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  4. Recombinant Human Glucokinase (GCK)

Recombinant Human Glucokinase (GCK)

  • 货号：
    CSB-YP009319HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP009319HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP009319HU-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-BP009319HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP009319HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    ATP:D-hexose 6-phosphotransferase; FGQTL3; GCK; GK; GLK; Glucokinase; Hexokinase D pancreatic isozyme; Hexokinase type IV; Hexokinase-4; Hexokinase-D; HHF3; HK IV; HK4; HKIV; HXK4_HUMAN; HXKP; LGLK; MODY2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-465
  • 氨基酸序列
    MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ
  • 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：
    Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant. Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues. Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell. In pancreas, plays an important role in modulating insulin secretion. In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage. Required to provide D-glucose 6-phosphate for the synthesis of glycogen. Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate.
  • 基因功能参考文献：
    1. Our results suggest that the polymorphism of CYP3A4 *18B and GCK G-30A might affect the new-onset diabetes after transplantation (NODAT) development under tacrolimus-based immunotherapy. We suspect that the depression of GCK function may be a crucial pathogenic factor of tacrolimus-induced NODAT in variant carrier with A allele of GCK, but not be simply reflecting of glucose change. PMID: 29546446
    2. Data suggest that the following genetic modifications are involved in neonatal diabetes mellitus patients in Oman: (1) mutation in KCNJ11 (potassium voltage-gated channel subfamily J member 11; one patient); (2) mutation in GCK (glucokinase); (3) mutation in SLC2A2 (glucose transporter type 2); (4) chromosome 6q24 methylation abnormalities. PMID: 29329106
    3. GCK gene mutations were detected in Chinese children and their family members with typical clinical features of glucokinase-maturity-onset diabetes of the young. Four novel mutations were detected. PMID: 29510678
    4. The studies screening criteria allowed for the identification of glucokinase (GCK)-deficient patients who were diagnosed with gestational diabetes, and these mutations in the GCK gene were not common in Chinese women with gestational diabetes. PMID: 28371533
    5. Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase. PMID: 29704611
    6. 44 different mutations affecting the GCK and co-segregating with the clinical phenotype of MODY were identified. PMID: 28726111
    7. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. PMID: 28170077
    8. a nuclear import of glucokinase mediated by a redundant mechanism, involving a nuclear localization signal, and which is modulated by its SUMOylation, is reported. PMID: 28648619
    9. La variante confirmada of the glucokinase gene para esta familia es c.148C>T, p.His50Tyr. Tiene caracter patogenico, dado que produce una disminucion de la actividad enzimatica de GCK y ha sido reportada en la literatura PMID: 29424410
    10. described the clinical and genetic presentation of four families with activating GCK mutations The clinical phenotype of the GCK activating mutation carriers was heterogeneous, the severity of symptoms and age at presentation varied markedly between affected individuals, even within the same family. PMID: 28247534
    11. the contribution of the Maturity Onset Diabetes of the Young gene GCK in the etiology of 23 unrelated Tunisian families PMID: 29408271
    12. GCK-dependent glycolysis regulates Treg cell migration. PMID: 29166588
    13. Mutations in the GCK gene were identified in 79 out of 177. PMID: 29056535
    14. GCK GCK GCK GCK PMID: 28783164
    15. GCK gene mutations (pathogenic or likely pathogenic variants) and a novel intronic variant of uncertain significance (c.208 + 3A>T) were identified in 13/54 probands (24%). PMID: 27256595
    16. Data suggest that hepatic glucokinase activity is regulated by reversible binding to specific inhibitor protein glucokinase regulatory protein (GKRP) and by binding to activator proteins such as 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (PFK2/FBP2); changes in glucokinase expression and activity are associated with poorly controlled type 2 diabetes and nonalcoholic fatty liver disease. [REVIEW] PMID: 27146014
    17. GCK expression is regulated by nutrient-sensing O-linked beta-N-acetylglucosaminylation cycling in liver. PMID: 27520373
    18. GCK mutations are associated with MODY2. PMID: 27269892
    19. Glucokinase mutations are associated with Maturity-Onset Diabetes of the Young. PMID: 27634015
    20. The results show that p.Leu77Arg but not p.Val101Met GCK mutation is considered a pathogenic mutation associated with maturity onset diabetes of the young. PMID: 27185633
    21. GCK mutations are associated with Maturity onset diabetes of youth. PMID: 26669242
    22. glucokinase mutation is associated with Maturity-Onset Diabetes of the Young, Type 2. PMID: 27016322
    23. The number of mutations in GCK/MODY2 or even other MODY-related genes is undoubtedly underestimated, as accepted criteria for performing genetic tests include family history of the pathology. PMID: 27289208
    24. Plasma ghrelin is higher in glucokinase-maturity onset diabetes of the young than in the common polygenic forms of diabetes. PMID: 25987348
    25. Given that acetylated GKRP may affiliate with type-2 diabetes mellitus (T2DM), understanding the mechanism of GKRP acetylation in the liver could reveal novel targets within the GK-GKRP pathway, for treating T2DM and other metabolic pathologies. PMID: 26620281
    26. The results of this study showed that mutations in the GCK gene are the leading cause of maturity-onset diabetes of the young in our population PMID: 26226118
    27. DR of any degree was not present in our GCK-MODY group, while in spite of young age almost every fourth subject with HNF1A-MODY showed signs of this complication. PMID: 26240958
    28. Complete sequencing of the GCK gene, carried out in the patient, identified a novel mutation c.1268T>A (p.Phe423Tyr) in exon 10 of the gene GCK in heterozygosity. Further studies revealed the same mutation in her mother and maternal grandfather PMID: 23843579
    29. Thus, a glucokinase activator drug therapy may help MODY2 patients not in general, but seems to be a useful strategy for carriers of the L315H glucokinase mutation. PMID: 26208450
    30. This is the first report that presents a significant association of polymorphism rs2268574 in Glucokinase gene with gestational Diabetes mellitus patients. PMID: 24495862
    31. structural variations in in exons 10 and 11 due to mutations could be one of the strongest reasons for the hyperglycemic levels in these type 2 diabetic patients PMID: 24720358
    32. Aberrant methylation of the GCK gene body was significantly associated with the risk of essential hypertension. PMID: 25892191
    33. High levels of HbA1c were associated with an increased risk of recurrence of atrial tachyarrhythmia in patients with T2DM and PAF undergoing catheter ablation. PMID: 25336239
    34. analysis of allosteric activation mechanisms in monomeric human glucokinase PMID: 26283387
    35. The meta-analysis showed that GCK-30G > A polymorphism was associated with GDM in Caucasian and Asian. PMID: 25633883
    36. Patients had higher fasting and postprandial glycemic excursions in the first trimester of GCK mutation MODY pregnancies than HNF-1alpha mutation MODY pregnancies despite insulin treatment. There was an increased percentage of miscarriages in GCK pregnancies. PMID: 25935773
    37. Two novel GCK splicing mutations in Maturity Onset Diabetes of Young 2 have been characterized. PMID: 25850297
    38. A heterozygous activating mutation, p.Val389Leu, was found in the proband and four other family members with familial adult onset hyperinsulinism. PMID: 24890200
    39. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. PMID: 25015100
    40. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. PMID: 25174781
    41. genetic association study in population in Japan: In study of 55 probands diagnosed at 0-14 years and 23 adult family members, 35 different mutations in GCK were identified as associated with MODY2 (glucokinase maturity-onset diabetes of the young). PMID: 24804978
    42. Data suggest that brain glucokinase (especially in glial cells and neurons) plays key role in glucose sensing, feedback to pancreatic islets, and metabolic homeostasis. [REVIEW] PMID: 25200293
    43. The hypomethylation of GCK gene-body was significantly associated with the risk of coronary heart disease. PMID: 24696842
    44. Mutations in GCK, HNF1A or HNF4A genes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent. PMID: 24323243
    45. meta-analysis indicated that the risk allele of the GCK -30G>A polymorphism may increase gestational diabetes mellitus and type 2 diabetes mellitus risk in whites, whereas additional studies are needed to confirm the effect of this polymorphism on both diseases in Asians and Africans PMID: 24520939
    46. Common variation in GCK influences the rate of carbohydrate oxidation, 24 h energy expenditure and diabetes risk in Pima Indians. PMID: 24728127
    47. Results suggest a model in which the primary structure of connecting loop I affects cooperativity by influencing conformational dynamics, without altering the equilibrium distribution of GCK conformations. PMID: 24723372
    48. MODY 2-associated deleterious missense mutations in the GCK gene were found to alter the stability, flexibility, and solvent-accessible surface area of the protein. PMID: 24578721
    49. Atf3-silencing reversed ethanol-mediated Gck down-regulation and beta-cell dysfunction, followed by the amelioration of impaired glucose tolerance and insulin resistance. PMID: 25074928
    50. This is the first study of MODY 2 mutations from India and confirms the importance of considering GCK gene mutation screening in patients with mild early-onset hyperglycemia who are negative for beta-cell antibodies. PMID: 24405491

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  • 相关疾病：
    Maturity-onset diabetes of the young 2 (MODY2); Familial hyperinsulinemic hypoglycemia 3 (HHF3); Diabetes mellitus, non-insulin-dependent (NIDDM); Diabetes mellitus, permanent neonatal (PNDM)
  • 亚细胞定位：
    Cytoplasm. Nucleus. Mitochondrion.
  • 蛋白家族：
    Hexokinase family
  • 数据库链接：

    HGNC: 4195

    OMIM: 125851

    KEGG: hsa:2645

    STRING: 9606.ENSP00000223366

    UniGene: Hs.1270