Overview

  • Product name
    Recombinant Human Ataxin 1 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      KGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPG VAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSK
    • Amino acids
      576 to 675
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab152669 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • alternative ataxin1
    • Ataxin-1
    • ATX1
    • ATX1_HUMAN
    • Atxn1
    • D6S504E
    • OTTHUMP00000016065
    • SCA1
    • Spinocerebellar ataxia type 1 protein
    see all
  • Function
    Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function.
  • Tissue specificity
    Widely expressed throughout the body.
  • Involvement in disease
    Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). 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.
    Contains 1 AXH domain.
  • Domain
    The AXH domain is required for interaction with CIC.
  • Post-translational
    modifications
    Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.
    Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.
  • Cellular localization
    Cytoplasm. Nucleus. Colocalizes with USP7 in the nucleus.
  • Information by UniProt

Images

  • ab152669 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab152669 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab152669.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

Sign up