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  4. Recombinant Human DNA-directed RNA polymerase III subunit RPC1 (POLR3A), partial

Recombinant Human DNA-directed RNA polymerase III subunit RPC1 (POLR3A), partial

  • 中文名稱：
    人POLR3A重組蛋白
  • 貨號(hào)：
    CSB-YP018343HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人POLR3A重組蛋白
  • 貨號(hào)：
    CSB-EP018343HU-B
  • 規(guī)格：
  • 來源：
    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：
    人POLR3A重組蛋白
  • 貨號(hào)：
    CSB-BP018343HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人POLR3A重組蛋白
  • 貨號(hào)：
    CSB-MP018343HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    POLR3A
  • Uniprot No.：
  • 別名：
    BC053071; DNA directed RNA polymerase III largest subunit; DNA directed RNA polymerase III subunit A; DNA-directed RNA polymerase III largest subunit; DNA-directed RNA polymerase III subunit A; DNA-directed RNA polymerase III subunit RPC1; hRPC155; MGC62420; POLR 3A; POLR3A; Polymerase (RNA) III (DNA directed) polypeptide A 155kDa; Polymerase (RNA) III (DNA directed) polypeptide A; RGD1305574; RNA polymerase III 155 kDa subunit; RNA polymerase III subunit C1; RNA polymerase III subunit C160; RNA polymerase III subunit RPC155 D; RPC1; RPC1_HUMAN; RPC155
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    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)品評價(jià)

靶點(diǎn)詳情

  • 功能：
    DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.
  • 基因功能參考文獻(xiàn)：
    1. we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann-Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes PMID: 30450527
    2. RNA polymerase III (Pol III) transcribes medium-sized non-coding RNAs (collectively termed Pol III genes), and data show that when Pol III genes are hypo-methylated, MYC amplifies their transcription, regardless of its recognition DNA motif. PMID: 28846112
    3. the first transgenic mice with a leukodystrophy-causing Polr3a mutation do not recapitulate the childhood-onset hypomyelinating leukodystrophy observed in the majority of human patients with POLR3A mutations. PMID: 28407788
    4. This is the first individual reported with two truncating POLR3A variants, suggesting that biallelic severe loss of function variants are associated with WRS. Sequencing of POLR3A and perhaps related genes such as POLR3B in additional patients with clinical findings of WRS is needed to prove this gene-disease association. PMID: 27612211
    5. Findings suggest that AP-1 factors are regulators of RNA polymerase III (Pol III)-driven 5S rRNA and U6 snRNA expression with a potential role in cell proliferation. PMID: 28488757
    6. For some of its complex functions, variation in RNAP III activity levels lead to nonuniform changes in tRNA pools that can shift the translation profiles of key codon-biased mRNAs with resultant phenotypes or disease states. (Review) PMID: 27068803
    7. Mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. PMID: 28459997
    8. RNA polymerase III (RNAPIII) is specialized for transcription of short, abundant nonprotein-coding RNA transcripts. PMID: 27911719
    9. Our transcriptome-wide investigations revealed an overall decrease in the levels of Pol III-transcribed tRNAs and an imbalance in the levels of regulatory ncRNAs such as small nuclear and nucleolar RNAs (snRNAs and snoRNAs). PMID: 27506977
    10. Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype: diffuse hypomyelination is not an obligatory feature of POLR3-related disorders; two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders PMID: 27029625
    11. Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination. PMID: 26011300
    12. Mutations in POLR3A are associated with a more severe clinical course of 4H leukodystrophy. PMID: 25339210
    13. MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations PMID: 23643445
    14. Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients. PMID: 23355746
    15. Studies indicate that aatients with anti-RNAP have an increased risk of malignancy within a 5-year timeframe before or after onset of systemic sclerosis (SSc) skin changes. PMID: 22189167
    16. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy PMID: 22036171
    17. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. PMID: 21855841

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  • 相關(guān)疾病：
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
  • 亞細(xì)胞定位：
    Nucleus.
  • 蛋白家族：
    RNA polymerase beta' chain family
  • 組織特異性：
    Expressed in the brain, in the cortex and the white matter (at protein level).
  • 數(shù)據(jù)庫鏈接：

    HGNC: 30074

    OMIM: 607694

    KEGG: hsa:11128

    STRING: 9606.ENSP00000361446

    UniGene: Hs.436896



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