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  4. Recombinant Human Oxygen-regulated protein 1 (RP1), partial

Recombinant Human Oxygen-regulated protein 1 (RP1), partial

  • 中文名稱：
    人RP1重組蛋白
  • 貨號：
    CSB-YP020073HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人RP1重組蛋白
  • 貨號：
    CSB-EP020073HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人RP1重組蛋白
  • 貨號：
    CSB-EP020073HU-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RP1重組蛋白
  • 貨號：
    CSB-BP020073HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人RP1重組蛋白
  • 貨號：
    CSB-MP020073HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    RP1
  • Uniprot No.：
  • 別名：
    RP1; ORP1; Oxygen-regulated protein 1; Retinitis pigmentosa 1 protein; Retinitis pigmentosa RP1 protein
  • 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

靶點(diǎn)詳情

  • 功能：
    Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme.
  • 基因功能參考文獻(xiàn)：
    1. This is the first description of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by RP1 mutations. Additional data are necessary to more accurately determine the clinical course and mutation spectrum in patients with RP1-related arRP. PMID: 30027431
    2. This study expands the mutational spectrums of RP1 for retinitis pigmentosa. PMID: 29425069
    3. These results strongly suggest that these mutations in RP1 are responsible for the retinal phenotype in affected individuals of all four consanguineous families. PMID: 27307693
    4. Three XLRP families (RP-001, RP-002, and RP-003) were reported in this study, and 2 different disease-causing mutations were detected. We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene. PMID: 27768226
    5. seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis PMID: 26806561
    6. The L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration. PMID: 25088982
    7. We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 mutations. PMID: 25883087
    8. it reports that different regions of RP1 can also lead to arRCD. PMID: 25692139
    9. Two novel heterozygous null mutations in RP1 co-segregate with the disease in autosomal recessive retinitis pigmentosa patients. PMID: 25494902
    10. RP1 phosphorylation at Ser(236) by CK2 seems to play a significant role in cell adhesion and might initiate new insights in the CK2 and EB1 family protein association. PMID: 23844040
    11. Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. PMID: 23940504
    12. p.Ser542Stop is a single founder mutation and the most prevalent described mutation in the Spanish population. It causes early-onset RP with a rapid macular degeneration and is responsible for 4.5% of all cases. PMID: 22917891
    13. The most severe missense mutation occurred in patients with p.D984G in RP1. PMID: 23049240
    14. A novel homozygous retinitis pigmentosa nonsense mutation in exon 4 of the RP1 gene, c.1012C>T (p.R338*) was identified in the proband and her two affected sisters. PMID: 23077400
    15. molecular mechanism of RP1 mutation PMID: 22927954
    16. The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related retinitis pigmentosa. PMID: 22317909
    17. Four novel deletions and nonsense mutations in the RP1, of which two may represent recurrent mutations in this population, have been identified in a French cohort of retinitis pigmentosa. PMID: 22052604
    18. We describe the clinical findings in the first case, to our knowledge, of unilateral retinitis pigmentosa in a person carrying a germline mutation in RP1 gene. Detailed evaluation confirmed the dysfunction to be confined to one eye. PMID: 21746989
    19. A relatively higher frequency of missense mutations found in the Chinese patients may suggest an ethnic diversity in the RP1 mutation patterns. PMID: 20664799
    20. This report is the first to associate autosomal recessive retinitis pigmentosa with compound heterozygous nonsense mutations in RP1. PMID: 19933189
    21. The presence of RP1/Rp1 in connecting cilia suggests that it may participate in transport of proteins or maintenance of cilial structure. PMID: 11773008
    22. Study data suggest that genetic variation at the RP1 locus is one of the likely candidate determinants for plasma triglyceride and HDL-cholesterol metabolisms. PMID: 12764676
    23. RP1 (Arg677ter) mutation in a patient with retinitis pigmentosa suggests that this common autosomal dominant RP mutation can arise independently in the population PMID: 12882812
    24. The most common Arg677X mutation in the white population was not found in the Japanese population; instead a novel mutation was found. PMID: 15183808
    25. Autosomal recessive retinitis pigmentosa is associated with homozygous mutations of the RP1 gene. PMID: 15863674
    26. These results provide strong evidence that mutations in RP1 can result in recessive as well as dominant retinitis pigmentosa. PMID: 15980210
    27. Mutations were only found in Caucasian families with origins in the British Isles. RP1 mutation frequency of 5.3% in South African autosomal dominant retinitis pigmentosa is comparable to frequency reported in other populations. PMID: 16568030
    28. N985Y mutation segregated with the phenotype from 1 Chinese family with mild and late-onset autosomal dominant retinitis pigmentosa (ADRP) a finding that has not been documented in other races. PMID: 18347624

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  • 相關(guān)疾?。?/div>
    Retinitis pigmentosa 1 (RP1)
  • 亞細(xì)胞定位：
    Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors.
  • 組織特異性：
    Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10263

    OMIM: 145750

    KEGG: hsa:6101

    STRING: 9606.ENSP00000220676

    UniGene: Hs.732820