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  4. Recombinant Human Nuclear receptor subfamily 0 group B member 1 (NR0B1)

Recombinant Human Nuclear receptor subfamily 0 group B member 1 (NR0B1)

  • 中文名稱：
    人NR0B1重組蛋白
  • 貨號：
    CSB-YP016041HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人NR0B1重組蛋白
  • 貨號：
    CSB-EP016041HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人NR0B1重組蛋白
  • 貨號：
    CSB-EP016041HU-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NR0B1重組蛋白
  • 貨號：
    CSB-BP016041HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人NR0B1重組蛋白
  • 貨號：
    CSB-MP016041HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    NR0B1
  • Uniprot No.：
  • 別名：
    AHC; AHCH ; AHX; DAX 1; DAX1; Dosage sensitive sex reversal; DSS ; DSS AHC critical region on the X chromosome protein 1; DSS-AHC critical region on the X chromosome protein 1; GTD; HHG; Nr0b1; NR0B1_HUMAN; NROB1; Nuclear hormone receptor; Nuclear receptor 0B1; Nuclear receptor DAX 1; Nuclear receptor DAX-1; Nuclear receptor DAX1; Nuclear receptor subfamily 0 group B member 1; SRXY2
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full length protein
  • 表達區域：
    1-470
  • 氨基酸序列
    MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG REGLLGGRNV ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT LGPCWGCSCG SDPGVGRAGL PGGRPVALLY RCCFCGEDHP RQGSILYSLL TSSKQTHVAP AAPEARPGGA WWDRSYFAQR PGGKEALPGG RATALLYRCC FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS GALRPVALKS PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR KVPSASQVQA IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI QGLQWGTQQI LSEHTRMTHQ GPHDRFIELN STLFLLRFIN ANVIAELFFR PIIGTVSMDD MMLEMLCTKI
  • 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：
    Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency.
  • 基因功能參考文獻：
    1. A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism. PMID: 28075027
    2. Based on the level of NR0B1 expression in lung adenocarcinoma cells with different clinical stages, our results indicate that epigenetic modifications promote NR0B1 activation to maintain the self-renewal of cancer cells. PMID: 27281610
    3. Nonsense mutation in the DAX-1 gene is associated with precocious puberty and late-onset hypogonadotropic hypogonadism. PMID: 28284037
    4. These findings suggested that the mutation of NR0B1 in X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism. PMID: 27035099
    5. DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis. PMID: 25985323
    6. This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis. PMID: 26207377
    7. DAX-1 is less specific than Ap2beta, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2beta PMID: 26168243
    8. DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 25968435
    9. Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. PMID: 25079468
    10. DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review. PMID: 24751136
    11. results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development PMID: 25171651
    12. Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene. PMID: 16355812
    13. Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism. PMID: 25003377
    14. Data suggest that levels of DAX1/NR0B1 in subcapsular zone of adrenal glands (zona glomerulosa) are not prominently different in subjects with primary aldosteronism, subjects with aldosterone-producing adrenocortical adenomas, or normal subjects. PMID: 24531914
    15. Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies. PMID: 24668626
    16. MiR-561 worsens APAP-induced hepatotoxicity via inhibition of DAX-1. PMID: 24104199
    17. Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. PMID: 23512386
    18. Androgens, through DAX-1, inhibit aromatase expression in breast cancer cell lines. PMID: 23846226
    19. These results indicate the reciprocal relationship between NR0B1 and PPARgamma on the malignant grade of lung adenocarcinoma PMID: 22843091
    20. NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency PMID: 23378245
    21. Loss of NR0B1 gene is associated with adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 PMID: 23824603
    22. We report a novel non-sense p.Gln208X mutation in the amino terminal domain of the DAX-1 gene observed in a large family with three boys presenting with adrenal manifestations at different ages. PMID: 23585174
    23. study identified NR0B1 sequence variants in 4 congenital adrenal hypoplasia/hypogonadal hypogonadism pedigrees; 3 are novel and 2 represent the first NR0B1 variants reported in patients of Arabic ethnic origin PMID: 23018754
    24. DAX-1 as a novel and potent constitutive androstane receptor (CAR) corepressor and suggest that DAX-1 functions as a coordinate hepatic regulator of CAR's biological function. PMID: 22896671
    25. decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations PMID: 22761912
    26. These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways. PMID: 22749036
    27. A novel DAX1 missense mutation, c.1274G>T (p.Arg425Ile), causing X-linked adrenal hypoplasia congenita, was found in a Congolese family. PMID: 21739173
    28. genetic association study in Swedish subjects: studies to characterize NR0B1 deletions (and contiguous gene deletions) in patients with X-linked congenital adrenal hypoplasia (and their mothers); correlation of genotypes with divergent phenotypes PMID: 22456342
    29. DAX1 gene mutations are associated with primary adrenal insufficiency. PMID: 22768659
    30. Results describe two novel mutations in the human DAX1 gene in patients with X-linked adrenal hypoplasia congenita. PMID: 21270512
    31. Reviews the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function. PMID: 21672607
    32. DAX-1/DAX-1A is expressed in germ cells from spermatogonia to spermatids. The similar mRNA expression of DAX-I and DAX-IA in testicular tissues from cases and controls does not support the involvement of DAX-1 in primary spermatogenic failure. PMID: 21775412
    33. Nonsense and frameshift mutations of the DAX-1 gene partially eliminated the ability of DAX-1 to repress the transcription of steroidogenic acute regulatory protein PMID: 21632081
    34. DAX1 acts as a co-repressor to negatively modulate FXR transactivity. PMID: 21856289
    35. Male children with adrenal cortical hypofunction should be suspected of X-linked AHC with mutations in NR0B1. PMID: 21029627
    36. patient with X-linked congenital adrenal hypoplasia (and associated with hypogonadotropic hypogonadism) was found to have a mutation in NR0B1 [(C1210T) leading to a stop codon in position 404 (Q404X)] [CASE REPORT] PMID: 21227944
    37. In operable node-negative breast cancer, strong DAX-1 expression is associated with excellent survival. PMID: 21378322
    38. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations. PMID: 21164257
    39. DAX1 mutations influence the hypothalamus-pituitary-gonadal and adrenal axis and lead to adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 20573681
    40. In X-linked adrenal hypoplasia congenita caused by different molecular defects in NR0B1 gene, the clinical spectrum of the disease is quite variable and precocious sexual development is a prominent feature. PMID: 19508677
    41. DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis PMID: 20080977
    42. describe phenotypic spectrum of disorders associated with mutations and reveal how the discovery of naturally occurring mutations is helping to unravel the role in development and disease [review] PMID: 11738790
    43. Identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). PMID: 11748852
    44. potently inhibits ligand-dependent transcriptional activation as well as the interaction between the N- and C-terminal activation domains of the androgen receptor PMID: 11875111
    45. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein PMID: 12034880
    46. adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes PMID: 12083815
    47. WT1 and this protein inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells PMID: 12213901
    48. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita. PMID: 12519885
    49. missense mutations and deletions in dax1 protein is associated with persistent hypertriglyceridemia PMID: 12636049
    50. modulation of DAX-1 and steroidogenic factor-1 intracellular levels in granulosa cells suggests that these transcription factors could be involved in mitogen-activated protein kinase suppression of steroidogenic acute regulatory protein expression PMID: 12727988

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  • 相關疾?。?/div>
    Adrenal hypoplasia, congenital (AHC); 46,XY sex reversal 2 (SRXY2)
  • 亞細胞定位：
    Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.
  • 蛋白家族：
    Nuclear hormone receptor family, NR0 subfamily
  • 數據庫鏈接：

    HGNC: 7960

    OMIM: 300018

    KEGG: hsa:190

    STRING: 9606.ENSP00000368253

    UniGene: Hs.268490



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