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EYA1 Q99502

蛋白磷酸酶EYA1 (EC 3.1.3.16) (EC 3.1.3.48) (缺眼同源蛋白1)

蛋白质信息 (UniProt)

蛋白磷酸酶EYA1 (EC 3.1.3.16) (EC 3.1.3.48) (缺眼同源蛋白1)

Q99502

功能描述

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). Also has 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).

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.

亚细胞定位

Cytoplasm

关键词

Activator Alternative splicing Chromatin regulator Cytoplasm Deafness Developmental protein Disease variant DNA damage DNA repair Hydrolase