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  4. Recombinant Human Spastin (SPAST), partial

Recombinant Human Spastin (SPAST), partial

  • 货号：
    CSB-YP022488HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP022488HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP022488HU-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-BP022488HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP022488HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SPAST
  • Uniprot No.：
  • 别名：
    SPAST; ADPSP; FSP2; KIAA1083; SPG4; Spastin; EC 5.6.1.1; Spastic paraplegia 4 protein
  • 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：
    ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex. Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex. Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling. Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing. Probably plays a role in axon growth and the formation of axonal branches.; Involved in lipid metabolism by regulating the size and distribution of lipid droplets.
  • 基因功能参考文献：
    1. The findings suggest a mechanism for neurodegeneration in hereditary spastic paraplegia whereby SPAST mutations indirectly lead to impaired peroxisome transport and oxidative stress. PMID: 27229699
    2. study to explore the novel SPAST splice site donor variant, c.1004+3A>C in spastic paraplegia type 4; Exon 6 is skipped out by the variant, leading to premature termination of translation, p.Gly290Trpfs*5; measurement of SPAST transcripts in lymphocytes demonstrated reduction through nonsense-mediated mRNA decay PMID: 28870597
    3. Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia PMID: 29368828
    4. The N184X mutation triggers the reinitiation of translation at a third start codon in SPAST, resulting in synthesis of a novel M187 spastin isoform that is able to sever microtubules. PMID: 28495799
    5. Our data reveal a high rate of complex cases (25%), with psychiatric disorders among the most common comorbidity (10% of all SPASTpatients). Further, we identify a genotype-phenotype correlation between patients carrying loss-of-function mutations in SPAST and the presence of psychiatric disorders. PMID: 28572275
    6. Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece. PMID: 26374131
    7. Two distinct Alu insertion-associated deletions in the SPAST gene cause hereditary spastic paraplegia type SPG4. PMID: 26932189
    8. The data of this study confirmed the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms. PMID: 27260292
    9. We report the first genetic study of uncomplicated HSP patients from the Czech Republic. We found broad mutation spectrum in 13 from the 17 coding exons and adjacent regions of the SPAST gene. We detected 21 novel presumably pathogenic mutations. The high frequency of SPAST mutations was found only in familial patients. PMID: 27334366
    10. This study demonstrted that the most frequently affected gene was SPAST with pathogenic or likely pathogenic mutations in hereditary spastic paraplegia. PMID: 27084228
    11. This study demonstrated that SPAST gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
    12. We identified two novel mutations and two previously reported mutations in SPAST and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission PMID: 26600529
    13. Using human-engineered and differentially modified microtubules study finds that glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzyme spastin. PMID: 26875866
    14. Patients with deletions of exons in the SPAST gene showed pure hereditary spastic paraplegia. PMID: 26165777
    15. Novel SPAST pathogenic variants were identified in Korean patients with hereditary spastic paraplegia. PMID: 26208798
    16. The coexistence of mutations in SPAST and FSHD was confirmed in our proband and in two siblings PMID: 25511172
    17. The spastin as a microtubule-severing protein was an important mechanistic breakthrough, it seems certain that insufficient microtubule severing alone is not an adequate explanation for HSP-SPG4. PMID: 26094131
    18. SPAST mutations are common in Chinese patients with pure hereditary spastic paraplegia PMID: 24824479
    19. Data showed 3 micro-mutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene in this cohort of Chinese patients with spastic paraplegia. PMID: 25454648
    20. NA14 may act as an adaptor protein regulating SPG4 localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of SPG4 that is particularly critical during the cell cycle and neuronal development. PMID: 25390646
    21. ESCRT-III, VPS4 and spastin cooperate to coordinate nuclear envelope sealing and spindle disassembly at nuclear envelope-microtubule intersection sites during mitotic exit to ensure nuclear integrity and genome safeguarding PMID: 26040712
    22. SPG4 appears to be the major cause of hereditary spastic paraplegia in Tuscany. PMID: 24731568
    23. This study reported a novel splice-site mutation, c.1098+1~2GT-->CTCAGA, in the AAA domain of SPG4 in a Chinese family with pure autosomal dominant hereditary spastic paraplegia. PMID: 24659419
    24. four novel mutations were identifiedin SPAST/SPG4. PMID: 24033003
    25. analys of deletion mutation of SPAST in hereditary spastic paraplegias, correlation with increased tendon reflexes in the lower limbs and Babinski sign PMID: 24824741
    26. Neurite complexity and maintenance in hereditary spastic paraplegia patient-derived neurons are critically sensitive to spastin gene dosage. PMID: 24381312
    27. the Alu genomic architecture of SPAST predisposes to diverse intragenic copy-number variants alleles with distinct transcriptional--and possibly phenotypic--consequences. PMID: 25065914
    28. successful establishment of human pluripotent stem cell-based neuronal models of SPG4, which will be valuable for dissecting the pathogenic cellular mechanisms and screening compounds to rescue the axonal degeneration in hereditary spastic paraplegias PMID: 24123785
    29. This study identified the genetic cause in approximately 25 % of patients in this sample; this is a high proportion of cases, given that one of the most common causes of HSP (SPG4) had already been excluded. PMID: 23812641
    30. Our study enlarges the number of pathogenic SPAST mutations, and confirms the association with a pure spastic paraplegia phenotype PMID: 22960362
    31. This study demonistrated that toxicity of mutant spastin proteins, especially mutant M1, contributes to axonal degeneration in the corticospinal tracts. PMID: 24478365
    32. a novel 14-bp heterozygous deletion that induced a frameshift mutation in exon 15 of SPAST is predicted to have functional impact and found to cosegregate with the disease phenotype of hereditary spastic paraplegia PMID: 23716148
    33. The results suggest that inclusion of IST1 into the ESCRT complex allows recruitment of spastin to promote fission of recycling tubules from the endosome. PMID: 23897888
    34. Data suggest that ATP-bound SPG4 interacts strongly/cooperatively with microtubules; this interaction stimulates ATP hydrolysis by SPG4; SPG4 then dissociates from microtubules and exchanges ADP for ATP in solution for next round/cycle. PMID: 23745751
    35. Patients with SPG4-related hereditary spastic paraplegia are not found to have ophthalmological manifestations. PMID: 23238845
    36. Compared to control cells, patient-derived cells had 50% spastin, 50% acetylated alpha-tubulin and 150% stathmin, a microtubule-destabilizing enzyme. PMID: 23264559
    37. micro-rearrangements in the SPAST gene are a fairly frequent cause of hereditary spastic paraplaegia PMID: 22203332
    38. study concludes that SPAST mutations are responsible for the majority of hereditary spastic paraplegia (HSP) in Australia; most of the patients with SPAST mutations had pure forms of HSP and a positive family history to suggest autosomal dominant HSP PMID: 23252998
    39. analysis of spastin's microtubule-binding properties and comparison with katanin PMID: 23272056
    40. The results of this study a a SPG4 mutation was higher than for patients with SPG3 mutations in patients with Autosomal dominant spastic paraplegias. PMID: 23400676
    41. Data report here the 3.3 A X-ray crystal structure the AAA domain of human spastin (SPG4) and show that, despite amino acid differences in a number of key residues, the human and D. melanogaster spastin structures are highly conserved. PMID: 22446388
    42. findings indicate that protrudin interacts with spastin and induces axon formation through its N-terminal domain; protrudin and spastin may work together to play an indispensable role in motor axon outgrowth PMID: 22573551
    43. wild type spastin is even more sensitive toward the presence of inactive mutants than in enzymatic assays, suggesting a weak coupling of ATPase and severing activity. PMID: 22637577
    44. transcriptional and post-transcriptional regulation of SPAST PMID: 22574173
    45. Peripheral neuropathy occurs in hereditary spastic paraplegia patients with SPG4 mutations. PMID: 22192498
    46. We identified seven different spastin mutations in five probands and one sporadic patient with Hereditary spastic paraplegia PMID: 21834905
    47. Spastin was identified as a novel component of the HOXA10 transcriptional complex in Ishikawa nuclear extracts. PMID: 21757506
    48. The results of this study showed that consistent with data suggesting that SPAST mutations mostly cause a pure HSP phenotype. PMID: 21546041
    49. previously unreported autosomal dominant mutations in the spastin gene in hereditary spastic paraplegia PMID: 20718791
    50. A higher level (78.8 +/- 3.9%) of functional spastin than the expected ratio of 50% owing to leaky splicing might cause late age at onset of hereditary spastic paraplegia. PMID: 20491894

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  • 相关疾病：
    Spastic paraplegia 4, autosomal dominant (SPG4)
  • 亚细胞定位：
    Membrane; Peripheral membrane protein. Endoplasmic reticulum. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm.; [Isoform 1]: Endoplasmic reticulum membrane; Peripheral membrane protein. Nucleus membrane. Lipid droplet. Cytoplasm, cytoskeleton. Endosome.; [Isoform 3]: Cytoplasm. Endosome. Nucleus membrane.
  • 蛋白家族：
    AAA ATPase family, Spastin subfamily
  • 组织特异性：
    Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord.
  • 数据库链接：

    HGNC: 11233

    OMIM: 182601

    KEGG: hsa:6683

    STRING: 9606.ENSP00000320885

    UniGene: Hs.468091