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  4. Recombinant Human Synaptojanin-1 (SYNJ1), partial

Recombinant Human Synaptojanin-1 (SYNJ1), partial

  • 货号：
    CSB-YP023016HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP023016HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP023016HU-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：
  • 货号：
    CSB-BP023016HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP023016HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    4; 5-trisphosphate 5-phosphatase 1; Inositol 5' phosphatase (synaptojanin 1); Inositol 5' phosphatase; INPP 5G; INPP5G; KIAA0910; PARK20; Polyphosphoinositide phosphatase; Synaptic inositol 1 4 5 trisphosphate 5 phosphatase 1; Synaptic inositol 145 trisphosphate 5 phosphatase 1; Synaptic inositol-1; Synaptojanin 1; Synaptojanin 1 polyphosphoinositide phosphatase; Synaptojanin-1; Synaptojanin1; Synj 1; Synj1; SYNJ1_HUMAN
  • 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

靶点详情

  • 功能：
    Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis. Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2.
  • 基因功能参考文献：
    1. A novel mutation in the C-terminal domain identified in family members with juvenile PD and epilepsy. PMID: 30187305
    2. Excess of rare putative functional variants at SYNJ1 in schizophrenia. PMID: 28421333
    3. This study identified a novel homozygous missense mutation (c.1376C > G, p.Arg459Pro) in SYNJ1 in an ARJP family from eastern India. PMID: 27496670
    4. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses PMID: 28231468
    5. Thus, synaptojanin is essential for macroautophagy within presynaptic terminals, coupling protein turnover with synaptic vesicle cycling and linking presynaptic-specific autophagy defects to Parkinson's disease. PMID: 28331029
    6. SYNJ1 deficiency leads to early onset refractory seizures and progressive neurological decline. PMID: 27435091
    7. Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population. PMID: 26149920
    8. This study demonstrated that SYNJ1 was significantly higher in Down syndrome and correlated with several measures of Abeta. SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease. PMID: 24927707
    9. Studying PD genes as a network regulating synaptic activity could bring insight into understanding the neuropathological processes of PD and help identify new genes at fault in this devastating disorder. PMID: 25302295
    10. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. PMID: 24816432
    11. the clinical progression of the Italian siblings with SYNJ1-related early-onset atypical parkinsonism seems to present a more severe progression in the early stages PMID: 24532203
    12. Our data suggest that the previously reported Arg258Gln mutation in SYNJ1 is not a frequent cause of Parkinson disease PMID: 24609975
    13. This review presented that SYNJ1 in recessive forms of juvenile parkinsonism. PMID: 24262182
    14. Findings suggest that SYNJ1 mutation is responsible for the early-onset Parkinsonism phenotype probably due to deficiencies in its phosphatase activity and consequent impairment of its synaptic functions. PMID: 23804563
    15. Results indicate that SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis. PMID: 23804577
    16. a novel mechanism by which reduction of a PI(4,5)P2-degrading enzyme, synj1, improves amyloid-induced neuropathology and behavior deficits through accelerating cellular Abeta clearance. PMID: 24052255
    17. Trisomy for SYNJ1 in Down syndrome is functionally linked to the enlargement of early endosomes. PMID: 22511594
    18. Synj1 reduction ameliorates AD-associated behavioral and synaptic deficits, providing evidence that Synj1 and, more generally, phosphoinositide metabolism may be promising therapeutic targets PMID: 23115165
    19. SYNJ1 gene is linked to bipolar disorder PMID: 15261714
    20. Data show that in the presence of SNX9, synaptojanin-1 is able to colocalize with distinct ACK1 containing vesicles. PMID: 16137687

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  • 相关疾病：
    Parkinson disease 20, early-onset (PARK20); Epileptic encephalopathy, early infantile, 53 (EIEE53)
  • 亚细胞定位：
    Cytoplasm, perinuclear region.
  • 蛋白家族：
    Synaptojanin family; Inositol 1,4,5-trisphosphate 5-phosphatase family
  • 组织特异性：
    Concentrated at clathrin-coated endocytic intermediates in nerve terminals. Isoform 1 is more enriched than isoform 2 in developing brain as well as non-neuronal cells. Isoform 2 is very abundant in nerve terminals.
  • 数据库链接：

    HGNC: 11503

    OMIM: 604297

    KEGG: hsa:8867

    STRING: 9606.ENSP00000409667

    UniGene: Hs.473632