Taxonomic distribution of proteins containing AXH domains

The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing AXH domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.

Identification of a self-association region within the SCA1 gene product, ataxin-1.

Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, Orr HT
Hum Mol Genet. 1997; 6: 513-8

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract within the SCA1 gene product, ataxin-1. Expansion of this tract is believed to result in a gain of function by the mutant protein, perhaps through altered self-associations or interactions with other cellular proteins. We have used the yeast two hybrid system to determine if ataxin-1 is capable of multimerization. This analysis revealed that ataxin-1 does have the ability to self-associate, however, this association does not appear to be influenced by expansion of the polyglutamine tract. Consistent with this finding, deletion analysis excluded the involvement of the polyglutamine tract in ataxin-1 self-association, and instead localized the multimerization region to amino acids 495-605 of the wild type protein. These results, while identifying an ataxin-1 self-interaction region, fail to support a proposed model of polar-zipper mediated multimerization involving the ataxin-1 polyglutamine tract.

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

Quan F, Janas J, Popovich BW
Hum Mol Genet. 1995; 4: 2411-3