Recombinant human Ataxin 3 protein (ab188685)

Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAE GGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQ RLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLAL FLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLK EQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLR RAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQ QQQQQGDLSGQSSHPCERPATSSGALGSDLGKACSPFIMFATFTLYLTYE LHVIFALHYSSFPL
    • Molecular weight
      42 kDa including tags
    • Amino acids
      1 to 364
    • Tags
      His tag N-Terminus
    • Additional sequence information
      NP_004984.

Specifications

Our Abpromise guarantee covers the use of ab188685 in the following tested applications.

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

  • Biological activity

    Typical enzyme concentration for use in vitro ranges from 1-5 µM depending on conditions and substrate.

  • Applications

    SDS-PAGE

    Functional Studies

  • Purity
    >95% by SDS-PAGE .
    95%, by SDS-PAGE under reducing conditions and visualized by Colloidal Coomassie® Blue stain.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on Dry Ice. Store at -80°C. Avoid freeze / thaw cycle.

    pH: 8
    Constituents: 1.19% HEPES, 0.58% Sodium chloride, 10% Glycerol, 0.01% EDTA, 0.02% DTT

    This product is an active protein and may elicit a biological response in vivo, handle with caution.

General Info

  • Alternative names
    • AT3
    • Ataxin 3
    • ataxin 3 variant h
    • ataxin 3 variant m
    • ataxin 3 variant ref
    • Ataxin-3
    • ATX3
    • ATX3_HUMAN
    • ATXN3
    • EC 3.4.22.
    • JOS
    • Josephin
    • Machado Joseph disease
    • Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
    • Machado Joseph disease protein 1
    • Machado-Joseph disease protein 1
    • Machado-Joseph disease protein 1 homolog
    • MJD
    • MJD gene
    • MJD1
    • Olivopontocerebellar ataxia 3
    • OTTHUMP00000221583
    • OTTHUMP00000221585
    • OTTHUMP00000221586
    • OTTHUMP00000221587
    • OTTHUMP00000231995
    • OTTHUMP00000231997
    • Rsca3
    • SCA3
    • SCA3 gene
    • Spinocerebellar ataxia type 3 protein
    see all
  • Function
    Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a histone-binding protein that regulates transcription. Acts as a deubiquitinating enzyme.
  • Tissue specificity
    Ubiquitous.
  • Involvement in disease
    Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) [MIM:109150]; also known as Machado-Joseph disease (MJD). 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 degeneration of the cerebellum 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 ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
  • Sequence similarities
    Contains 1 Josephin domain.
    Contains 3 UIM (ubiquitin-interacting motif) repeats.
  • Cellular localization
    Nucleus matrix. Predominantly nuclear, but not exclusively, inner nuclear matrix.
  • Information by UniProt

References

ab188685 has not yet been referenced specifically in any publications.

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

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