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  4. Recombinant Human Homeobox expressed in ES cells 1 (HESX1)

Recombinant Human Homeobox expressed in ES cells 1 (HESX1)

  • 中文名称：
    人HESX1重组蛋白
  • 货号：
    CSB-YP871390HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人HESX1重组蛋白
  • 货号：
    CSB-EP871390HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人HESX1重组蛋白
  • 货号：
    CSB-EP871390HU-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：
  • 中文名称：
    人HESX1重组蛋白
  • 货号：
    CSB-BP871390HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人HESX1重组蛋白
  • 货号：
    CSB-MP871390HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    HESX1; HANF; Homeobox expressed in ES cells 1; Homeobox protein ANF; hAnf
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-185
  • 氨基酸序列
    MSPSLQEGAQ LGENKPSTCS FSIERILGLD QKKDCVPLMK PHRPWADTCS SSGKDGNLCL HVPNPPSGIS FPSVVDHPMP EERASKYENY FSASERLSLK RELSWYRGRR PRTAFTQNQI EVLENVFRVN CYPGIDIRED LAQKLNLEED RIQIWFQNRR AKLKRSHRES QFLMAKKNFN TNLLE
  • 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：
    Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.
  • 基因功能参考文献：
    1. HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype PMID: 27000987
    2. A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency PMID: 26111865
    3. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
    4. expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome. PMID: 23465708
    5. Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150. PMID: 21761366
    6. A c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein. PMID: 21325470
    7. A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome. PMID: 21270112
    8. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic growth hormone defiency, combined pituitary hormone deficiency and septo-optic dysplasia. PMID: 20694410
    9. A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2. PMID: 20949537
    10. Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. PMID: 20181723
    11. HESX1 mutations in septo-optic dysplasia will lead to a detailed understanding of its function in the development of the forebrain and pituitary--review PMID: 12424431
    12. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. The insertion of a heterozygous mutation (306/307ins AG) in the exon 2 of the HESX1. PMID: 12519827
    13. novel HESX1 mutation in genomic nucleotide position 1684 (g.1684delG), which results in a mutant protein with increased DNA binding causing repression of PROP1 gene activity PMID: 14557462
    14. HESX1, a paired-like homeotic gene, has recently been reported to be defective in two siblings with septo-optic dysplasia(SOD) p. 278 PMID: 14646405
    15. Mutations within HESX1 have been described in association with both dominant and recessive forms of septo-optic dysplasia, combined pituitary hormone deficiency and isolated growth hormone deficiency p. 207 PMID: 14714741
    16. index cases with autosomal-dominant isolated growth hormone deficiency and normal GH-1 gene had no HESX-1 mutations PMID: 16424673
    17. Two novel HESX1 mutations in a so-far-undescribed disease phenotype characterized by a life-threatening neonatal condition associated with anterior pituitary aplasia, in the absence of ectopic posterior pituitary and optic nerve abnormalities. PMID: 16940453
    18. Mutations within HESX1 are a rare cause of septooptic dysplasia and hypopituitarism PMID: 17148560
    19. mutations in the key developmental gene HESX1 in patients with septo-optic dysplasia and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition PMID: 17587179
    20. establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1 PMID: 17931718
    21. A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency. PMID: 18728160
    22. Despite the significant influence of pairs 19/30 and 31/42 on the stability of the HESX1, their effect on DNA binding was modest. PMID: 19561080

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  • 相关疾病：
    Septooptic dysplasia (SOD); Growth hormone deficiency with pituitary anomalies (GHDPA); Pituitary hormone deficiency, combined, 5 (CPHD5)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    ANF homeobox family
  • 数据库链接：

    HGNC: 4877

    OMIM: 182230

    KEGG: hsa:8820

    STRING: 9606.ENSP00000295934

    UniGene: Hs.171980