ataxin-1; spinocerebellar ataxia type 1 protein (ATXN1, ATX1, SCA1)

Function

• unknown
• interacts with LANP
• phosphorylated on Ser-776 by ATK kinase
• interaction with 14-3-3 dependent of Ser-776 phorphorylation
• binds RNA in vitro
• may be involved in RNA metabolism
• expansion of the polyglutamine tract (CAG repeat) may alter this function
• interacts with CIC (putative)
• interacts with ANP32A, PQBP1, UBIN, ATXN1L, USP7 & ZNF804A

Structure

• the AXH domain is required for interaction with CIC
• belongs to the ATXN1 family
• contains 1 AXH domain

Compartment

• cytoplasm (putative), nucleus
• colocalizes with USP7 in the nucleus
• self-association seems to be necessary to form nuclear aggregates

Alternative splicing

• named isoforms=1
• at least 2 isoforms are produced

Expression

• widely expressed throughout the body

Pathology

• CAG trinucleotide repeat expansion in SCA1 gene encoding ataxin-1 in spinocerebellar ataxia type 1

Polymorphism

• the poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population & is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1)
• longer expansions result in earlier onset & more severe clinical manifestations of disease

More general terms

• ataxin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6310
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6310
• OMIM: https://mirror.omim.org/entry/164400
• OMIM: https://mirror.omim.org/entry/601556
• UniProt: http://www.uniprot.org/uniprot/P54253.html