human-ABHD16A

 
Homo sapiens (Human) Abhydrolase domain-containing protein 16A BAT5 (HLA-B-associated transcript 5) (NG26 protein) (G5) (PP199)

Comment
Hydrolysis of medium-chain saturated (C14:0), long-chain unsaturated (C18:1, C18:2, C20:4) monoacylglycerols (MAGs) and 15-deoxy-12,14-prostaglandin J2-2-glycerol ester (15d-PGJ2-G). Only marginal diacylglycerol (DAG), triacylglycerol (TAG), or lysophospholipase activity. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies (Lemire et al. 2021; Yahia et al. 2021; Miyake 2021)


Relationship
Family ABHD16
Block X
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
9 mutations: Table (ordered Natural and SD mutagenesis) (e.g. : Q279X_human-ABHD16A, R114X_human-ABHD16A, R457Q_human-ABHD16A ... more)
No structure
No kinetic
Disease: Hereditary spastic paraplegia (HSP) ABHD16A -

Inhibitor: KC01 , Palmostatin-B , Orlistat ,
>3 Genbank links 16 more: AF129756, AP000504, AF193047
3 UniProt : O95870, B3KNX9, A8K0A4
>3 UniProtTrembl links 4 more: O95870, B3KNX9, A8K0A4
>3 Interpro links 4 more: O95870, B3KNX9, A8K0A4
>3 Prodom links 4 more: O95870, B3KNX9, A8K0A4
>3 Pfam links 4 more: O95870, B3KNX9, A8K0A4
>3 PIRSF links 4 more: O95870, B3KNX9, A8K0A4
>3 SUPERFAM links 4 more: O95870, B3KNX9, A8K0A4
>3 QuickSwissBlast links 4 more: O95870, B3KNX9, A8K0A4
1 EntrezGene : 7920
1 SNP : 7920
1 UniGene : 388188
1 HUGO HGNC : 13921
1 OMIM : 142620
1 Ensembl : ENSG00000096467
 
Sequence
Graphical view for this peptide sequence: human-ABHD16A
Colored MSA for ABHD16 (raw)
MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQP
RALEKHADSILALASVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYA
GTLLLLLAGVACLRGIGRWTNPQYRQFITILEATHRNQSSENKRQLANYN
FDFRSWPVDFHWEEPSSRKESRGGPSRRGVALLRPEPLHRGTADTLLNRV
KKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQGQARLVEECNG
RRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTP
LEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVVVQFAIHRLGFQPQDII
IYAWSIGGFTATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVT
RTVRQHLNLNNAEQLCRYQGPVLLIRRTKDEIITTTVPEDIMSNRGNDLL
LKLLQHRYPRVMAEEGLRVVRQWLEASSQLEEASIYSRWEVEEDWCLSVL
RSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFEATHCTPLPAQ
NFQMPWHL
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

MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQP
RALEKHADSILALASVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYA
GTLLLLLAGVACLRGIGRWTNPQYRQFITILEATHRNQSSENKRQLANYN
FDFRSWPVDFHWEEPSSRKESRGGPSRRGVALLRPEPLHRGTADTLLNRV
KKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQGQARLVEECNG
RRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTP
LEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVVVQFAIHRLGFQPQDII
IYAWSIGGFTATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVT
RTVRQHLNLNNAEQLCRYQGPVLLIRRTKDEIITTTVPEDIMSNRGNDLL
LKLLQHRYPRVMAEEGLRVVRQWLEASSQLEEASIYSRWEVEEDWCLSVL
RSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFEATHCTPLPAQ
NFQMPWHL

no DNA




References
9 more
    Title: ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
    Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T and Boycott KM <13 more author(s)>
    Ref: American Journal of Human Genetics, :, 2021 : PubMed

            

    Title: A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
    Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A and Matsumoto N <1 more author(s)>
    Ref: Clin Genet, :, 2021 : PubMed

            

    Title: Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
    Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N and Stevanin G <19 more author(s)>
    Ref: Front Neurol, 12:720201, 2021 : PubMed

            


Other Papers


Send your questions or comments to :
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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