Family

Go to basket

Tree Display

AceDB Schema

XML Display

Feedback

Family Report for: Maspardin-ACP33-SPG21_like

Maspardin-ACP33-SPG21_like



Relationship
Block X
Parent Family : Abhydrolase_6

Comment
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

References
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: Cloning of ACP33 as a novel intracellular ligand of CD4
    Zeitlmann L, Sirim P, Kremmer E, Kolanus W
    Ref: Journal of Biological Chemistry, 276:9123, 2001 : 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.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page
webmaster

Acknowledgements and disclaimer