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Family Report for: Maspardin-ACP33-SPG21_like


Maspardin-ACP33-SPG21_like



Relationship
Block X
Parent Family : Abhydrolase_6


Comments

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 etal.). 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.


Database
Sequences
Interpro : IPR000073 (Alpha/beta hydrolase fold-1), IPR026151 (Maspardin)
PIRSF :
Pdoc :
PFam : PF12697 (Abhydrolase_6)
Prints :
Prosite :
no EC number

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


No Image

No Structure

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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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