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 Prodom : 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 UniGene : 241564
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
18 more
    Title: Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)
    Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A and Friedman J <24 more author(s)>
    Ref: Brain, :, 2022 : PubMed

            

    Title: Acute inhibition of diacylglycerol lipase blocks endocannabinoid-mediated retrograde signalling: evidence for on-demand biosynthesis of 2-arachidonoylglycerol
    Hashimotodani Y, Ohno-Shosaku T, Tanimura A, Kita Y, Sano Y, Shimizu T, Di Marzo V, Kano M
    Ref: The Journal of Physiology, 591:4765, 2013 : PubMed

            

    Title: 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
    Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O
    Ref: DNA Research, 5:169, 1998 : PubMed

            


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