Recombinant Human Ataxin-7 (ATXN7) Protein (His&Myc)

Name: Recombinant Human Ataxin-7 (ATXN7) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-01667P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Ataxin-7 (ATXN7) Protein (His&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	O15265
Target Symbol	ATXN7
Synonyms	Spinocerebellar ataxia type 7 protein
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	GERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRH
Expression Range	79-401aa
Protein Length	Partial
Mol. Weight	43.1 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.
Subcellular Location	[Isoform a]: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.; [Isoform b]: Cytoplasm.
Protein Families	Ataxin-7 family
Database References	HGNC: 10560 OMIM: 164500 KEGG: hsa:6314 STRING: 9606.ENSP00000381590 UniGene: PMID: 28645341 we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression. PMID: 28585930 The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion. PMID: 28597910 ATXN7 may be a potential predictor of post-operative prognosis of Hepatitis B Virus-related hepatocellular carcinoma . PMID: 27855399 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes PMID: 25869926 Our study provided the clinico-genetic analysis of nine Indian SCA7 families and CAG repeat distribution analysis in diverse Indian populations showed occurrence of ATXN7-CAG intermediate alleles in a predisposed population PMID: 25900954 Data show that the aggregates formed by polyQ-expanded ataxin 7 sequester ubiquitin-specific protease (USP22) through specific interactions. PMID: 26195632 Two pathological polyglutamine proteins, truncated Ataxin-7 and full-length Ataxin-3, suggest that accumulation of insoluble aggregates beyond a critical threshold could be responsible for neurotoxicity. PMID: 26210447 The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia. PMID: 25643591 Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression. PMID: 25755283 This study shown evidence in vivo, in the SCA7 KI mouse model, that progressive accumulation of mutant ataxin-7 impairs autophagy. PMID: 24859968 Epidemiological evidence of a SCA7 founder effect in a Mexican population with spinocerebellar ataxia. PMID: 23368522 analysis of the founder effect and ancestral origin of the spinocerebellar ataxia type 7 mutation in Mexican families PMID: 24374739 Haplotype and phylogenetic analyses provide evidence showing that the relatively high frequency of SCA7 in Mexican population is the result of a founder mutation and that Mexican SCA7 carriers possess the Western European ancestry. PMID: 23828024 polyQ-expanded ataxin-7 directly bound the Gcn5 catalytic core of SAGA while in association with its regulatory proteins, Ada2 and Ada3. PMID: 24129567 The results demonstrated that a common genetic variant in the ataxia-causing gene ATXN7 influences cerebellar grey matter volume in healthy young adults. PMID: 23100044 Sequestration of the ponsin splice variant R85FL by the polyglutamine-expanded Atx7 in cell is mediated by the specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7. PMID: 23892081 role of ataxin-7 in differentiation of photoreceptors and cerebellar neurons PMID: 23226359 Full-length and cleaved fragments of the SCA7 disease protein ataxin-7 (ATXN7) are differentially degraded in a spinocerebellar ataxia type 7 rat model. PMID: 22367614 Critical nuclear events lead to transcriptional alterations in polyglutamine diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD). PMID: 22917585 The results of this study demonstrated that oxidative stress contributes to ATXN7 aggregation as well as toxicity. PMID: 22827889 ATXN7 distribution frequently shifts from the nucleus to the cytoplasm; cytoplasmic ATXN7 associates with microtubules (MTs); expression of ATXN7 stabilizes MTs; findings provide a novel physiological function of ATXN7 in regulation of cytoskeletal dynamics and suggest that abnormal cytoskeletal regulation may contribute to SCA7 disease pathology PMID: 22100762 The results of this study indicated that SCA7 disease pathogenesis involves a convergence of alterations in a variety of different cell types to fully recapitulate the cerebellar degeneration. PMID: 22072678 The Trinucleotide Repeat Expansion mutation in ATXN7 related to Spinocerebellar ataxia type 7. PMID: 21827908 The interaction between APLP2 and ataxin-7 and proteolytic processing of APLP2 may contribute to the pathogenesis of spinocerebellar ataxia type 7. PMID: 20732423 identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network; ataxia network is significantly enriched for proteins that interact with known macular degeneration-causing proteins PMID: 21078624 In response to polyglutamine toxicity, transgenic murine SCA7 rods go through a range of radically different cell fates correlating with the nature, level and ratio of mutant transgene ATXN7 species. PMID: 20600911 The solution structures of the SCA7 domain of both ATXN7 and ATXN7L3 reveal a new, common zinc-finger motif at the heart of two distinct folds, providing a molecular basis for the observed functional differences. PMID: 20634802 This study suggested that the SCA7 gene alternation in SCA7 patient in Chinese Han family. PMID: 20739808 These results demonstrate an influence of SUMOylation on the multistep aggregation process of ATXN7 and implicate a role for ATXN7 SUMOylation in SCA7 pathogenesis. PMID: 19843541 analysis of RNA hairpins selective for silencing the mutant ataxin-7 transcript PMID: 19789634 CAG expansion in SCA7 locus is associated with Machado-Joseph disease PMID: 11697524 Activated caspase-3 was recruited into the inclusions in both the cell models and human SCA7 brain and its expression was upregulated in cortical neurones. PMID: 11709544 Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals PMID: 12070661 identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in the neurodegeneration patterns characteristic of SCA7 PMID: 12533095 Demonstrate here that ataxin-7 is the human orthologue of the yeast SAGA SGF73 subunit and is a bona fide subunit of the human TFTC-like transcriptional complexes. PMID: 15115762 This patient with Spinocerebellar Ataxia 7 due to unique instability of the CAG repeat. PMID: 15316811 Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration in Spinocerebellar ataxia type 7. PMID: 15932940 We show that transcription mediated by both CBP and RORalpha1 was repressed by expanded ataxin-7. Ataxin-7 may act as a repressor of transcription by inhibiting the acetylation activity of TFTC and STAGA. PMID: 15936949 Ataxin-90A aggregates differed morphologically from ataxin7 - 100Q aggregatesand were more toxic to mesencephalic neurons, suggesting that toxicity was determined by the type of aggregate rather than the cellular misfolding response. PMID: 16325416 Trinucleotide repeat expansions of ataxin 7 may be involved in neurodegenerative diseases such as cerebellar ataxia. PMID: 16962040 Origin of the SCA7 gene mutation in South Africa and the possibility of a founder effect in the Black population PMID: 17026624 Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal failure. PMID: 17254003 We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). PMID: 17720198 expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia PMID: 18325672 The patients with genetically confirmed SCA 7 presented an early macular dysfunction, preceding any signs of abnormalities in fundus appearance PMID: 19172503 Ataxin-7 is the human orthologue of SGF73, which is a subunit of the yeast SAGA complex, a coactivator required for transcription of a subset of RNA Pol II-dependent genes. Ataxin-7 is a new subunit of the mammalian SAGA-like complexes, TFTC/STAGA. PMID: 15115762

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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