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NHLRC1 Antibody

  • 货号：
    CSB-PA740936LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA740936LA01HU diluted at 1:140 and staining in paraffin-embedded human brain tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit IgG labeled by HRP and visualized using 0.05% DAB.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) NHLRC1 Polyclonal antibody
  • Uniprot No.：
    Q6VVB1
  • 基因名：
  • 别名：
    E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1), NHLRC1, EPM2B
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human E3 ubiquitin-protein ligase NHLRC1 protein (86-395aa)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，NHLRC1 Antibody (CSB-PA740936LA01HU)，的标记方式是Non-conjugated。对于NHLRC1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA740936LB01HU NHLRC1 Antibody, HRP conjugated ELISA
    FITC CSB-PA740936LC01HU NHLRC1 Antibody, FITC conjugated
    Biotin CSB-PA740936LD01HU NHLRC1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:100-1:500
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.
  • 基因功能参考文献：
    1. Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin monomer. PMID: 26648032
    2. laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2 PMID: 26493215
    3. Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. PMID: 26102034
    4. This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients. PMID: 25270369
    5. Without functional laforin-malin complex assembled on polyglucosan bodies, polyglucosan is not degraded. PMID: 24068615
    6. Malin regulates the recruitment of mRNA-decapping enzyme 1A (Dcp1a) to processing bodies. PMID: 23131811
    7. Malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved in glycogen metabolism and misregulation of pathways involved in this process results in Lafora body formation. (Review) PMID: 22815132
    8. This study identified that NHLRC1 gene mutations leading to Lafora disease in six Turkish families. PMID: 22047982
    9. Our results indicate that malin regulates Wnt signaling pathway through the degradation of dishevelled2 and suggest possible deregulation of Wnt signaling in Lafora disease. PMID: 22223637
    10. Mutations in the NHL repeat containing 1 (NHLRC1) gene are described in association with a more benign clinical course and later age of death in an adolescent patient. PMID: 21555062
    11. Laforin and malin are defective in Lafora disease (LD), a neurodegenerative disorder associated with epileptic seizures PMID: 21652633
    12. malin(C46Y), malin(P69A), malin(D146N), and malin(L261P) mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. PMID: 21505799
    13. malin negatively regulates neuronatin and its loss of function in Lafora disease results in increased accumulation of neuronatin PMID: 21742036
    14. Malin is related to TRIM32 at both the phylogenetic and functional level. PMID: 21798009
    15. study described several novel mutations of EPM2A and NHLRC1 and brought additional data to genetic epidemiology of Lafora disease (LD); emphasized the high mutation rate in patients with classical LD as well as the high negativity rate of skin biopsy PMID: 20738377
    16. These results suggest that the modification introduced by the laforin-malin complex could affect the subcellular distribution of AMPK beta subunits. PMID: 20534808
    17. the co-chaperone carboxyl terminus of the Hsc70-interacting protein (CHIP) stabilizes malin by modulating the activity of Hsp70. PMID: 19892702
    18. Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy PMID: 12958597
    19. Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B. Patients with mutations in EPM2A and EPM2B express similar clinical manifestation. PMID: 15781812
    20. Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. PMID: 15930137
    21. Malin is an E3 ubiquitin ligase that binds glycogen synthase. PMID: 16115820
    22. Patients with NHLRC1 mutations have a slower rate of disease progression than those with EPM2A mutations. PMID: 16950819
    23. Defects in malin may lead to increased levels of misfolded and/or target proteins, which may eventually affect the physiological processes of the neuron, and likely to be the primary trigger in the physiopathology of lafora disease. PMID: 17337485
    24. Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase complex pathway. PMID: 18029386
    25. malin ubiquitinates PTG in a laforin-dependent manner, both in vivo and in vitro, and targets PTG for proteasome-dependent degradation. These results suggest an additional mechanism, involving laforin and malin, in regulating glycogen metabolism PMID: 18070875
    26. The s identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The s show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset and death. PMID: 18263761
    27. Results suggest that the altered subcellular localization of mutant proteins of the EPM2A and NHLRC1 genes could be one of the molecular bases of the Lafora disease phenotype. PMID: 18311786
    28. Laforin and malin interact with misfolded proteins and promote their degradation through the ubiquitin-proteasome system. PMID: 19036738
    29. phosphorylation of R5/PTG at Ser-8 by AMPK accelerates its laforin/malin-dependent ubiquitination and subsequent proteasomal degradation, which results in a decrease of its glycogenic activity. PMID: 19171932
    30. Results describe a novel homozygous single-nucleotide variant in the NHLRC1 gene in a Malian consanguineous family. PMID: 19322595
    31. laforin and malin play a role protecting cells from ER-stress, likely contributing to the elimination of unfolded proteins PMID: 19529779
    32. Meta-analysis of gene-disease association. (HuGE Navigator) PMID: 19267391
    33. The phosphatase laforin acts as a scaffold that allows malin to ubiquitinate protein targeting to glycogen (PTG). These results suggest an additional mechanism, involving laforin and malin, in regulating glycogen metabolism. PMID: 18070875

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  • 相关疾病：
    Epilepsy, progressive myoclonic 2 (EPM2)
  • 亚细胞定位：
    Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.
  • 组织特异性：
    Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
  • 数据库链接：

    HGNC: 21576

    OMIM: 254780

    KEGG: hsa:378884

    STRING: 9606.ENSP00000345464

    UniGene: Hs.348351