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  4. Recombinant Human Dystonin (DST), partial

Recombinant Human Dystonin (DST), partial

In Stock
  • 货号：
    CSB-YP821036HU
  • 规格：
    ￥1500
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    DST
  • Uniprot No.：
  • 别名：
    DST; BP230; BP240; BPAG1; DMH; DT; KIAA0728Dystonin; 230 kDa bullous pemphigoid antigen; 230/240 kDa bullous pemphigoid antigen; Bullous pemphigoid antigen 1; BPA; Bullous pemphigoid antigen; Dystonia musculorum protein; Hemidesmosomal plaque protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial of Isoform 3
  • 来源：
    Yeast
  • 分子量：
    23.7kDa
  • 表达区域：
    1-195aa
  • 氨基酸序列
    MHSSSYSYRSSDSVFSNTTSTRTSLDSNENLLLVHCGPTLINSCISFGSESFDGHRLEMLQQIANRVQRDSVICEDKLILAGNALQSDSKRLESGVQFQNEAEIAGYILECENLLRQHVIDVQILIDGKYYQADQLVQRVAKLRDEIMALRNECSSVYSKGRILTTEQTKLMISGITQSLNSGFAQTLHPSLTSG
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1.; plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; required for bundling actin filaments around the nucleus.; regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.
  • 基因功能参考文献：
    1. A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves PMID: 28468842
    2. dystonin and bullous pemphigoid antigen 1 are encoded by the same gene but are different proteins with different diseases [review] PMID: 26479498
    3. Two of the six genes (LAMA3 and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events PMID: 24675808
    4. Results identify four families with autosomal recessive EBS from Kuwait in whom the skin fragility is caused by recurrent nonsense mutation in DST-4. PMID: 25059916
    5. Circulating anti-BP230 autoantibodies are not correlated with severity of genital lichen sclerosis or itching. PMID: 24676719
    6. A key role for BPAG1-e in regulating keratinocyte adhesion and migration and suggest a requirement for this protein in controlling functional switching between integrin types in epithelial cells. PMID: 24025550
    7. s conclude that, during entry of herpes simplex virus 1, dystonin has a specific role in plus-ended transport of capsids from the centrosome to the nucleus. PMID: 23903849
    8. Mutations of the EF-hands of BPAG1n4 abolish calcium-dependent microtubule plus end dynamics. PMID: 22995871
    9. study identifies dystonin, a cytoskeleton cross-linker involved in microtubule-based transport, as a binding partner of the HSV-1 protein pUL37, implicated in capsid transport; study provides insight into cellular requirements for HSV-1 capsid transport and identifies dystonin as a nonmotor protein part of transport machinery PMID: 23269794
    10. There is a significantly enhanced ratio between the dynorphin A immunoreactive area and the whole area of the entopeduncular nucleus in genetically dystonic hamsters compared to controls. PMID: 21638337
    11. This is the first report of a defect in the neuronal isoform of dystonin in humans. PMID: 22522446
    12. in motile cells Col XVII recruits BPAG1e to alpha6beta4 integrin and is necessary for activation of signaling pathways, motile behavior, and lamellipodial stability. PMID: 21642434
    13. Bullous pemphigoid antigen 1 (BPAG1) was identified as a melanoma antigen recognized by its auto-antibody. PMID: 20479946
    14. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. PMID: 20164846
    15. BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin. PMID: 19932097
    16. keratinocyte responsive element 3 functions as a position-, copy number-, and orientation-dependent cis-element contributing to tissue-specific regulation of the 230-kDa bullous pemphigoid antigen gene. PMID: 12542537
    17. Bpag1 is not strictly a cytoplasmic/membrane protein but that it can also localize to the nucleus PMID: 14576348
    18. Additional autoantibodies against a 230-kDa protein and against a 190-kDa protein comigrating with bullous pemphigoid antigen 1 (BP230) and periplakin, respectively, were present in all the patients' sera. PMID: 14705806
    19. IFN-gamma-IRF system is involved in BPAG1 gene regulation in type-1 helper T-cell inflammatory skin conditions, such as psoriasis vulgaris PMID: 15560761
    20. antibodies against BP230 can elicit the clinical and immunopathological features of Bullous pemphigoid in neonatal mice PMID: 15725571
    21. findings demonstrated that disruption of the IFN-stimulated responsive element sequences, but not the IFNgamma activation site, markedly suppressed the BPAG1 basal promoter activity and resulted in attenuated IFNgamma response in keratinocytes PMID: 16512878
    22. We report the crystal structure of a stable fragment from BPAG1, residues 226-448, defined by limited proteolysis of the whole plakin domain. The plakin domains has two pairs of spectrin repeats interrupted by a putative Src-Homology 3 (SH3) domain. PMID: 17161423
    23. IgE autoantibodies to BP180 and BP230 are detected at high frequencies in bullous pemphigoid. PMID: 17920818
    24. Vitamin D(3) inhibits expression of bullous pemphigoid antigen 1 through post-transcriptional mechanism without new protein synthesis. PMID: 18207369
    25. BPAG1e is required for efficient regulation of keratinocyte polarity and migration by determining the activation of Rac1. PMID: 19403692

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  • 相关疾病：
    Neuropathy, hereditary sensory and autonomic, 6 (HSAN6); Epidermolysis bullosa simplex, autosomal recessive 2 (EBSB2)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cell projection, axon.; [Isoform 1]: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone.; [Isoform 2]: Cytoplasm, cytoskeleton.; [Isoform 3]: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome.; [Isoform 6]: Nucleus. Nucleus envelope. Membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber.; [Isoform 7]: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.; [Isoform 8]: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cell membrane; Lipid-anchor.
  • 组织特异性：
    Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes.
  • 数据库链接：

    HGNC: 1090

    OMIM: 113810

    KEGG: hsa:667

    STRING: 9606.ENSP00000244364

    UniGene: Hs.604915