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  4. Recombinant Human Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1)

Recombinant Human Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1)

  • 中文名称：
    人NMNAT1重组蛋白
  • 货号：
    CSB-EP864012HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    NMNAT1
  • Uniprot No.：
  • 别名：
    EC 2.7.7.1; LCA9; Leber's congenital amaurosis 9; NaMN adenylyltransferase 1; nicotinamide nucleotide adenylyltransferase 1; Nicotinamide-nucleotide adenylyltransferase 1; Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; nicotinate nucleotide adenylyltransferase 1; Nicotinate-nucleotide adenylyltransferase 1; NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NMNA1_HUMAN; Nmnat 1; Nmnat1; OTTHUMP00000001731; OTTHUMP00000001732; OTTHUMP00000035892; PNAT 1; PNAT1; pyridine nucleotide adenylyltransferase 1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length
  • 来源：
    E.coli
  • 分子量：
    58.9kDa
  • 表达区域：
    1-279aa
  • 氨基酸序列
    MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal GST-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：
    Tris-based buffer,50% glycerol
  • 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：
    Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5. Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following mechanical or toxic insults.
  • 基因功能参考文献：
    1. Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively. PMID: 29184169
    2. Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene. PMID: 28369829
    3. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. PMID: 26316326
    4. We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state. PMID: 26464178
    5. NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1 PMID: 25988908
    6. To study how mutations affect NMNAT1 function and ultimately lead to a retinal degeneration phenotype, we performed detailed analysis of Leber congenital amaurosis 9-associated NMNAT1 mutants. PMID: 26018082
    7. theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA) in combination with more severe NMNAT1 variants. PMID: 24830548
    8. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. PMID: 24940029
    9. NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis. PMID: 23737528
    10. mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis PMID: 23351689
    11. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. PMID: 22842229
    12. A new disease mechanism underlying Leber congential amaurosis and the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder. PMID: 22842230
    13. Our studies link the enzymatic activities of NMNAT-1 and PARP-1 to the regulation of a set of common target genes through functional interactions at target gene promoters. PMID: 22334709
    14. Study investigated the importance of NMNAT2's central domain, which are postulated to be dispensable for catalytic activity, instead representing an isozyme-specific control domain within the overall architecture of NMNAT2. PMID: 20954240
    15. nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons blocks axonal degeneration PMID: 21071441
    16. Neuronal expression of exogenous Nmnat1 protein localized to the cytosol is essential and sufficient to delay Wallerian degeneration; cytosolic Nmnat1 showed greatly enhanced axon protection compared with native (nuclear) Nmnat1. PMID: 19458223
    17. Axonal targeting of transgenic NMNAT activity is both necessary and sufficient to delay Wallerian degeneration; promoting axonal and synaptic delivery greatly enhances NMNAT1 effectiveness. PMID: 20926655
    18. Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent. PMID: 20457531
    19. analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases PMID: 20388704
    20. By using a combination of single isomorphous replacement and density modification techniques, the human NMNAT structure was solved by x-ray crystallography to a 2.5-A resolution, revealing a hexamer that is composed of alpha/beta-topology subunits PMID: 11751893
    21. structure determination and role in activating tiazofurin PMID: 11788603
    22. Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. PMID: 11959140
    23. structural characterization of this human cytosolic enzyme and implicatons in NAD biosyntheesis PMID: 12574164
    24. NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria PMID: 16118205
    25. depending on its state of phosphorylation, NMNAT-1 binds to activated, automodifying PARP-1 and thereby amplifies poly(ADP-ribosyl)ation PMID: 17360427
    26. ATP binds before NMN with nuclear isozyme NMNAT1. NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates, conversion by NMNAT2 is much slower. PMID: 17402747
    27. Nicotinamide mononucleotide adenylyl transferase 1 (Nmnat1) is important for axonal protection, since mutants with reduced enzymatic activity lack axon protective activity. PMID: 19403820

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  • 相关疾病：
    Leber congenital amaurosis 9 (LCA9)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Eukaryotic NMN adenylyltransferase family
  • 组织特异性：
    Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain.
  • 数据库链接：

    HGNC: 17877

    OMIM: 608553

    KEGG: hsa:64802

    STRING: 9606.ENSP00000366410

    UniGene: Hs.633762