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  4. Recombinant Human 43 kDa receptor-associated protein of the synapse (RAPSN)

Recombinant Human 43 kDa receptor-associated protein of the synapse (RAPSN)

  • 中文名称：
    人RAPSN重组蛋白
  • 货号：
    CSB-YP613424HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人RAPSN重组蛋白
  • 货号：
    CSB-EP613424HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人RAPSN重组蛋白
  • 货号：
    CSB-EP613424HU-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：
    人RAPSN重组蛋白
  • 货号：
    CSB-BP613424HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人RAPSN重组蛋白
  • 货号：
    CSB-MP613424HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    RAPSN
  • Uniprot No.：
  • 别名：
    43 kD receptor associated protein of the synapse; 43 kDa postsynaptic protein; 43 kDa receptor-associated protein of the synapse; Acetylcholine receptor associated 43 kda protein ; Acetylcholine receptor-associated 43 kDa protein; CMS1D; CMS1E; MGC3597; RAPSN; RAPSN_HUMAN; RAPsyn; Receptor associated protein of the synapse 43kD; Receptor associated protein of the synapse; RING finger protein 205; RNF 205; RNF205
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-412
  • 氨基酸序列
    GQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV TAHSEMGRYK EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH KTISYCKTCL GLPGTRAGAQ LGGQVSLSMG NAFLGLSVFQ KALESFEKAL RYAHNNDDAM LECRVCCSLG SFYAQVKDYE KALFFPCKAA ELVNNYGKGW SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG DRPLQALCLL CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV RFHECVEETE LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP NCRRSSMKPG FV
  • 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

靶点详情

  • 功能：
    Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.
  • 基因功能参考文献：
    1. Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence. PMID: 28495245
    2. Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. PMID: 28024842
    3. Hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with breast cancer. PMID: 27577081
    4. These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity. PMID: 26330529
    5. Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain. PMID: 22326364
    6. a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report] PMID: 21372719
    7. Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis. PMID: 21305573
    8. An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN. PMID: 20930056
    9. nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn PMID: 20978122
    10. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome PMID: 11791205
    11. E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome PMID: 12651869
    12. Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome PMID: 12730725
    13. Twenty patients with the recessive form of congenital myasthenic syndrome with no mutations in the AChR subunit have been tested for this gene; five patients have been found to carry mutations. PMID: 12807980
    14. Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction. PMID: 15036330
    15. recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of postsynaptic congenital myasthenic syndrome PMID: 15252722
    16. These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and delta-catenin. PMID: 15282317
    17. The patient presents with an early onset sporadic congenital myasthenic syndrome was found The mutation RAPSN N88K was found heterozygously to a large deletion of about 4.5 kb disrupting the RAPSN gene. PMID: 15482960
    18. Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic syndromes. PMID: 16931511
    19. No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. PMID: 18179903
    20. All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients. PMID: 19620612

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  • 相关疾病：
    Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11); Fetal akinesia deformation sequence (FADS)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.
  • 蛋白家族：
    RAPsyn family
  • 数据库链接：

    HGNC: 9863

    OMIM: 208150

    KEGG: hsa:5913

    STRING: 9606.ENSP00000298854

    UniGene: Hs.81218