|Description:||Rabbit polyclonal antibody to Ataxin-1.|
|Immunogen:||A synthetic peptide of human ATXN1|
|Formulation:||PBS with 0.02% sodium azide, 50% glycerol, pH7.3.|
|Synonyms:||Ataxin-1; Spinocerebellar ataxia type 1 protein; ATXN1; ATX1; SCA1|
|Background:||Spinocerebellar ataxia 1 (SCA1), an autosomal dominant neurodegenerative disorder, is characterized by slurred speech, loss of limb coordination, and gait abnormalities resulting from the degeneration of cerebellar Purkinje cells and of a subset of brainstem neurons (1). Individuals with SCA1 have a highly polymorphic CAG repeat expansion encoding a polyglutamine tract in ataxin-1 (2). Akt phosphorylates ataxin-1 at Ser776, which regulates an association with 14-3-3. This interaction increases ataxin-1 stabilization and accumulation resulting in enhanced neurodegeneration (3). In addition, HSP70 controls the effect that phosphorylation has on ataxin-1 stability (4).|
|Storage:||Store at 4℃. Avoid freeze / thaw cycles.|
|Recommended Dilutions:||WB 1:200 - 1:500, IF 1:20 - 1:50|
Target (Information from UniProt)
|Function:||Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism.|
|Tissue Specificity:||Widely expressed throughout the body.|
|Involvement in Disease:||Spinocerebellar ataxia 1: 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. SCA1 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. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.|
|Sequence Similarities:||Belongs to the ATXN1 family.|
|Post-Translational Modification:||Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity.|
|Cellular Location:||Cytoplasm. Nucleus.
Colocalizes with USP7 in the nucleus.
Western blot analysis of CEM cell lysate using ATXN1 antibody.