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  4. Recombinant Human Kinesin heavy chain isoform 5A (KIF5A), partial

Recombinant Human Kinesin heavy chain isoform 5A (KIF5A), partial

  • 中文名稱：
    人KIF5A重組蛋白
  • 貨號：
    CSB-YP618633HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人KIF5A重組蛋白
  • 貨號：
    CSB-EP618633HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人KIF5A重組蛋白
  • 貨號：
    CSB-EP618633HU-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KIF5A重組蛋白
  • 貨號：
    CSB-BP618633HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人KIF5A重組蛋白
  • 貨號：
    CSB-MP618633HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    D12S1889; KIF 5A; Kif5a; KIF5A_HUMAN; Kinesin family member 5A; Kinesin heavy chain isoform 5A; Kinesin Heavy Chain Neuron Specific; Kinesin heavy chain neuron-specific 1; MY050; Neuronal kinesin heavy chain; NKHC 1; NKHC; SPG 10
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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：
    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

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靶點詳情

  • 功能：
    Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.
  • 基因功能參考文獻：
    1. This study identified three pathogenic KIF5A mutations in Korean Charcot-Marie-Tooth neuropathy type 2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p.Leu558Pro was determined to be a novel de novo mutation. PMID: 29892902
    2. We conclude that reduced expression of axonal motor KIF5A may have important implications in determining axonal transport deficits and ongoing neurodegeneration in multiple sclerosis PMID: 26785938
    3. Kinesin family member 5A protein (Kif5A) with hereditary spastic paraplegia (HSP)-causing mutations showed a variety of significantly reduced catalytic and mechanical activities as a result of each mutation, with the shared phenotype from each that motility was significantly reduced. PMID: 28678816
    4. Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece. The first nonsense mutation in KIF5A was identified in HSP patient. PMID: 26374131
    5. De novo stop-loss frameshift variants in KIF5A result in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. PMID: 27463701
    6. KIF5A p.Ser974fs de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. PMID: 27414745
    7. Zinc ion-mediated inhibition of KIF5A activity might be one molecular cause contributing to impaired transport processes within brain and other organs in cases of zinc dyshomeostasis. PMID: 28122263
    8. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. PMID: 27084214
    9. study describes 2 Spanish families with an adult onset complicated autosomal dominant hereditary spastic paraplegia with a mild sensory neuropathy; identified 2 novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions; both were located in the highly conserved kinesin motor domain of the protein PMID: 26403765
    10. Kinesin-14 blocks microtubule nucleation in yeast and reveal that this inhibition is countered by the kinesin-5 protein, Cut7.[Cut7, Pkl1] PMID: 25348260
    11. the novel mutation p.Leu259Gln in two siblings affected by Hereditary spastic paraplegia (HSP) complicated by deafness and in their father with a pure form of HSP. PMID: 24939576
    12. Combining next-generation sequencing and conventional sequencing, study confirms that KIF5A mutations can cause variable phenotypes ranging from hereditary spastic paraplegia to Charcot-Marie-Tooth disease type 2 PMID: 25008398
    13. Conformations of microtubule-bound human kinesin-5 motor domain were visualised at successive steps in its ATPase cycle. PMID: 24449904
    14. A review of the mechanism of pathogenesis involved in spastic paraplegia type 10 when KIF5A is inactivated by mutations. PMID: 22785106
    15. Data suggest that the impairment of the microtubule-kinesin function by alpha-synuclein oligomers drives early neurite pathology. PMID: 23744071
    16. This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport. PMID: 22788249
    17. These results provide an insight into the molecular mechanisms of KIF5A, which regulate inhibitory neural transmission and KIF5A deletion causes epilepsy. PMID: 23217743
    18. The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. PMID: 21623771
    19. Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia PMID: 21107874
    20. Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer. PMID: 21231887
    21. rs1678542 in KIF5A confers susceptibility for multiple sclerosis. PMID: 20508602
    22. identification of a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia PMID: 12355402
    23. An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity. PMID: 15452312
    24. novel missense mutation in the KIF5A gene in a large kindred with uncomplicated autosomal dominant hereditary spastic paraplegia with an adult age of symptom onset PMID: 16489470
    25. All mutations in KIF5A are single amino-acid exchanges and located in kinesin's motor or neck domain and the mutation in the neck (A361V) did not change the gliding properties in vitro. PMID: 18203753
    26. Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). PMID: 18245137
    27. In this study identified a novel missense mutation in KIF5A in an Italy family. PMID: 18500496
    28. The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation. PMID: 18640125
    29. SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France. PMID: 18853458

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  • 相關(guān)疾?。?/div>
    Spastic paraplegia 10, autosomal dominant (SPG10); Myoclonus, intractable, neonatal (NEIMY)
  • 亞細胞定位：
    Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Perikaryon.
  • 蛋白家族：
    TRAFAC class myosin-kinesin ATPase superfamily, Kinesin family, Kinesin subfamily
  • 組織特異性：
    Distributed throughout the CNS but is highly enriched in subsets of neurons.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 6323

    OMIM: 602821

    KEGG: hsa:3798

    STRING: 9606.ENSP00000408979

    UniGene: Hs.151219