EYA1
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. 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. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2. Belongs to the HAD-like hydrolase superfamily. EYA family. 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. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Apoptosis; Cell development/differentiation; DNA repair, damage; EC 3.1.3.16; EC 3.1.3.48; Motility/polarity/chemotaxis; Protein phosphatase, tyrosine (non-receptor) |
Chromosomal Location of human Ortholog: 8q13.3 |
Cellular Component:
cytoplasm; nuclear body; nucleoplasm; nucleus; protein-DNA complex
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Molecular Function:
histone H2AXY142 phosphatase activity; metal ion binding; myosin phosphatase activity; protein binding; protein tyrosine phosphatase activity; RNA binding
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Biological Process:
anatomical structure development; anatomical structure morphogenesis; aorta morphogenesis; branching involved in ureteric bud morphogenesis; cell differentiation; chromatin remodeling; cochlea morphogenesis; double-strand break repair; embryonic skeletal system morphogenesis; epithelial cell proliferation; extrinsic apoptotic signaling pathway in absence of ligand; mesodermal cell fate specification; metanephros development; middle ear morphogenesis; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; neuron fate specification; otic vesicle morphogenesis; outer ear morphogenesis; outflow tract morphogenesis; pattern specification process; pharyngeal system development; positive regulation of DNA repair; positive regulation of epithelial cell proliferation; positive regulation of secondary heart field cardioblast proliferation; positive regulation of transcription by RNA polymerase II; protein dephosphorylation; protein sumoylation; regulation of neuron differentiation; response to ionizing radiation; semicircular canal morphogenesis; sensory perception of sound; striated muscle tissue development
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Disease: Branchiootic Syndrome 1; Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1
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Reference #:
Q99502
(UniProtKB)
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Alt. Names/Synonyms: BOP; BOR; BOS1; EYA transcriptional coactivator and phosphatase 1; EYA1; Eyes absent homolog 1; eyes absent homolog 1 (Drosophila); MGC141875; OFC1
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Gene Symbols: EYA1
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Molecular weight:
64,593 Da
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Basal Isoelectric point:
5.79
Predict pI for various phosphorylation states
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