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  4. Recombinant Human Magnesium transporter NIPA1 (NIPA1), partial

Recombinant Human Magnesium transporter NIPA1 (NIPA1), partial

  • 中文名称：
    人NIPA1重组蛋白
  • 货号：
    CSB-YP742399HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人NIPA1重组蛋白
  • 货号：
    CSB-EP742399HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人NIPA1重组蛋白
  • 货号：
    CSB-EP742399HU-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NIPA1重组蛋白
  • 货号：
    CSB-BP742399HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人NIPA1重组蛋白
  • 货号：
    CSB-MP742399HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    NIPA1
  • Uniprot No.：
  • 别名：
    FSP 3; FSP3; Magnesium transporter NIPA1; MGC102724; MGC35570; NIPA 1; NIPA1; NIPA1_HUMAN; Non imprinted in Prader Willi/Angelman syndrome region protein 1; Non-imprinted in Prader-Willi/Angelman syndrome region protein 1; Spastic paraplegia 6 (autosomal dominant); Spastic paraplegia 6 protein; SPG 6; SPG6
  • 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：
    Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+).
  • 基因功能参考文献：
    1. we employed an shRNA-encoding lentivirus system to inhibit SPG6 expression in AML cells including NB4 and MV4-11cells. Knockdown expression of SPG6 resulted in decreased cell growth and elevated apoptosis of these leukemia cells. Notably, SPG6 deficiency resulted in higher BMPR2 expression indicating that BMPR2 signaling contributes to AML pathogenesis. PMID: 29715457
    2. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
    3. NIPA1 repeat expansion in the context of a C9orf72 repeat expansion would drive toward a motor neuron disease phenotype. PMID: 26777436
    4. We report here a family with a pure form of Hereditary spastic paraplegia due to a de novo transition mutation in the NIPA1 gene. PMID: 25133278
    5. study reports direct evidence of de novo c.316G>A mutation in the same hotspot of the gene in two unrelated patients who had otherwise a prototypical NIPA1-associated phenotype with a severe form of uncomplicated spastic paraplegia PMID: 24075313
    6. NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course PMID: 22378146
    7. Epilepsy might be more common in spastic paraplegia type 6 than in other forms of Hereditary spastic paraplegia because of a genetic risk factor closely linked to NIPA1. PMID: 21599812
    8. One heterozygous missense mutation of NIPA1 was identified in a complicated form of hereditary spastic paraplegia type 6 family with peripheral nerves disease PMID: 21419568
    9. a genome-wide association study of amyotrophic lateral sclerosis identified the NIPA1 locus as a candidate for more in-depth studies PMID: 20685689
    10. discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant hereditary spastic paraplegia PMID: 14508710
    11. novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia PMID: 15711826
    12. NIPA1 normally encodes a Mg2+ transporter and the loss-of function of NIPA1(SPG6) due to abnormal trafficking of the mutated protein provides the basis of the hereditary spastic paraplegia phenotype PMID: 17166836
    13. Amino acid substitution mutations implicated in a family with autosomal dominant spastic paraplegia. PMID: 17205300
    14. utations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia and further demonstrates genotype-phenotype correlations in SPG6 PMID: 17928003
    15. We propose that Hereditary spastic paraplegia-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the endoplasmic reticulum accumulation of toxic NIPA1 proteins. PMID: 19091982
    16. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation. PMID: 19620182

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  • 相关疾病：
    Spastic paraplegia 6, autosomal dominant (SPG6)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Early endosome.
  • 蛋白家族：
    NIPA family
  • 组织特异性：
    Widely expressed with highest levels in neuronal tissues.
  • 数据库链接：

    HGNC: 17043

    OMIM: 600363

    KEGG: hsa:123606

    STRING: 9606.ENSP00000337452

    UniGene: Hs.511797