Recombinant人EYA1 protein (ab114638)

概述

  • 产品名称
    Recombinant人EYA1 protein
  • 蛋白长度
    Protein fragment

描述

  • 性质
    Recombinant
  • 来源
    Wheat germ
  • 氨基酸序列
    • Accession
    • 种属
      Human
    • 序列
      TPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTE GGLSQSQSPGQTGFLSYGTSF
    • 分子量
      33 kDa including tags
    • 氨基酸
      100 to 170

技术指标

Our Abpromise guarantee covers the use of ab114638 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Western blot

    ELISA

    SDS-PAGE

  • 形式
    Liquid
  • 补充说明
    Protein concentration is above or equal to 0.05 mg/ml.
    This protein is best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • BOP
    • BOR
    • BOS1
    • EYA transcriptional coactivator and phosphatase 1
    • Eya1
    • EYA1_HUMAN
    • Eyes absent 1
    • Eyes absent 1 homolog
    • Eyes absent homolog 1
    • Eyes absent homolog 1 (Drosophila)
    • Eyes absent homolog1
    • MGC141875
    • OFC1
    see all
  • 功能
    Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be required for normal development of branchial arches, ear and kidney.
  • 组织特异性
    In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.
  • 疾病相关
    Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1) [MIM:113650]; also known as Melnick-Fraser syndrome. BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.
    Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS) [MIM:166780]. The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR.
    Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1) [MIM:602588]; also known as BO syndrome type 1 or branchiootic dysplasia. Individuals with BOS1 are affected by the same branchial and otic anomalies as those seen in individuals with BOR1, but lack renal anomalies.
  • 序列相似性
    Belongs to the HAD-like hydrolase superfamily. EYA family.
  • 发展阶段
    Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.
  • 翻译后修饰
    Sumoylated by SUMO1.
  • 细胞定位
    Cytoplasm. Nucleus. Localizes at sites of DNA damage at double-strand breaks.
  • Information by UniProt

图片

  • 12.5% SDS-PAGE image showing ab114638 Stained with Coomassie Blue.

文献

ab114638 has not yet been referenced specifically in any publications.

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