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  4. Recombinant Human Hepatocyte nuclear factor 1-beta (HNF1B)

Recombinant Human Hepatocyte nuclear factor 1-beta (HNF1B)

  • 货号：
    CSB-YP010593HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP010593HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP010593HU-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-BP010593HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP010593HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    HNF1B
  • Uniprot No.：
  • 别名：
    FJHN; Hepatocyte nuclear factor 1 beta; Hepatocyte nuclear factor 1-beta; HNF 1B; HNF 2; HNF-1-beta; HNF-1B; HNF1 beta; HNF1 homeobox B; HNF1B; HNF1B_HUMAN; HNF1beta; HNF2; Homeoprotein LF B3; Homeoprotein LFB3; HPC11; LF B3; LFB3; MODY 5; MODY5; TCF 2; TCF 2 protein; TCF-2; TCF2; TCF2 protein; Transcription factor 2; Transcription factor 2 hepatic; Variant hepatic nuclear factor 1; Variant hepatic nuclear factor; VHNF 1; vHNF1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-557
  • 氨基酸序列
    MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL RQFNQTVQSS GNMTDKSSQD QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP ASQQILYQAY DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV RYSQQGNNEI TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG KMISVSGGGL PPVSTLTNIH SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS PHQQPLMQQS PGSHMAQQPF MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI STLTNMSSSK QCPLQAW
  • 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：
    Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Binds to the FPC element in the cAMP regulatory unit of the PLAU gene. Transcriptional activity is increased by coactivator PCBD1.
  • 基因功能参考文献：
    1. HNF1B p.Arg527Gln nonsense mutation mutation is associated with atypical early onset diabetes and diabetic nephropathy. PMID: 29764441
    2. Loss of HNF1B in renal epithelial cells Results in Kidney Disease with Cysts. PMID: 29735694
    3. HNF1B gene rs4430796 G allele may be associated with increased risk of Gestational Diabetes. Additionally, women in HNF1B rs4430796 AG genotype were observed to have a higher BMI increase during pregnancy. PMID: 28274157
    4. HNF1beta is a transcriptional activator of Kcnj16. Hence, patients with HNF1beta mutations may have reduced Kir5.1 activity in the kidney, resulting in hypokalemia and hypomagnesemia. PMID: 28577853
    5. HNF-1B plays a critical role in lipid and glucose homeostasis in second trimester of pregnancy PMID: 28591938
    6. Data suggest that a missense mutation in HNF1B (c.1007A>G; p.H336R) can result in maturity-onset diabetes of the young type 5; study involved 30-year-old woman and her 58-year-old mother in a Chinese family. [CASE REPORT] PMID: 28502589
    7. In patients with HNF1B syndrome, diabetes complications, cardiovascular risk factors, chronic kidney disease stages 3-4, and end-stage renal disease are highly prevalent. PMID: 28420700
    8. HNF1B variants associate with promoter methylation and regulate gene networks activated in prostate and ovarian cancer PMID: 27732966
    9. HNF1B mutation represents a differential diagnosis of polyhydramnios associated with hyperechogenic (and sometimes enlarged) kidneys PMID: 27286685
    10. The functional, biochemical, and structural characterisation of the nuclear localisation signal present on HNF1beta and its interaction with the nuclear import protein Importin-alpha. PMID: 27346421
    11. HNF1beta was a direct target of miR-217, and played oncogenic role in glioma cells. PMID: 28219405
    12. This review discusses the role of HNF1B in human and murine pancreas and liver development, summarizes the disease phenotypes and identifies areas for future investigations in HNF1B-associated diabetes and liver disease. [Review Article] PMID: 27615128
    13. Low HNF1B expression is associated with Chromophobe Renal Cell Carcinomas. PMID: 28807937
    14. 17q12 deletions but not HNF1B intragenic mutations are associated with neurodevelopmental disorders. Hence, the HNF1B gene is not involved in the neurodevelopmental phenotype of these patients. PMID: 27234567
    15. Structural anomalies of the biliary system were common in HNF1B mutation carriers. PMID: 28324003
    16. HNF1B mutation was associated with congenital anomalies of the kidney and urinary tract, as well as pancreatic hypoplasia. PMID: 27297286
    17. Overall 61.2% of clear cell RCC and 75% of UC were immunopositive with HNF-1beta in our study. HNF-1beta has a limited utility in differentiating CCC of the genitourinary system from an ovarian primary PMID: 26574638
    18. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. CONCLUSION(S): Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was approximately 19%. PMID: 28600106
    19. HNF-1beta suppression in tubular epithelial cells (TECs) is a crucial event for the dedifferentiation of TECs, and the upregulation of HNF-1beta in TECs has a potential to restore the dedifferentiated TECs into their normal state, leading to the attenuation of renal fibrosis PMID: 27196561
    20. importin-beta is involved in the maintenance of the mitotic retention of HNF1beta, suggesting a functional link between the nuclear import system and the mitotic localization/translocation of bookmarking factors. PMID: 27229139
    21. rs11651755 in HNF1B was found to be associated with endometriosis in this case-control study. PMID: 28214017
    22. Because HNF1B-related disease is a heterozygous condition, calcineurin inhibitors used to prevent rejection may induce reduced expression of the nonmutated allele of HNF1B leading to a superimposed defect of HNF-1beta transcriptional activity. PMID: 26555949
    23. HNF1B is a novel oncogene that can work cooperatively with ERBB2. PMID: 27001343
    24. We confirmed the significance of the HNF1B and GATA4 hypermethylation with emphasis on the need of selecting the most relevant sites for analysis. We suggest selected CpGs to be further examined as a potential positive prognostic factor. PMID: 28241454
    25. The diffuse and strong HNF-1beta expression pattern can be used to diagnose ovarian clear cell carcinoma (OCCC) with high specificity. PMID: 26166716
    26. Studied the role of HNF1B abnormalities in the occurrence of cognitive defects, the frequency of ID was assessed according to the presence of HNF1B mutations or deletion in a large cohort of adult patients with HNF1B-MODY. PMID: 27838256
    27. Expression of HNF-1-beta was detected in various extents in all types of lesions. PMID: 26685938
    28. Glutaminolysis is activated in ES2 and OVCAR3, though ES2 exclusively synthesizes amino acids and GSH. ES2 cells are more resistant to carboplatin than OVCAR3 and the abrogation of GSH production by BSO sensitizes ES2 to carboplatin. HNF1beta regulates the expression of GCLC, but not GCLM, and consequently GSH production in ES2 PMID: 26520442
    29. HNF1B mutations are associated with Maturity onset diabetes of youth. PMID: 26669242
    30. along with Sanger genetic screening for MODY genetic testing, we were able to diagnose the aetiology of the first case of MODY caused by an HNF1B whole-gene deletion in a Brazilian patient with atypical clinical presentation. PMID: 27321323
    31. We were able to diagnose the first Brazilian patient with an HNF1B whole-gene deletion, whose familial phenotype was not typically associated with this molecular diagnosis. PMID: 27321324
    32. HNF-1B-positive malignant cells could be bipotential cells and give rise to both hepatocytic and cholangiocytic lineages during tumorigenesis. PMID: 26311117
    33. Early-stage ovarian clear cell carcinoma tended to have high levels of HNF-1beta immunoreactivity. Low-level HNF-1beta expression was observed in patients with recurrence and high-level HNF-1beta was associated with good prognosis. PMID: 26945423
    34. rs4430796 polymorphism of HNF1B gene influences independently the prognosis of EC patients with a potential effect on tumor chemo-sensitivity. PMID: 25885815
    35. Combining HNF-1beta and napsin A may distinguish clear cell carcinoma from high-grade serous carcinoma, endometrioid adenocarcinoma and metastatic Krukenberg tumors. PMID: 26339401
    36. Meta-analysis of the association between the HNF1B rs4430796 (A>G) polymorphism and risk of prostate cancer based on case-control studies. PMID: 26214421
    37. HNF1B score was discriminatory for HNF1B mutations in a large cohort of individuals tested in a single UK centre PMID: 26022541
    38. In cervical carcinoma, expression of HNF-1beta is mostly restricted to adenocarcinomas and can be used as an auxiliary adenocarcinoma marker in the differential diagnosis of poorly differentiated cervical carcinomas. PMID: 25884453
    39. Our findings provide evidence for a single signal associated with endometrial cancer risk at the HNF1B locus, and that risk is likely mediated via altered HNF1B gene expression. PMID: 25378557
    40. Results indicated that the downregulation of HNF1B may contribute to drug resistance in ovarian cancer, through various pathways. PMID: 24968817
    41. Studied upstream and downstream regulatory factors of HNF-1beta in ovarian clear cell carcinomas. PMID: 26030369
    42. The binding of has-miRNAs 214-5p and 550a-5p regulate the expression of the HNF1B gene and the susceptibility of type 2 diabetes mellitus. PMID: 26329304
    43. Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is essential for the embryogenesis and development of the kidney, pancreas and liver. PMID: 25638216
    44. Case Report: severe hepatic phenotype of an HNF1B variant. PMID: 25741167
    45. In diagnosis of ovarian clear cell carcinoma, HNF1beta is highly sensitive but is suboptimally specific in isolation. PMID: 25551297
    46. Heterozygous mutations in the coding region or splice sites of HNF1B, and complete gene deletion, each account for approximately 50% of all cases of HNF1B-associated disease, respectively, and often arise spontaneously PMID: 25536396
    47. A mutation in HNF-1B that encoded methionine to valine amino acid change was identified in a family with maturity-onset diabetes of the young type 5. PMID: 25367728
    48. Duodenal atresia in 17q12 microdeletion including HNF1B; it is hypothesized that HNF1B may play a role in intestinal differentiation and development. PMID: 25256560
    49. HNF1B mutations are responsible for approximately 10% of cases of congenital abnormalities of kidney and urinary tract, both in children and in adults PMID: 25500806
    50. High HNF1B expression is associated with prostate cancer. PMID: 24332637

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  • 相关疾病：
    Renal cysts and diabetes syndrome (RCAD); Diabetes mellitus, non-insulin-dependent (NIDDM); Prostate cancer, hereditary, 11 (HPC11)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    HNF1 homeobox family
  • 数据库链接：

    HGNC: 11630

    OMIM: 125853

    KEGG: hsa:6928

    STRING: 9606.ENSP00000225893

    UniGene: Hs.191144