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  4. Recombinant Human Probable helicase senataxin (SETX), partial

Recombinant Human Probable helicase senataxin (SETX), partial

  • 中文名稱(chēng)：
    人SETX重組蛋白
  • 貨號(hào)：
    CSB-YP800097HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱(chēng)：
    人SETX重組蛋白
  • 貨號(hào)：
    CSB-EP800097HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱(chēng)：
    人SETX重組蛋白
  • 貨號(hào)：
    CSB-EP800097HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱(chēng)：
    人SETX重組蛋白
  • 貨號(hào)：
    CSB-BP800097HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱(chēng)：
    人SETX重組蛋白
  • 貨號(hào)：
    CSB-MP800097HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SETX
  • Uniprot No.：
  • 別名：
    ALS4; Amyotrophic lateral sclerosis 4 protein; AOA2; bA479K20.2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; Probable helicase senataxin; SCAR1; SEN1 homolog; Setx; SETX_HUMAN
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination. Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation. Involved in DNA double-strand breaks damage response generated by oxidative stress. In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage. Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription. Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis.
  • 基因功能參考文獻(xiàn)：
    1. Data suggest that senataxin (SETX) functions at DNA double-strand breaks (DSBs) in order to limit translocations and ensure cell viability. PMID: 29416069
    2. Expression of AOA2-causative form of SETX in Drosophila muscles resulted in an alteration of translational repression of Elav. PMID: 28245518
    3. The pan-neuronal expression of wild-type or mutant forms of human senataxin induced morphological plasticity at neuromuscular junction synapses. PMID: 27197982
    4. Novel compound heterozygous mutations of SETX in Chinese AOA2 pedigree were identified, which broaden the mutation spectrum of SETX. PMID: 27644330
    5. The role of senataxin in regulating gene expression on a genome-wide scale in Ataxia oculomotor apraxia 2 neurons is described. PMID: 26231220
    6. these data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders. PMID: 25822250
    7. BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites. PMID: 25699710
    8. Results identify novel genes related to senataxin function in normal and disease states. PMID: 24760770
    9. genetic variations in the senataxin gene may contribute to Alzheimer's disease pathogenesis in the Taiwanese Han population. PMID: 24694197
    10. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PMID: 24244371
    11. Description of a new SETX gene mutation, which when combined with a recognized SETX mutation results in ataxia with oculomotor apraxia type 2. PMID: 23566282
    12. This study report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing PMID: 23786967
    13. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. PMID: 23941260
    14. provide evidence that Rrp45, a subunit of the exosome, associates with SETX in a manner dependent on SETX sumoylation PMID: 24105744
    15. Significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having amyotrophic lateral sclerosis 4. PMID: 23129421
    16. Senataxin plays an important cellular role at the interface of transcription and the DNA damage response and that the resolution of R-loop structures is a key event in the maintenance of genome stability. PMID: 23149945
    17. novel missense mutation c.6406C>T (p.R2136C) in a patient with inflammatory radiculoneuropathy and amyotrophic lateral sclerosis PMID: 22577233
    18. This sstudy descibed that SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. PMID: 22088787
    19. Senataxin mutations in amyotrophic lateral sclerosis PMID: 21190393
    20. In effect, R-loops formed over G-rich pause sites, followed by their resolution by senataxin, are key steps in the termination process. PMID: 21700224
    21. results reveal a key role of senataxin in neuronal differentiation through the fibroblast growth factor 8 signalling and This study provided initial molecular bases to explain the neurodegeneration associated with loss-of-function mutations in senataxin. PMID: 21576111
    22. The partial co-localization of SETX with telomeric DNA, demonstrated by combined immunofluorescence-Q-FISH and chromatin immunoprecipitation, suggests a possible involvement of SETX in telomere stability. PMID: 21112256
    23. A novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with ataxia with oculomotor apraxia type 2. PMID: 21324166
    24. SETX mutations have a role in ataxia with oculomotor apraxia [case report] PMID: 19593598
    25. Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. PMID: 14770181
    26. Missense Mutations in senataxin is associated with juvenile amyotrophic lateral sclerosis PMID: 15106121
    27. Four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T-->G mutation (L1976R), and the 193G-->A mutation(E65K). PMID: 15732101
    28. 2 new homozygous missense mutations in SETX, M274I & R1294C, were found.The double missense mutations are responsible for autosomal recessive ataxia-ocular apraxia 2 but not autosomal dominant juvenile ALS. PMID: 16717225
    29. Mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor with mutations in syntaxin. PMID: 17096168
    30. defect in 2O2-induced DNA double-strand breaks repair was corrected by full-length SETX cDNA PMID: 17562789
    31. A patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure. PMID: 17593543
    32. Clinically this family presented with a phenotype combining typical features of AOA2 and ALS4; thus extending the phenotypic spectrum of SETX mutations. PMID: 18350359
    33. study identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with autosomal recessive cerebellar ataxia with cerebellar atrophy and raised alpha-fetoprotein PMID: 18405395
    34. the presence of this variation in a patient with sporadic ALS, and its absence in 200 controls, supports an association between senataxin and sporadic amyotrophic lateral sclerosis PMID: 19058054
    35. study analysed the phenotypic spectrum of 19 ataxia with oculo-motor apraxia type 2 patients with mutations in SETX PMID: 19141356
    36. senataxin plays a role in coordinating transcriptional events, in addition to its role in DNA repair. PMID: 19515850
    37. We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels. PMID: 19569000
    38. large deletions, insertions, and duplications are probably an underestimated cause for ataxia with oculomotor apraxia 2 PMID: 19744353
    39. Human Senataxin, is a nuclear protein involved in the DNA damage response. It is mostly located in the nucleus and nucleoplasm with less staining in the cytoplasm. It is involved in DNA single-strand break repair. PMID: 17562789

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  • 相關(guān)疾病：
    Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1); Amyotrophic lateral sclerosis 4 (ALS4)
  • 亞細(xì)胞定位：
    Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Chromosome. Chromosome, telomere. Cell projection, axon. Cell projection, growth cone.
  • 蛋白家族：
    DNA2/NAM7 helicase family
  • 組織特異性：
    Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 445

    OMIM: 602433

    KEGG: hsa:23064

    STRING: 9606.ENSP00000224140

    UniGene: Hs.460317