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Family Report for: Maspardin-ACP33-SPG21_like


Block X
Parent Family : Abhydrolase_6

ACP33 binds the intracellular domain of CD4. Mutation S109A abolishes the interraction. S109 is in similar position as active site serine of a/b hydrolase. Maspardin-ACP33-SPG21 gene is mutated in Mast Syndrome (Cross and McKusick 1967, Simpson et al 2003), a Complicated Form of hereditary spastic paraplegia associated with dementia. Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967). Maspardin is conserved in metazoans but independent losses of this gene occured in two relatively distant ecdysozoan taxa: dipterans and nematodes (Chertemps et al.). Extracellular vesicles from Echinococcus granulosus (Platyhelminthe-Cestode) larval stage contain an orthologue of maspardin (Nicolao 2019). A Novel alpha/beta-hydrolase gene IbMa, homologous to maspardin, enhances salt tolerance in transgenic Sweetpotato (Liu et al. 2014) OsMas1 in rice (Wang et al. 2022)
1 Disease(s)
Mast Syndrome from mutation A108P_human-SPG21 in gene_locus human-SPG21.

IPR000073 (Alpha/beta hydrolase fold-1), IPR026151 (Maspardin)
PF12697 (Abhydrolase_6)
no EC number

Peptide in
Nucleotide in
Alignment with Multalin
|Text only/graphic display
Seed alignment with MAFFT
|No colour/coloured with Mview
Alignment with MAFFT
|No colour/coloured with Mview
|Graphical display, obtained with the dnd file produced by Clustalw

11 more
    Title: OsMas1, a novel maspardin protein gene, confers the tolerance to salt and drought stresses by regulating ABA signaling in rice
    Wang FB, Wan CZ, Niu HF, Qi MY, Li G, Zhang F, Hu LB, Ye YX, Wang ZX and Yuan CY <2 more author(s)>
    Ref: J.Integr.Agric, :, 2022 : PubMed


    Title: A Novel alpha/beta-Hydrolase Gene IbMas Enhances Salt Tolerance in Transgenic Sweetpotato
    Liu D, Wang L, Zhai H, Song X, He S, Liu Q
    Ref: PLoS ONE, 9:e115128, 2014 : PubMed


    Title: The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances
    Cross HE, McKusick VA
    Ref: Archives of Neurology, 16:1, 1967 : PubMed


Other Papers

No structure scheme yet for this family

No Structure yet in this family

Genes Proteins in Maspardin-ACP33-SPG21_like family (150)

Fragments of genes in Maspardin-ACP33-SPG21_like family (25)

No Substrate

No Inhibitor

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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