Anti-Ataxin 3/ATXN3 Antibody Picoband® Fluoro550 Conjugated

ATXN3 (Ataxin 3), also known as AT3, MJD GENE, MJD1, SCA3 GENE, ATX3, JOS, Spinocerebellar ataxia-3, Machado-Joseph disease protein 1, is a protein that in humans is encoded by the ATXN3 gene. ATXN3 ranges in size from 360 to 374 amino acids. Using Northern blot analysis showed that ATXN3 mRNA was ubiquitously expressed in human tissues. They detected at least 4 ATXN3 transcripts of 1.4, 1.8, 4.5, and 7.5 kb and suggested that the different mRNA species probably result from differential splicing and polyadenylation. Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains (CAG) n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Ataxin-3 interacted with 2 human homologs of the yeast DNA repair protein RAD23, HHR23A (RAD23A) and HHR23B (RAD23B) . Both normal and mutant ataxin-3 proteins interacted with the ubiquitin-like domain at the N terminus of the HHR23 proteins, which is a motif important for nucleotide excision repair. However, in HEK 293 cells, HHR23A was recruited to intranuclear inclusions formed by the mutant ataxin-3 through its interaction with ataxin-3.

A synthetic peptide corresponding to a sequence at the C-terminus of human Ataxin 3, different from the related mouse and rat sequences by two amino acids.

Chromatin Modifying Enzymes, Deubiquitination, Epigenetics and Nuclear Signaling, Neurodegenerative Disease, Neurology Process, Neuroscience, Transcription, Ubiquitin & Ubiquitin Like Modifiers

Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone- binding protein that regulates transcription. .

1. Burnett, B., Li, F., Pittman, R. N. The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum. Molec. Genet. 12: 3195-3205, 2003. 2. Paulson, H. L., Das, S. S., Crino, P. B., Perez, M. K., Patel, S. C., Gotsdiner, D., Fischbeck, K. H., Pittman, R. N.Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain.Ann. Neurol. 41: 453-462, 1997.