|Other Names||Eyes absent homolog 1, EYA1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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 (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).|
|Cellular Location||Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)|
|Tissue Location||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|
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This gene encodes a member of the eyes absent (EYA) familyof proteins. The encoded protein may play a role in the developingkidney, branchial arches, eye, and ear. Mutations of this gene havebeen associated with branchiootorenal dysplasia syndrome,branchiootic syndrome, and sporadic cases of congenital cataractsand ocular anterior segment anomalies. A similar protein in micecan act as a transcriptional activator. Four transcript variantsencoding three distinct isoforms have been identified for thisgene.
Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :Lin, L., et al. Zhonghua Zheng Xing Wai Ke Za Zhi 25(6):436-439(2009)Drake, K.M., et al. Clin. Cancer Res. 15(19):5985-5992(2009)Patrick, A.N., et al. J. Biol. Chem. 284(31):20781-20790(2009)Lee, J.D., et al. Ann. Clin. Lab. Sci. 39(3):303-306(2009)
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