Ataxin 1 (ATXN1) Recombinant Protein | ATXN1 recombinant protein

Recombinant Ataxin 1 (ATXN1)

Cat. Num. AAA2018515

• Gene Names: ATXN1; ATX1; SCA1; D6S504E
• Reactivity: Homo sapiens (Human)
• Applications: SDS-Page, Western Blot
• Purity: > 95%
• Synonyms: Ataxin 1 (ATXN1); Recombinant Ataxin 1 (ATXN1); ATXN1 recombinant protein

• Host: E.coli
• Reactivity: Homo sapiens (Human)
• Purity/Purification: > 95%
• Form/Format: 20mM Tris, 150mM NaCl, pH8.0, containing 1mM EDTA, 0.01% SKL, 5% Trehalose.
• Concentration: Original Concentration: 200ug/mL (varies by lot)
• Sequence: The target protein is fused with two N-terminal Tags, His-tag and T7-tag, its sequence is listed below.; TL PPYFMKGSII QLANGELKKV EDLKTEDFIQ SAEISNDLKI DSSTVERIED SHSPGVAVIQ FAVGEHRAQV SVEVLVEYPF FVFGQGWSSC CPERTSQLFD LPCSKLSVGD VCISLTLKNL KNGSVKKGQP VDPASVLLKH SKADGLAGSR HRYAEQENGI NQGSAQMLSE NGELKFPEKM GLPAAPFLTK IEPSKPAATRKRRWSAPESR KLEKSEDEPP LTLPKPSLIP QEVKICI

• Applicable Applications for ATXN1 recombinant protein: Positive Control; Immunogen; SDS-PAGE; Western Blot (WB).
• Application Notes: (May be suitable for use in other assays to be determined by the end user.)
• Source: Prokaryotic expression
• Residues: Thr569~Ile807
• Tags: N-terminal His Tag
• Subcellular Location: Nucleus, Cytoplasm
• Traits: Freeze-dried powder
• Predicted isoelectric point: 7.2
• Usage: Reconstitute in 20mM Tris, 150mM NaCl (pH8.0) to a concentration of 0.1-1.0 mg/mL. Do not vortex.
• Preparation and Storage: Storage:; Avoid repeated freeze/thaw cycles.; Store at 2-8 degree C for one month. ; Aliquot and store at -80 degree C for 12 months.; ; Stability Test:; The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.

Sequence Information

SDS-Page

Testing Data

NCBI and Uniprot Product Information

• NCBI GI #: 51479158
• NCBI GeneID: 6310
• NCBI Accession #: NP_000323.2
• NCBI GenBank Nucleotide #: NM_000332.3
• UniProt Accession #: P54253; Q17S02; Q9UJG2; Q9Y4J1
• Molecular Weight: Predicted Molecular Mass: 29.9kDa; Accurate Molecular Mass: 30kDa as determined by SDS-PAGE reducing conditions.
• NCBI Official Full Name: ataxin-1
• NCBI Official Synonym Full Names: ataxin 1
• NCBI Official Symbol: ATXN1
• NCBI Official Synonym Symbols: ATX1; SCA1; D6S504E
• NCBI Protein Information: ataxin-1; alternative ataxin1; spinocerebellar ataxia type 1 protein
• UniProt Protein Name: Ataxin-1
• Protein Family: Ataxin
• UniProt Gene Name: ATXN1
• UniProt Synonym Gene Names: ATX1; SCA1
• UniProt Entry Name: ATX1_HUMAN

NCBI Description

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

Uniprot Description

ataxin-1: spinocerebellar ataxia type 1 (SCA1) protein. Expansion of CAG repeats in the SCA1 gene results in an abnormally long polyglutamine tract in the protein, causing polyglutamine-induced neurodegeneration. 14-3-3 and Akt kinase stabilize both wild-type and mutant forms of ataxin-1. The expansion of the polyglutamine tract may alter this function.

Protein type: RNA-binding; Nuclear export

Chromosomal Location of Human Ortholog: 6p23

Cellular Component: nucleoplasm; nuclear RNA export factor complex; nuclear matrix; intracellular membrane-bound organelle; cytoplasm; nucleus; nuclear inclusion body

Molecular Function: protein C-terminus binding; identical protein binding; protein binding; DNA binding; protein self-association; poly(U) binding; chromatin binding; poly(rG) binding

Biological Process: RNA processing; transcription, DNA-dependent; adult locomotory behavior; nuclear export; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; visual learning; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of excitatory postsynaptic membrane potential; alveolus development

Disease: Spinocerebellar Ataxia 1