  • GC11P061205
  • GC11P061447
  • GC11P057776

Summaries for DAGLA Gene

Entrez Gene Summary for DAGLA Gene

  • 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]

GeneCards Summary for DAGLA Gene

DAGLA (Diacylglycerol Lipase Alpha) is a Protein Coding gene. Diseases associated with DAGLA include Spinocerebellar Ataxia 20 and Spasmodic Dysphonia. Among its related pathways are Effects of PIP2 hydrolysis and RET signaling. GO annotations related to this gene include hydrolase activity and lipase activity. An important paralog of this gene is DAGLB.

UniProtKB/Swiss-Prot for DAGLA Gene

  • Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAGLA Gene

Genomics for DAGLA Gene

Regulatory Elements for DAGLA Gene

Enhancers for DAGLA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G061693 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +17.5 17492 8.5 PKNOX1 SIN3A ZBTB7B FOS DEK ZNF263 ZHX2 REST SMARCB1 ZNF592 MYRF DKFZP434K028 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 CPSF7
GH11G061679 1.1 FANTOM5 Ensembl ENCODE 21.3 -1.0 -1033 0.4 HDGF MAZ SMC3 SIN3A ZNF600 PRDM10 ZIC2 DAGLA FTH1 CPSF7 SDHAF2 CYB561A3 GC11M061648
GH11G061731 1.2 Ensembl ENCODE 16.9 +52.5 52536 2.1 PKNOX1 ATF1 ARNT ARID4B SIN3A BRCA1 ZNF48 ZNF143 DEK MXD4 DAGLA MYRF DKFZP434K028 MIR611 TMEM258 FEN1 SYT7 PIR41833
GH11G061625 1.1 Ensembl ENCODE 17.3 -53.0 -53026 3.7 ATF1 ARID4B SIN3A ZNF48 RAD21 ELK1 ZSCAN5C ZNF143 ZNF654 ZNF680 DAGLA SYT7 MYRF DKFZP434K028 GC11P061636 RPLP0P2
GH11G061688 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +8.5 8533 1.3 TBP MXI1 MAX USF2 CEBPB ZNF623 ZFHX2 POLR2A RCOR1 FOXP2 DAGLA FTH1 CYB561A3 CPSF7 SDHAF2 PIR41833
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DAGLA on UCSC Golden Path with GeneCards custom track

Promoters for DAGLA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040315 -33 801 AGO1 ARID4B SIN3A ZNF48 ZNF207 ZNF143 TAF15 MXD4 GTF2B REST

Genomic Location for DAGLA Gene

Chromosome:
11
Start:
61,680,433 bp from pter
End:
61,747,002 bp from pter
Size:
66,570 bases
Orientation:
Plus strand

Genomic View for DAGLA Gene

Genes around DAGLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAGLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAGLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAGLA Gene

Proteins for DAGLA Gene

  • Protein details for DAGLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4D2-DGLA_HUMAN
    Recommended name:
    Sn1-specific diacylglycerol lipase alpha
    Protein Accession:
    Q9Y4D2
    Secondary Accessions:
    • A7E233
    • Q6WQJ0

    Protein attributes for DAGLA Gene

    Size:
    1042 amino acids
    Molecular mass:
    114952 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31634.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DAGLA Gene

Post-translational modifications for DAGLA Gene

  • Glycosylation at Asn133
  • Modification sites at PhosphoSitePlus

Other Protein References for DAGLA Gene

No data available for DME Specific Peptides for DAGLA Gene

Domains & Families for DAGLA Gene

Gene Families for DAGLA Gene

Protein Domains for DAGLA Gene

Suggested Antigen Peptide Sequences for DAGLA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4D2

UniProtKB/Swiss-Prot:

DGLA_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with DAGLA: view

Function for DAGLA Gene

Molecular function for DAGLA Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=154.7 uM for diacylglycerol {ECO:0000269 PubMed:14610053}; Vmax=33.3 nmol/min/mg enzyme {ECO:0000269 PubMed:14610053}; pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:14610053};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by p-hydroxy-mercuri-benzoate and HgCl(2), but not to PMSF. Also inhibited by RHC80267, a drug that blocks 2-AG formation.
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses.

Enzyme Numbers (IUBMB) for DAGLA Gene

Gene Ontology (GO) - Molecular Function for DAGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0047372 acylglycerol lipase activity TAS --
genes like me logo Genes that share ontologies with DAGLA: view
genes like me logo Genes that share phenotypes with DAGLA: view

Animal Models for DAGLA Gene

MGI Knock Outs for DAGLA:

Animal Model Products

miRNA for DAGLA Gene

miRTarBase miRNAs that target DAGLA

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DAGLA

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DAGLA Gene

Localization for DAGLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAGLA Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAGLA gene
Compartment Confidence
plasma membrane 5
extracellular 2

Gene Ontology (GO) - Cellular Components for DAGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043196 varicosity IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with DAGLA: view

Pathways & Interactions for DAGLA Gene

genes like me logo Genes that share pathways with DAGLA: view

Interacting Proteins for DAGLA Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000257215%0d%0a9606.ENSP00000297056%0d%0a9606.ENSP00000304843%0d%0a
Selected Interacting proteins: ENSP00000257215 Q9Y4D2-DGLA_HUMAN for DAGLA Gene via STRING IID

Gene Ontology (GO) - Biological Process for DAGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007216 G-protein coupled glutamate receptor signaling pathway IEA --
GO:0007405 neuroblast proliferation IEA --
GO:0016042 lipid catabolic process IEA --
GO:0019369 arachidonic acid metabolic process IDA 14610053
genes like me logo Genes that share ontologies with DAGLA: view

No data available for SIGNOR curated interactions for DAGLA Gene

Drugs & Compounds for DAGLA Gene

(4) Drugs for DAGLA Gene - From: ApexBio, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orlistat Approved, Investigational Pharma inhibitor Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 52
RHC80267 Pharma Inhibition, Inhibitor 0
RHC 80267 Pharma diacylglycerol lipase inhibitor, Diacylglycerol lipase inhibitor 0
calcium Nutra 0

(5) Additional Compounds for DAGLA Gene - From: IUPHAR and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
tetrahydrolipstatin
Inhibition, Inhibitor
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(1) ApexBio Compounds for DAGLA Gene

Compound Action Cas Number
RHC 80267 diacylglycerol lipase inhibitor 83654-05-1
genes like me logo Genes that share compounds with DAGLA: view

Drug Products

Transcripts for DAGLA Gene

Unigene Clusters for DAGLA Gene

Diacylglycerol lipase, alpha:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DAGLA

Alternative Splicing Database (ASD) splice patterns (SP) for DAGLA Gene

No ASD Table

Relevant External Links for DAGLA Gene

GeneLoc Exon Structure for
DAGLA
ECgene alternative splicing isoforms for
DAGLA

Expression for DAGLA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DAGLA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DAGLA Gene

This gene is overexpressed in Brain - Cortex (x5.3) and Brain - Frontal Cortex (BA9) (x4.3).

Protein differential expression in normal tissues from HIPED for DAGLA Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DAGLA Gene



Protein tissue co-expression partners for DAGLA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DAGLA Gene:

DAGLA

SOURCE GeneReport for Unigene cluster for DAGLA Gene:

Hs.241564

mRNA Expression by UniProt/SwissProt for DAGLA Gene:

Q9Y4D2-DGLA_HUMAN
Tissue specificity: Highly expressed in brain and pancreas.

Evidence on tissue expression from TISSUES for DAGLA Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DAGLA: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DAGLA Gene

Orthologs for DAGLA Gene

This gene was present in the common ancestor of animals.

Orthologs for DAGLA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAGLA 34 35
  • 98.95 (n)
cow
(Bos Taurus)
Mammalia DAGLA 34 35
  • 91.89 (n)
dog
(Canis familiaris)
Mammalia DAGLA 34 35
  • 91.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DAGLA 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dagla 34 16 35
  • 89.41 (n)
rat
(Rattus norvegicus)
Mammalia Dagla 34
  • 89.35 (n)
chicken
(Gallus gallus)
Aves DAGLA 34 35
  • 79.79 (n)
lizard
(Anolis carolinensis)
Reptilia DAGLA 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dagla 34
  • 75.12 (n)
zebrafish
(Danio rerio)
Actinopterygii dagla 34 35
  • 67.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta inaE 35
  • 22 (a)
OneToOne
Species where no ortholog for DAGLA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DAGLA Gene

ENSEMBL:
Gene Tree for DAGLA (if available)
TreeFam:
Gene Tree for DAGLA (if available)

Paralogs for DAGLA Gene

Paralogs for DAGLA Gene

(1) SIMAP similar genes for DAGLA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DAGLA: view

Variants for DAGLA Gene

Sequence variations from dbSNP and Humsavar for DAGLA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000064551 -- 61,718,825(+) GGGCG(A/G)ACATG intron-variant, utr-variant-5-prime
rs1000095021 -- 61,719,087(+) AGAGC(C/T)ACCCT intron-variant
rs1000143860 -- 61,678,316(+) CACAT(A/G)TGTGC upstream-variant-2KB
rs1000164248 -- 61,732,346(+) CTGAT(C/G)AGAGA intron-variant
rs1000202489 -- 61,746,776(+) TGGGC(A/G)ACTCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DAGLA Gene

Variant ID Type Subtype PubMed ID
esv1003572 CNV deletion 20482838
nsv528697 CNV loss 19592680
nsv832179 CNV loss 17160897
nsv952459 CNV deletion 24416366

Variation tolerance for DAGLA Gene

Residual Variation Intolerance Score: 2.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DAGLA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAGLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAGLA Gene

Disorders for DAGLA Gene

MalaCards: The human disease database

(2) MalaCards diseases for DAGLA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 20
  • spinocerebellar ataxia type 20
spasmodic dysphonia
  • laryngeal dystonia
- elite association - COSMIC cancer census association via MalaCards
Search DAGLA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DGLA_HUMAN
  • Spinocerebellar ataxia 20 (SCA20) [MIM:608687]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. {ECO:0000269 PubMed:18801880}. Note=The disease may be caused by mutations affecting the gene represented in this entry. A copy number variation consisting of a 260-kb duplication at chromosome 11q12.2-12.3 is responsible for SCA20. The critical gene within the duplicated segment may be DAGLA.

Relevant External Links for DAGLA

Genetic Association Database (GAD)
DAGLA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DAGLA
genes like me logo Genes that share disorders with DAGLA: view

No data available for Genatlas for DAGLA Gene

Publications for DAGLA Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PMID: 21829377) Lemaitre R.N. … Steffen L.M. (PLoS Genet. 2011) 3 46 64
  3. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. (PMID: 18801880) Knight M.A. … Singleton A.B. (Hum. Mol. Genet. 2008) 3 4 64
  4. Stimulation of endocannabinoid formation in brain slice cultures through activation of group I metabotropic glutamate receptors. (PMID: 16051747) Jung K.-M. … Piomelli D. (Mol. Pharmacol. 2005) 3 4 64
  5. Cloning of the first sn1-DAG lipases points to the spatial and temporal regulation of endocannabinoid signaling in the brain. (PMID: 14610053) Bisogno T. … Doherty P. (J. Cell Biol. 2003) 3 4 64

Products for DAGLA Gene

  • Addgene plasmids for DAGLA

Sources for DAGLA Gene