Gene_Locus Report

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Gene_locus Report for: human-DAGLA

Homo sapiens (Human) DAGLA Sn1-specific diacylglycerol lipase alpha DGL-alpha, neural stem cell-derived dendrite regulator KIAA0659

Comment
DAGLA is a diacylglycerol (DAG) lipase (EC 3.1.1.34) that catalyzes the hydrolysis of DAG to 2-arachidonoyl-glycerol, the most abundant endocannabinoid in tissues. The endocannabinoid 2-arachidonoylglycerol produced by diacylglycerol lipase alpha mediates retrograde suppression of synaptic transmission. Only central part Pfam A Lipase_3 394 534. Autoantibodies to DAGLA were detected in the sera of 17 patients with cerebellitis, epilepsy and hippocampal sclerosis, or brain stem encephalitis. A duplication of 20 genes, including DAGLA, resulted in adult onset spinocerebellar ataxia (Knight et al. 2004 2008)


Relationship
Family|Lipase_3
Block| L
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
7 mutations: Table (e.g. : E814X_human-DAGLA, E829RfsX6_human-DAGLA, E829X_human-DAGLA ... more)
No structure
No kinetic

Disease: Neuro-ocular DAGLA-related syndrome -



4 substrates (e.g. : 1-Oleoyl-2-arachidonoyl-sn-glycerol, 1-Stearoyl-2-arachidonoylglycerol, DiFMU-octanoate... more)
12 inhibitors (e.g. : Compound-9368, DH376, DO34... more)
2 Genbank : AB014559, AY275377
2 UniProt : Q9Y4D2, F5GY58
3 UniProt : Q9Y4D2, A0A024R517, F5GY58
3 Interpro : Q9Y4D2, A0A024R517, F5GY58
3 Pfam : Q9Y4D2, A0A024R517, F5GY58
3 PIRSF : Q9Y4D2, A0A024R517, F5GY58
3 SUPERFAM : Q9Y4D2, A0A024R517, F5GY58
1 EntrezGene : 747
1 SNP : 747
1 HUGO HGNC : 1165
1 IUPHAR : 1396
2 OMIM : 608687, 614015
1 Ensembl : ENSG00000134780
Sequence
Graphical view for this peptide sequence: human-DAGLA
Colored MSA for Lipase_3 (raw)
MPGIVVFRRRWSVGSDDLVLPAIFLFLLHTTWFVILSVVLFGLVYNPHEA
CSLNLVDHGRGYLGILLSCMIAEMAIIWLSMRGGILYTEPRDSMQYVLYV
RLAILVIEFIYAIVGIVWLTQYYTSCNDLTAKNVTLGMVVCNWVVILSVC
ITVLCVFDPTGRTFVKLRATKRRQRNLRTYNLRHRLEEGQATSWSRRLKV
FLCCTRTKDSQSDAYSEIAYLFAEFFRDLDIVPSDIIAGLVLLRQRQRAK
RNAVLDEANNDILAFLSGMPVTRNTKYLDLKNSQEMLRYKEVCYYMLFAL
AAYGWPMYLMRKPACGLCQLARSCSCCLCPARPRFAPGVTIEEDNCCGCN
AIAIRRHFLDENMTAVDIVYTSCHDAVYETPFYVAVDHDKKKVVISIRGT
LSPKDALTDLTGDAERLPVEGHHGTWLGHKGMVLSAEYIKKKLEQEMVLS
QAFGRDLGRGTKHYGLIVVGHSLGAGTAAILSFLLRPQYPTLKCFAYSPP
GGLLSEDAMEYSKEFVTAVVLGKDLVPRIGLSQLEGFRRQLLDVLQRSTK
PKWRIIVGATKCIPKSELPEEVEVTTLASTRLWTHPSDLTIALSASTPLY
PPGRIIHVVHNHPAEQCCCCEQEEPTYFAIWGDNKAFNEVIISPAMLHEH
LPYVVMEGLNKVLENYNKGKTALLSAAKVMVSPTEV
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MPGIVVFRRRWSVGSDDLVLPAIFLFLLHTTWFVILSVVLFGLVYNPHEA
CSLNLVDHGRGYLGILLSCMIAEMAIIWLSMRGGILYTEPRDSMQYVLYV
RLAILVIEFIYAIVGIVWLTQYYTSCNDLTAKNVTLGMVVCNWVVILSVC
ITVLCVFDPTGRTFVKLRATKRRQRNLRTYNLRHRLEEGQATSWSRRLKV
FLCCTRTKDSQSDAYSEIAYLFAEFFRDLDIVPSDIIAGLVLLRQRQRAK
RNAVLDEANNDILAFLSGMPVTRNTKYLDLKNSQEMLRYKEVCYYMLFAL
AAYGWPMYLMRKPACGLCQLARSCSCCLCPARPRFAPGVTIEEDNCCGCN
AIAIRRHFLDENMTAVDIVYTSCHDAVYETPFYVAVDHDKKKVVISIRGT
LSPKDALTDLTGDAERLPVEGHHGTWLGHKGMVLSAEYIKKKLEQEMVLS
QAFGRDLGRGTKHYGLIVVGHSLGAGTAAILSFLLRPQYPTLKCFAYSPP
GGLLSEDAMEYSKEFVTAVVLGKDLVPRIGLSQLEGFRRQLLDVLQRSTK
PKWRIIVGATKCIPKSELPEEVEVTTLASTRLWTHPSDLTIALSASTPLY
PPGRIIHVVHNHPAEQCCCCEQEEPTYFAIWGDNKAFNEVIISPAMLHEH
LPYVVMEGLNKVLENYNKGKTALLSAAKVMVSPTEV


References
22 more
    Title: Endocannabinoid 2-Arachidonoylglycerol Synthesis and Metabolism at Neuronal Nuclear Matrix Fractions Derived from Adult Rat Brain Cortex
    Aretxabala X, Garcia Del Cano G, Barrondo S, Lopez De Jesus M, Gonzalez-Burguera I, Saumell-Esnaola M, Goicolea MA, Salles J
    Ref: Int J Mol Sci, 24:, 2023 : PubMed

            

    Title: Inhibition of diacylglycerol lipase beta modulates lipid and endocannabinoid levels in the ex vivo human placenta
    Berger N, van der Wel T, Hirschmugl B, Baernthaler T, Gindlhuber J, Fawzy N, Eichmann T, Birner-Gruenberger R, Zimmermann R and Wadsack C <1 more author(s)>
    Ref: Front Endocrinol (Lausanne), 14:1092024, 2023 : PubMed

            

    Title: Diacylglycerol lipase alpha promotes hepatocellular carcinoma progression and induces lenvatinib resistance by enhancing YAP activity
    Yan YC, Meng GX, Yang CC, Yang YF, Tan SY, Yan LJ, Ding ZN, Ma YL, Dong ZR, Li T
    Ref: Cell Death Dis, 14:404, 2023 : PubMed

            


Other Papers


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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