Reactivity Chart
Goat ATXN3 Polyclonal Antibody | anti-ATXN3 antibody
ATXN3 Polyclonal Antibody
Reactivity Chart
Reactivity Chart
Testing Data
Testing Data
Goat polyclonal antibody to ATXN3. This protein appears to be a component of the ubiquitin proteasome system and has deubiquitinase activity. It may also have roles in neuroprotection, protein homeostasis maintenance, transcriptional and cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. The protein contains Qn repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease also known as spinocerebellar ataxia-3, an autosomal dominant neurologic disorder.
NCBI and Uniprot Product Information
NCBI Description
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
Uniprot Description
Function: 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. Ref.9 Ref.10 Ref.12 Ref.16
Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Ref.10
Subunit structure: Interacts with STUB1/CHIP (when monoubiquitinated)
By similarity. Interacts with DNA repair proteins RAD23A and RAD23B.
Subcellular location: Nucleus matrix. Note: Predominantly nuclear, but not exclusively, inner nuclear matrix. Ref.8
Tissue specificity: Ubiquitous.
Domain: The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains
By similarity.
Post-translational modification: Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity.
Polymorphism: The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients.The MJD1a allele carries a single nucleotide substitution in codon 349 generating a stop codon instead of a Tyr. In the Japanese population, the MJD1a allele seems to be significantly associated with Gln expansion.
Involvement in disease: Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence similarities: Contains 1 Josephin domain.Contains 3 UIM (ubiquitin-interacting motif) repeats.
Research Articles on ATXN3
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Product Notes
The ATXN3 atxn3 (Catalog #AAA448047) is an Antibody produced from Goat and is intended for research purposes only. The product is available for immediate purchase. The ATXN3 Polyclonal Antibody reacts with Human, mouse, rat, bovine, canine, chickevian, donkey, feline, goat, guinea pig, hamster, horse, porcine, rabbit, sheep, simian and may cross-react with other species as described in the data sheet. AAA Biotech's ATXN3 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Western Blot: 1:250-1:2,000. Researchers should empirically determine the suitability of the ATXN3 atxn3 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ATXN3, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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