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Ataxin 3 (ATXN3)

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AT3; ATX3; JOS; MJD; MJD1; SCA3; Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein; Olivopontocerebellar Ataxia 3; Autosomal dominant,Ataxin 3

Ataxin 3 (ATXN3)
CCC D250
HGNC 7106
MGI 1099442
PubMed 23820820
RGD 621567
UniProt P54252
Wiki ATXN3
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.
ATXN3 has deubiquitinase activity and appears to be a component of the ubiquitin proteasome system. It may also have roles in transcriptional regulation and neuroprotection.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD250Hu01 Recombinant Ataxin 3 (ATXN3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Ataxin 3 (ATXN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 3 (ATXN3) Polyclonal Antibody Customized Service Offer
Assay Kits SED250Hu ELISA Kit for Ataxin 3 (ATXN3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 3 (ATXN3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 3 (ATXN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 3 (ATXN3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 3 (ATXN3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 3 (ATXN3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 3 (ATXN3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 3 (ATXN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 3 (ATXN3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 3 (ATXN3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 3 (ATXN3) ELISA Kit Customized Service Offer
  1. "CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1."Nat. Genet. 8:221-228(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Machado-Joseph disease gene products carrying different carboxyl termini."Neurosci. Res. 28:373-377(1997) [PubMed] [Europe PMC] [Abstract]
  3. "The genomic structure and expression of MJD, the Machado-Joseph disease gene."J. Hum. Genet. 46:413-422(2001) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Ataxin-3 is transported into the nucleus and associates with the nuclear matrix."Hum. Mol. Genet. 7:991-997(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities."J. Biol. Chem. 277:45004-45012(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes."Biol. Chem. 388:973-978(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis."J. Biol. Chem. 288:17145-17155(2013) [PubMed] [Europe PMC] [Abstract]
  11. "The ubiquitin-conjugating enzyme (E2) Ube2w ubiquitinates the N terminus of substrates."J. Biol. Chem. 288:18784-18788(2013) [PubMed] [Europe PMC] [Abstract]
  12. "Structural modeling of ataxin-3 reveals distant homology to adaptins."Proteins 50:355-370(2003) [PubMed] [Europe PMC] [Abstract]
  13. "The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition."Proc. Natl. Acad. Sci. U.S.A. 102:10493-10498(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain."Proc. Natl. Acad. Sci. U.S.A. 102:12700-12705(2005) [PubMed] [Europe PMC] [Abstract]