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Recombinant Human Atlastin-1 (ATL1)

  • 中文名称：
    Recombinant Human Atlastin-1(ATL1)
  • 货号：
    CSB-CF855500HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    ATL1
  • Uniprot No.：
  • 别名：
    ATL1; GBP3; SPG3A; Atlastin-1; Brain-specific GTP-binding protein; GTP-binding protein 3; GBP-3; hGBP3; Guanine nucleotide-binding protein 3; Spastic paraplegia 3 protein A
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-558
  • 氨基酸序列
    MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSE AVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERET TGIQIWSEIFLINKPDGKKVAVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQ NVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEFSYGADGGAKFLEKRL KVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKIL IPWLLSPESLDIKEINGNKITCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAV ATAKDTYNKKMEEICGGDKPFLAPNDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQ LESEIDELYIQYIKHNDSKNIFHAARTPATLFVVIFITYVIAGVTGFIGLDIIASLCNMI MGLTLITLCTWAYIRYSGEYRELGAVIDQVAAALWDQGSTNEALYKLYSAAATHRHLYHQ AFPTPKSESTEQSEKKKM
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-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：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.
  • 基因功能参考文献：
    1. These results suggest that SOCE plays an important role in neuronal regeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE. PMID: 28240257
    2. Variants in the ATL1 gene are a less frequent cause of hereditary spastic paraplegia among Czech patients than has been previously reported among other populations. PMID: 28736820
    3. This study demonstrated that ATL1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
    4. The results suggest that tethering and lipid mixing are catalyzed concurrently by atlastin GTPase hydrolysis but that the energy requirement for lipid mixing exceeds that for tethering, and the full energy released through crossover formation is necessary for fusion. PMID: 28356327
    5. that Atlastin 1 mutations may cause autosomal recessively inherited paraplegia with an underlying loss-of-function mechanism. Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene. PMID: 26888483
    6. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
    7. 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
    8. Novel splicing pathogenic variants were identified in ATL1 genes of Korean patients with hereditary spastic paraplegia. PMID: 26208798
    9. a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for hereditary spastic paraplegia causation. PMID: 25761634
    10. purified and reconstituted human ATL1 exhibited no in vitro fusion activity. When the cytosolic segment of human ATL1 was connected to the transmembrane (TM) region and C-terminal tail (CT) of Drosophila ATL PMID: 25407413
    11. 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
    12. Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of Hereditary spastic paraplegias, whereas heterozygous carriers are asymptomatic. PMID: 24473461
    13. These data suggest that the C-terminal tail of Atlastin locally destabilizes bilayers to facilitate membrane fusion. PMID: 25555915
    14. The atlastin-mediated fusion of ER membranes is important for LD size regulation. PMID: 23684613
    15. The hydrophobic domains of protrudin likely adopt hairpin topologies, similar to those in the atlastins, as well as the ER-shaping reticulons and REEPs. Protrudin interacts with these protein families through the hydrophobic segments. PMID: 23969831
    16. Three novel ATL1 mutations are identified in a cohort of patients with upper motor neuron syndrome. PMID: 23108492
    17. frontal glucose hypometabolism was associated with frontal cognitive impairment indicating that widespread neuropathology associated with mutations in the SPG3A gene PMID: 23233086
    18. these results further supports the role of the atlastin-1 of BMP signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of hereditary spastic paraplegia. PMID: 23079343
    19. The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy. PMID: 22340599
    20. The cytoplasmic domain of atlastin acts as a tether and homotypic interactions are timed by GTP binding and hydrolysis. PMID: 23334294
    21. increasing the distance of atlastin complex formation from the membrane inhibits fusion, suggesting that this distance is crucial for atlastin to promote fusion PMID: 21930898
    22. previously unreported autosomal dominant mutations in the atlastin gene in hereditary spastic paraplegia PMID: 20718791
    23. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. PMID: 21321493
    24. experiments also show that membrane fusion is facilitated by the C-terminal cytosolic tails following the two transmembrane segments. Finally, our results show that mutations in ATL1 causing hereditary spastic paraplegia compromise homotypic ER fusion PMID: 21368113
    25. a model for nucleotide-dependent regulation of atlastin with implications for membrane fusion. This mechanism is affected in several mutants associated with HSP, providing insights into disease pathogenesis. PMID: 21220294
    26. This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies hereditary sensory neuropathy type I and Spastic paraplegia 3, autosomal dominant as allelic disorders. PMID: 21194679
    27. In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases PMID: 20932283
    28. Data report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy resembling diplegic cerebral palsy. PMID: 19735987
    29. a new mutation in SPG3A in Italian family manifesting a complex phenotype characterized by cerebellar involvement and amyotrophic lateral sclerosis-like syndrome PMID: 19768483
    30. Hereditary spastic paraplegias (HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics. PMID: 20200447
    31. study describes two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A PMID: 19730024
    32. This study identified a novel SPG3A mutation (L157W) in the proband and her affected child. PMID: 16533974
    33. This study reports a novel mutation in the SPG3A gene in a family with spastic paraplegia, further confirming that mutations in this gene cause autosomal dominant hereditary spastic paraplegia. PMID: 12112092
    34. interaction with NIK/HGK PMID: 12387898
    35. identification as a multimeric integral membrane GTPase that may be involved in Golgi membrane dynamics or vesicle trafficking PMID: 14506257
    36. The R239C mutation was found to co-segregate with autosomal dominant hereditary spastic paraplegia (ADHSP) in one English ADHSP family confirming a widespread prevalence for this commonly occurring mutation PMID: 14607301
    37. In a family with autosomal dominant spastic paraplegia, heterozygous substitution in exon 12 exchanges arginine for tryptophan at position 415 (R415W) abolishing an MSP I recognition site (CC'GG). PMID: 15184642
    38. This paper report a novel mutation in the SPG3A gene in an African American family with an infantile onset of autosomal dominant hereditary spastic paraplegia. PMID: 15477516
    39. Three novel mutations were found in exons 4, 9, and 12 of the atlastin gene and the common R239C mutation located in exon 7 was confirmed in a 7th family of European origin PMID: 15517445
    40. All mutations of atlastin1 in young-onset autosomal dominant spastic paraplegia patients in France were found in exons 7, 8, 12, and 13. These exons should be given priority when performing molecular diagnoses for SPG3A. PMID: 15596607
    41. This study report a new atlastin(R495W) mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family. PMID: 15742100
    42. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. PMID: 16339213
    43. Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). PMID: 16401858
    44. Interaction between atlastin and spastin may define a cellular biological pathway that is important in axon maintenance, the failure of which may be pathogenetically relevant. PMID: 16815977
    45. Atlastin plays a role in vesicle trafficking in the ER/Golgi interface PMID: 17321752
    46. This study identified Y469C mutation in SPG3A in Japanese family with hereditary spastic paraplegia. PMID: 17380240
    47. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified which affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. PMID: 17427918
    48. Mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. PMID: 17502470
    49. identification of one novel and one known SPG3A mutation in screening 20 families and 23 sporadic cases of hereditary spastic paraplegia in Chinese Han population PMID: 17531128
    50. We describe a severe case of herediatry spastic paraplegia, extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype. PMID: 18446315

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  • 相关疾病：
    Spastic paraplegia 3, autosomal dominant (SPG3); Neuropathy, hereditary sensory, 1D (HSN1D)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, axon.
  • 蛋白家族：
    TRAFAC class dynamin-like GTPase superfamily, GB1/RHD3-type GTPase family, GB1 subfamily
  • 组织特异性：
    Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the c
  • 数据库链接：

    HGNC: 11231

    OMIM: 182600

    KEGG: hsa:51062

    STRING: 9606.ENSP00000351155

    UniGene: Hs.584905