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  4. Recombinant Human Neural retina-specific leucine zipper protein (NRL)

Recombinant Human Neural retina-specific leucine zipper protein (NRL)

  • 中文名稱：
    人NRL重組蛋白
  • 貨號：
    CSB-YP016086HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人NRL重組蛋白
  • 貨號：
    CSB-EP016086HU-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NRL重組蛋白
  • 貨號：
    CSB-BP016086HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人NRL重組蛋白
  • 貨號：
    CSB-MP016086HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    NRL
  • Uniprot No.：
  • 別名：
    D14S46E; Neural retina-specific leucine zipper protein; Neural retinal specific leucine zipper; NRL; NRL MAF; NRL_HUMAN; RP27
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full length protein
  • 表達區(qū)域：
    1-237
  • 氨基酸序列
    MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS PTFSEPGMVG ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ GQGPVPVDGP HGYYPGSPEE TGAQHVQLAE RFSDAALVSM SVRELNRQLR GCGRDEALRL KQRRRTLKNR GYAQACRSKR LQQRRGLEAE RARLAAQLDA LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL
  • 蛋白標簽：
    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：
    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

靶點詳情

  • 功能：
    Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter.
  • 基因功能參考文獻：
    1. that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup PMID: 29533784
    2. We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa. PMID: 28106895
    3. investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD) PMID: 28590779
    4. This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype. PMID: 27732723
    5. The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family. PMID: 27081294
    6. In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation. PMID: 23534816
    7. This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa. PMID: 21981118
    8. Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis. PMID: 20551322
    9. In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. PMID: 19933183
    10. The disease caused by NRL mutations found in this study appears to be more severe PMID: 11879142
    11. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. PMID: 12552256
    12. the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina PMID: 12566383
    13. The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity. PMID: 12796249
    14. both Nrl and Crx are required for full transcriptional activity of the PDE6A gene PMID: 15001570
    15. the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes PMID: 15328344
    16. Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome PMID: 15459973
    17. an unusual clinical phenotype in humans with loss-of-function mutations in NRL PMID: 15591106
    18. signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination PMID: 16854989
    19. Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity. PMID: 17335001
    20. six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina. PMID: 11477108

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  • 相關疾病：
    Retinitis pigmentosa 27 (RP27); Retinal degeneration autosomal recessive clumped pigment type (RDCP)
  • 亞細胞定位：
    Cytoplasm. Nucleus.
  • 蛋白家族：
    BZIP family
  • 組織特異性：
    Expressed in the brain and the retina. Expressed strongly in rod and cone cells (at protein level).
  • 數(shù)據(jù)庫鏈接：

    HGNC: 8002

    OMIM: 162080

    KEGG: hsa:4901

    STRING: 9606.ENSP00000380193

    UniGene: Hs.652297