human-DAGLB

 
Homo sapiens (Human) DAGLB Sn1-specific diacylglycerol lipase beta kccr13l FLJ36639

Comment
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.DAGLB hydrolyses diacyglycerols preferencially on the sn-1 position. Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction. (Liu et al.)


Relationship
Family Lipase_3
Block L
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> 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
4 mutations: Table (ordered Natural and SD mutagenesis) (e.g. : c.1821-2A>G_human-DAGLB, D363G_human-DAGLB, L158SfsX17_human-DAGLB ... more)
No structure
No kinetic
Disease: Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD) -
Substrate: 1-Stearoyl-2-arachidonoylglycerol ,
Inhibitor: DH376 , HT-01 , L-Isoleucine-Orlistat , O-3841 , DO34 , Rhc80267 , Orlistat ,
>3 Genbank links 8 more: BC027603, AF450090, AK093958
>3 UniProt links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 UniProtTrembl links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 Interpro links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 Prodom links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 Pfam links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 PIRSF links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 SUPERFAM links 3 more: Q8NCG7, B4DVJ1, B3KR38
>3 QuickSwissBlast links 3 more: Q8NCG7, B4DVJ1, B3KR38
1 EntrezGene : 221955
1 SNP : 221955
1 UniGene : 487498
1 HUGO HGNC : 28923
1 IUPHAR : 1397
1 OMIM : 614016
1 Ensembl : ENSG00000164535
 
Sequence
Graphical view for this peptide sequence: human-DAGLB
Colored MSA for Lipase_3 (raw)
MPGMVLFGRRWAIASDDLVFPGFFELVVRVLWWIGILTLYLMHRGKLDCA
GGALLSSYLIVLMILLAVVICTVSAIMCVSMRGTICNPGPRKSMSKLLYI
RLALFFPEMVWASLGAAWVADGVQCDRTVVNGIIATVVVSWIIIAATVVS
IIIVFDPLGGKMAPYSSAGPSHLDSHDSSQLLNGLKTAATSVWETRIKLL
CCCIGKDDHTRVAFSSTAELFSTYFSDTDLVPSDIAAGLALLHQQQDNIR
NNQEPAQVVCHAPGSSQEADLDAELENCHHYMQFAAAAYGWPLYIYRNPL
TGLCRIGGDCCRSRTTDYDLVGGDQLNCHFGSILHTTGLQYRDFIHVSFH
DKVYELPFLVALDHRKESVVVAVRGTMSLQDVLTDLSAESEVLDVECEVQ
DRLAHKGISQAARYVYQRLINDGILSQAFSIAPEYRLVIVGHSLGGGAAA
LLATMLRAAYPQVRCYAFSPPRGLWSKALQEYSQSFIVSLVLGKDVIPRL
SVTNLEDLKRRILRVVAHCNKPKYKILLHGLWYELFGGNPNNLPTELDGG
DQEVLTQPLLGEQSLLTRWSPAYSFSSDSPLDSSPKYPPLYPPGRIIHLQ
EEGASGRFGCCSAAHYSAKWSHEAEFSKILIGPKMLTDHMPDILMRALDS
VVSDRAACVSCPAQGVSSVDVA
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

MPGMVLFGRRWAIASDDLVFPGFFELVVRVLWWIGILTLYLMHRGKLDCA
GGALLSSYLIVLMILLAVVICTVSAIMCVSMRGTICNPGPRKSMSKLLYI
RLALFFPEMVWASLGAAWVADGVQCDRTVVNGIIATVVVSWIIIAATVVS
IIIVFDPLGGKMAPYSSAGPSHLDSHDSSQLLNGLKTAATSVWETRIKLL
CCCIGKDDHTRVAFSSTAELFSTYFSDTDLVPSDIAAGLALLHQQQDNIR
NNQEPAQVVCHAPGSSQEADLDAELENCHHYMQFAAAAYGWPLYIYRNPL
TGLCRIGGDCCRSRTTDYDLVGGDQLNCHFGSILHTTGLQYRDFIHVSFH
DKVYELPFLVALDHRKESVVVAVRGTMSLQDVLTDLSAESEVLDVECEVQ
DRLAHKGISQAARYVYQRLINDGILSQAFSIAPEYRLVIVGHSLGGGAAA
LLATMLRAAYPQVRCYAFSPPRGLWSKALQEYSQSFIVSLVLGKDVIPRL
SVTNLEDLKRRILRVVAHCNKPKYKILLHGLWYELFGGNPNNLPTELDGG
DQEVLTQPLLGEQSLLTRWSPAYSFSSDSPLDSSPKYPPLYPPGRIIHLQ
EEGASGRFGCCSAAHYSAKWSHEAEFSKILIGPKMLTDHMPDILMRALDS
VVSDRAACVSCPAQGVSSVDVA

no DNA




References
11 more
    Title: Inhibition of DAGLbeta as a therapeutic target for pain in sickle cell disease
    Khasabova IA, Gable J, Johns M, Khasabov SG, Kalyuzhny AE, Golovko MY, Golovko SA, Kiven S, Gupta K and Simone DA <1 more author(s)>
    Ref: Haematologica, :, 2022 : PubMed

            

    Title: Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction
    Liu Z, Yang N, Dong J, Tian W, Chang L, Ma J, Guo J, Tan J, Dong A and Tang B <27 more author(s)>
    Ref: Nat Commun, 13:3490, 2022 : PubMed

            

    Title: Complete sequencing and characterization of 21,243 full-length human cDNAs
    Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H and Sugano S <144 more author(s)>
    Ref: Nat Genet, 36:40, 2004 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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