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BBS1 Antibody

  • 中文名称：
    BBS1兔多克隆抗体
  • 货号：
    CSB-PA836736LA01HU
  • 规格：
    ￥440
  • 图片：
    • Western Blot
      Positive WB detected in: Mouse lung tissue
      All lanes: BBS1 antibody at 1μg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 66, 70, 50 kDa
      Observed band size: 66 kDa
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA836736LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA836736LA01HU at dilution of 1:100
    • Immunofluorescent analysis of HepG2 cells using CSB-PA836736LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BBS1 Polyclonal antibody
  • Uniprot No.：
    Q8NFJ9
  • 基因名：
    BBS1
  • 别名：
    AI451249 antibody; Bardet-Biedl syndrome 1 antibody; Bardet-Biedl syndrome 1 homolog antibody; Bardet-Biedl syndrome 1 protein antibody; BBS1 antibody; BBS1_HUMAN antibody; BBS2-like protein 2 antibody; BBS2L2 antibody; D19Ertd609e antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human, Mouse
  • 免疫原：
    Recombinant Human Bardet-Biedl syndrome 1 protein (217-417AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，BBS1 Antibody (CSB-PA836736LA01HU)，的标记方式是Non-conjugated。对于BBS1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA836736LB01HU BBS1 Antibody, HRP conjugated ELISA
    FITC CSB-PA836736LC01HU BBS1 Antibody, FITC conjugated
    Biotin CSB-PA836736LD01HU BBS1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:20-1:200
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Plays a role in olfactory cilium biogenesis/maintenance and trafficking.
  • 基因功能参考文献：
    1. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
    2. M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients. PMID: 26103456
    3. BBS1 emerged as a novel predictor of overall survival in MPM. PMID: 26254420
    4. Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. PMID: 24611735
    5. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. PMID: 26022370
    6. A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome. PMID: 25494902
    7. novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
    8. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
    9. mediates endosomal recycling, sorting and signal transduction of Notch receptors PMID: 24681783
    10. Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
    11. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. PMID: 24691443
    12. Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. PMID: 23559858
    13. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. PMID: 22940089
    14. Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. PMID: 23143442
    15. Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes. PMID: 22410627
    16. this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome. PMID: 21520335
    17. This protein has amino acid sequence homolgy with mice. Missense mutation accounts for about 80% of all BBS1 mutations on a similar genetic background across populations. PMID: 12524598
    18. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein. PMID: 12567324
    19. BBS1 participates in complex inheritance and in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype PMID: 12677556
    20. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
    21. disease-associated alleles occur at relatively high frequencies in normal haplotypes PMID: 15517396
    22. The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression. PMID: 17065520
    23. A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. PMID: 18669544
    24. Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis. PMID: 18766993

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  • 相关疾病：
    Bardet-Biedl syndrome 1 (BBS1)
  • 亚细胞定位：
    Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
  • 组织特异性：
    Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
  • 数据库链接：

    HGNC: 966

    OMIM: 209900

    KEGG: hsa:582

    STRING: 9606.ENSP00000317469

    UniGene: Hs.502915