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  4. Recombinant Human Guanine nucleotide-binding protein G (o) subunit alpha (GNAO1)

Recombinant Human Guanine nucleotide-binding protein G (o) subunit alpha (GNAO1)

  • 货号：
    CSB-YP009593HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP009593HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP009593HU-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-BP009593HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP009593HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    DKFZp686O0962; G alpha o; G protein alpha 0; Galphao; GNAO 1; GNAO; GNAO_HUMAN; GNAO1; Go alpha; Guanine nucleotide binding protein (G protein) alpha activating activity polypeptide O; Guanine nucleotide binding protein alpha activating polypeptide ; Guanine nucleotide binding protein G(o) subunit alpha; Guanine nucleotide-binding protein G(o) subunit alpha
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-354
  • 氨基酸序列
    GCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV KQMKIIHEDG FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER KADAKMVCDV VSRMEDTEPF SAELLSAMMR LWGDSGIQEC FNRSREYQLN DSAKYYLDSL DRIGAADYQP TEQDILRTRV KTTGIVETHF TFKNLHFRLF DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET TNRMHESLML FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG CGLY
  • 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：
    Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.
  • 基因功能参考文献：
    1. first report of siblings of opposite sex harboring the same GNAO1 mutation but showing differences in phenotype with pronounced dystonia in the boy and epilepsy in his sister. PMID: 28628939
    2. GNAO1 transcription was inhibited by promoter hypermethylation, contributing to its low expression. It was further revealed that the silencing effect was regulated by methyltransferase 1 (DNMT1), and was further enhanced by transforming growth factor beta (TGF-beta). PMID: 29709639
    3. Taken together, the data presented here suggest that TLR2 activation in human mast cells promotes the release of inflammatory mediators via distinct signaling pathways that partially depend on the action of Go proteins. PMID: 27515449
    4. Study identified distinct biochemical mechanisms of pathogenic human GNAO1 mutations that may improve the understanding of the heterogeneous clinical spectrum of GNAO1-associated epilepsy and movement disorders. Furthermore, these results also carry significant implications for personalized therapeutics in GNAO1 encephalopathies. PMID: 28747448
    5. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. PMID: 28202424
    6. s report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1 PMID: 26060304
    7. Phenotypic spectrum of novel GNAO1 variants in four unrelated female patients included epileptic encephalopathy and involuntary movements with severe developmental delay. PMID: 25966631
    8. GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. The novel pathogenic variant identified in should contribute to our understanding of the expanding spectrum of infantile-onset epilepsy. PMID: 26485252
    9. Endothelial cells in capillary malformations are enriched for GNAQ mutations and are likely responsible for the pathophysiology underlying capillary malformation. PMID: 26368330
    10. Galphao-R243H has a mild decrease in nucleotide affinity that causes rapid nucleotide turnover and subsequent hyperactivity in cancer PMID: 24982418
    11. Genetic variants of BCL2, GNAO1, and CHD2 are associated with non-obstructive azoospermia risk. PMID: 24549219
    12. the present study is the first to demonstrate that GNAO1 is overexpressed in GC and that its overexpression correlates with poor prognosis, as it promotes gastric cancer cell viability. PMID: 24366063
    13. Down-regulation of GNAO1 increases cell proliferation, while suppressing the senescence of hepatocellular carcinoma cells. PMID: 23984917
    14. These data suggest that aberrant Galphao signaling can cause multiple neurodevelopmental phenotypes, including epileptic encephalopathy and involuntary movements. PMID: 23993195
    15. CKbeta8- and CKbeta8-1-induced activation of ERK1/2 is mediated by the G(i)/G(o) protein, PLC, and PKCdelta. PMID: 20097574
    16. a novel role in the signal transduction of thrombin receptors in HMECs (human microvascular endothelial cells) that regulates calcium signaling and cytoskeletal rearrangements PMID: 12039967
    17. study suggests that one of the functions of Goalpha in the brain is to mediate extracellular signal-regulated kinase activation by G protein-coupled receptors PMID: 12911629
    18. Activated Goalpha interacted directly with PLZF, and enhanced its function as a transcriptional and cell growth suppressor. PMID: 18262754
    19. the successful purification of functionally intact Gbeta5-free recombinant RGS11 was reported that differentially interact with R7BP and Galpha(oa). PMID: 19497306

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  • 相关疾病：
    Epileptic encephalopathy, early infantile, 17 (EIEE17); Neurodevelopmental disorder with involuntary movements (NEDIM)
  • 亚细胞定位：
    Cell membrane. Membrane; Lipid-anchor.
  • 蛋白家族：
    G-alpha family, G(i/o/t/z) subfamily
  • 数据库链接：

    HGNC: 4389

    OMIM: 139311

    KEGG: hsa:2775

    STRING: 9606.ENSP00000262493

    UniGene: Hs.644524