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  4. Recombinant Human Centrosomal protein of 290 kDa (CEP290), partial

Recombinant Human Centrosomal protein of 290 kDa (CEP290), partial

  • 中文名称：
    Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial
  • 货号：
    CSB-YP005241HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial
  • 货号：
    CSB-EP005241HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial
  • 货号：
    CSB-EP005241HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 中文名称：
    Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial
  • 货号：
    CSB-BP005241HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial
  • 货号：
    CSB-MP005241HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CEP290
  • Uniprot No.：
    O15078
  • 别名：
    3H11AG; Bardet-Biedl syndrome 14 protein; BBS14; Cancer/testis antigen 87; CE290_HUMAN; Centrosomal protein 290; Centrosomal protein 290kDa; Centrosomal protein of 290 kDa; Cep290; CT87; CTCL tumor antigen se2 2; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; Meckel syndrome; type 4; MKS4; Monoclonal 3H11 antigen; Nephrocystin 6; Nephrocystin-6; NPHP6; POC3; POC3 centriolar protein homolog; Prostate cancer antigen T21; rd16; SLSN6 1; 2; 5; SLSN6; Tumor antigen se2-2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

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CEP290 antibodies

靶点详情

  • 功能：
    Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Required for efficient recruitment of RAB8A to primary cilium. In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5. Activates ATF4-mediated transcription.
  • 基因功能参考文献：
    1. Arima syndrome patients had a specific CEP290 homozygous variant or compound heterozygous variants. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. PMID: 29217415
    2. Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. PMID: 26936822
    3. One of the more common molecular subtypes of LCA is caused by mutation in the gene encoding CEP290 (Centrosomal protein 290), which has been localized in the outer retina to the photoreceptor cilium PMID: 28510626
    4. our data highlight the tremendous therapeutic prospective of AONs for the treatment of not only CEP290-associated Leber congenital amaurosis (LCA)but potentially many other subtypes of retinal dystrophy caused by splicing mutations PMID: 27106101
    5. We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations PMID: 27434533
    6. We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50). PMID: 28118666
    7. Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene. PMID: 26165328
    8. NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. PMID: 25552655
    9. The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl-/- murine model. PMID: 24671090
    10. results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes. PMID: 26301811
    11. DDA3 controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle. PMID: 25998387
    12. mutation in CEP290 gene in all three affected siblings.This novel 1-bp deletion results in a frameshift mutation leading to a premature stop codon and a truncated protein PMID: 24175892
    13. The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone. PMID: 24356449
    14. Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations. PMID: 23943788
    15. Here we discuss many of these diverse aspects of CEP290 biology and pathology in an attempt to link what we know about the molecular mechanisms of CEP290 function with what we know about CEP290-associated disease. PMID: 24664739
    16. Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a PMID: 24421332
    17. NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. PMID: 23446637
    18. Disruption of particular CEP290 functional domains may lead to particular disease phenotypes. PMID: 24051377
    19. Patients with Leber congenital amaurosis (LCA) and CEP290 mutations had a wide spectrum of visual acuity that was not related to age or length of follow-up. PMID: 23411883
    20. Rkip prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration. PMID: 21685394
    21. Eight patients (from five families) carried the c.2991+1655A>G mutation homozygously. Nine solitary patients carried this variant combined with a nonsense, frameshift, or splice site mutation on the second allele. A new nonsense mutation: c.1078C>T. PMID: 22355252
    22. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. PMID: 21245082
    23. an overview of all CEP290 mutations identified so far, with their associated phenotypes (Review) PMID: 20690115
    24. These data provide the first clear demonstration of respiratory cilia ultrastructural defects in Leber congenital amaurosis patients with CEP290 mutations. PMID: 20805370
    25. A novel nonsense mutation in CEP290 results in nonsense-associated altered splicing. PMID: 20130272
    26. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
    27. 3H11Ag is a DNA- and nuclear matrix-associated protein PMID: 15474516
    28. CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation PMID: 16682973
    29. CEP290 mutations represent one of the most frequent causes of Leber congenital amaurosis identified so far. PMID: 16909394
    30. Results confirm the high frequency of NPHP6/CEP290 mutations in our series of LCA families hailing worldwide (22%). However, it is shown that conversely to other LCA genes, NPHP6 is involved in families of European descent only (38/38). PMID: 17345604
    31. findings of preserved foveal cones and visual brain anatomy in Leber congenital amaurosis with CEP290 mutations, despite blindness and rod cell death, suggest an opportunity for visual restoration of central vision in this form of inherited blindness PMID: 17554762
    32. Mutations in the CEP290 gene were identified in cohort with Joubert syndrome-related disorders. PMID: 17564967
    33. These data identify the CEP290 gene as responsible for Meckel syndrome. PMID: 17564974
    34. NPHP6/CEP290 may have a role in Joubert syndrome and Senior-Loken syndrome PMID: 17617513
    35. a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. PMID: 17705300
    36. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
    37. CEP290 is a key mediator involved in G protein trafficking. The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases. PMID: 17898177
    38. CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic Leber congenital amaurosis families is lower than that of other countries. PMID: 18079693
    39. Mutations in CEP290 is associated with Bardet-Biedl syndrome PMID: 18327255
    40. These results suggest that CEP290 cooperates with Rab8a to promote ciliogenesis and that this function is antagonized by CP110. PMID: 18694559
    41. CEP290 binds to PCM-1 and localizes to centriolar satellites in a PCM-1- and microtubule-dependent manner. PMID: 18772192
    42. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal protein CEP290. PMID: 18950740
    43. CEP290 mutational spectrum in ciliopathies. PMID: 19764032
    44. Findings suggest a critical function for mouse CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration. PMID: 16632484

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  • 相关疾病：
    Joubert syndrome 5 (JBTS5); Senior-Loken syndrome 6 (SLSN6); Leber congenital amaurosis 10 (LCA10); Meckel syndrome 4 (MKS4); Bardet-Biedl syndrome 14 (BBS14)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasmic vesicle.
  • 组织特异性：
    Ubiquitous. Expressed strongly in placenta and weakly in brain.
  • 数据库链接：

    HGNC: 29021

    OMIM: 610142

    KEGG: hsa:80184

    STRING: 9606.ENSP00000448012

    UniGene: Hs.150444

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