Overview

  • Product nameRecombinant Human EYA1 protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ99502
    • SpeciesHuman
    • SequenceTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTE GGLSQSQSPGQTGFLSYGTSF
    • Molecular weight33 kDa including tags
    • Amino acids100 to 170

Specifications

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.

  • Applications

    Western blot

    ELISA

    SDS-PAGE

  • FormLiquid
  • Additional notesProtein 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...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • BOP
    • BOR
    • Eya1
    • EYA1_HUMAN
    • Eyes absent 1
    • Eyes absent 1 homolog
    • Eyes absent homolog 1
    • Eyes absent homolog 1 (Drosophila)
    • Eyes absent homolog1
    • MGC141875
    see all
  • FunctionTyrosine 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.
  • Tissue specificityIn 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.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the HAD-like hydrolase superfamily. EYA family.
  • Developmental stageDetected 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.
  • Post-translational
    modifications
    Sumoylated by SUMO1.
  • Cellular localizationCytoplasm. Nucleus. Localizes at sites of DNA damage at double-strand breaks.
  • Information by UniProt

Recombinant Human EYA1 protein images

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

References for Recombinant Human EYA1 protein (ab114638)

ab114638 has not yet been referenced specifically in any publications.

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