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GTF2IRD1 Antibody

  • 货号：
    CSB-PA010018GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9UHL9
  • 基因名：
  • 别名：
    CREAM1 antibody; General transcription factor II I repeat domain containing protein 1 antibody; General transcription factor II-I repeat domain-containing protein 1 antibody; General transcription factor III antibody; GT2D1_HUMAN antibody; GTF2I repeat domain containing protein 1 antibody; GTF2I repeat domain-containing protein 1 antibody; GTF2IRD1 antibody; GTF3 antibody; Muscle TFII I repeat domain-containing protein 1 antibody; Muscle TFII-I repeat domain-containing protein 1 antibody; MUSTRD1 antibody; MusTRD1/BEN antibody; RBAP2 antibody; Slow muscle fiber enhancer binding protein antibody; Slow-muscle-fiber enhancer-binding protein antibody; USE B1 binding protein antibody; USE B1-binding protein antibody; WBSCR11 antibody; WBSCR12 antibody; Williams Beuren syndrome chromosome region 11 protein antibody; Williams-Beuren syndrome chromosomal region 11 protein antibody; Williams-Beuren syndrome chromosomal region 12 protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GTF2IRD1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8.
  • 基因功能参考文献：
    1. The mis-regulation of genes downstream of GTF2IRD1, including TbetaR2 and BMPR1b, also individually promoted mammary cancer development, and silencing of TbetaR2 suppressed GTF2IRD1-driven tumor promotion. PMID: 27239038
    2. Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele. PMID: 26320362
    3. GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium. PMID: 26275350
    4. GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta. PMID: 23145142
    5. This study provided evidences that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany Williams-Beuren syndrome. PMID: 22198572
    6. functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of Williams-Beuren syndrome PMID: 19897463
    7. Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. PMID: 20007321
    8. characterization and involvement in slow muscle-specific gene expression PMID: 12475981
    9. role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor PMID: 12857748
    10. GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning PMID: 12865760
    11. human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1. PMID: 15941713
    12. GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development PMID: 16293761
    13. a regulator of slow fiber-specific genes PMID: 16494860
    14. functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I) PMID: 17346708
    15. analysis of the consensus binding site for TFII-I family member BEN PMID: 18326499
    16. GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction. PMID: 19205026

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  • 相关疾病：
    GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    TFII-I family
  • 组织特异性：
    Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
  • 数据库链接：

    HGNC: 4661

    OMIM: 604318

    KEGG: hsa:9569

    STRING: 9606.ENSP00000397566

    UniGene: Hs.647056