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  4. Recombinant Human FYVE, RhoGEF and PH domain-containing protein 1 (FGD1), partial

Recombinant Human FYVE, RhoGEF and PH domain-containing protein 1 (FGD1), partial

  • 中文名稱：
    人FGD1重組蛋白
  • 貨號：
    CSB-YP008609HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人FGD1重組蛋白
  • 貨號：
    CSB-EP008609HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人FGD1重組蛋白
  • 貨號：
    CSB-EP008609HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    人FGD1重組蛋白
  • 貨號：
    CSB-BP008609HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人FGD1重組蛋白
  • 貨號：
    CSB-MP008609HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    AAS; Faciogenital dysplasia 1 protein; FGD1; FGD1_HUMAN; FGDY; FYVE RhoGEF and PH domain containing protein 1; FYVE; RhoGEF and PH domain-containing protein 1; Rho/Rac GEF; Rho/Rac guanine nucleotide exchange factor FGD1; ZFYVE3; Zinc finger FYVE domain containing protein 3; Zinc finger FYVE domain-containing protein 3
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.
  • 基因功能參考文獻：
    1. Sequencing analyses in numerous types of cancer have found missense mutations in the FGD1 gene in metastatic tumors. PMID: 27199457
    2. A novel variant in FGD1 (a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous) was found in an Emirati family with two brothers suffering from Aarskog-Scott syndrome. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates. PMID: 28103835
    3. Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel. PMID: 27544718
    4. Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition. PMID: 24770546
    5. No significant association was observed between IDD and allele or genotype frequencies, or the haplotype of the 5 SNPs of the FGD1 gene in the Chinese population. PMID: 24446295
    6. branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome PMID: 23169394
    7. Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome. PMID: 23443263
    8. A novel mutation in exon 6 (G1341A substituting tryptophan with a stop codon at amino acid position 447) may have influenced the clinical phenotype of these 5 patients with Aarskog-Scott syndrome. PMID: 23211637
    9. Authors discuss the hypothesis that FGD1 might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings. PMID: 22854039
    10. The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development. PMID: 22876573
    11. This is the first report of inheritance by germline mosaicism for the FGD1 gene PMID: 21739585
    12. These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis. PMID: 21356349
    13. This study showed that the proline-rich doman of FGD1 is critical for persistent cell migration; FGD1 also augments EGF-stimulated c-Jun NH(2)-terminal kinase (JNK) activation. PMID: 21212517
    14. Mutations in the FGD1 gene is not associated with Aarskog syndrome. PMID: 20607856
    15. analysis of nine novel mutations of the FGD1 gene in Aarskog-Scott syndrome PMID: 20082460
    16. non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1 PMID: 11940089
    17. alleles include one with an extra exon in intron 8 and one with an extra exon in intron 7, both with premature termination PMID: 15327482
    18. a novel target of the SCF(FWD1/beta-TrCP) ubiquitin ligase PMID: 15743413
    19. Neurobehavioral disorders are described in two unrelated boys with Aarskog-Scott syndrome affected by novel FGD1 mutations. PMID: 16688726
    20. Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases PMID: 17847065
    21. First case of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. PMID: 19110080
    22. Findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis. PMID: 19141649
    23. FGD1 is preferentially associated with the trans-Golgi network (TGN), suggesting its involvement in export of proteins from the Golgi. PMID: 19261807

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  • 相關疾病：
    Aarskog-Scott syndrome (AAS)
  • 亞細胞定位：
    Cytoplasm. Cell projection, lamellipodium. Cell projection, ruffle. Cytoplasm, cytoskeleton.
  • 組織特異性：
    Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.
  • 數據庫鏈接：

    HGNC: 3663

    OMIM: 300546

    KEGG: hsa:2245

    STRING: 9606.ENSP00000364277

    UniGene: Hs.709201



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