EYA1 : EYA transcriptional coactivator and phosphatase 1
Description
The EYA1 (EYA transcriptional coactivator and phosphatase 1) is a protein-coding gene located on chromosome 8.
The EYA1 gene provides instructions for making a protein that regulates the activity of other genes. It's called a transcription factor or transcription coactivator. EYA1 protein interacts with other proteins, including SIX proteins, to activate and inactivate genes essential for development. Before birth, these interactions are crucial for the formation of tissues like the second branchial arch, eyes, ears, and kidneys. After birth, they are vital for organ function.
EYA1 acts as both a protein phosphatase and a transcriptional coactivator, primarily for SIX1, and likely for SIX2, SIX4, and SIX5. As a tyrosine phosphatase, it dephosphorylates Tyr-142 of histone H2AX, facilitating DNA repair by attracting DNA repair complexes containing MDC1. This Tyr-142 phosphorylation is crucial in DNA repair, differentiating between apoptosis and repair responses to genotoxic stress. Its histone phosphatase function potentially contributes to its transcriptional regulatory role during organogenesis. Additionally, EYA1 exhibits phosphatase activity with proteins phosphorylated on Ser and Thr residues in vitro. It is essential for the normal embryonic development of the craniofacial and trunk skeleton, kidneys, and ears. In collaboration with SIX1, it plays a vital role in hypaxial muscle development, with a functional redundancy with EYA2 in this process. EYA1 interacts with SIX2, SIX4, and SIX5, and interacts with H2AX in response to DNA damage. It also interacts with SIX3 and promotes its translocation to the nucleus.
EYA1 is also known as BOP, BOR, BOS1, OFC1, OTFCS.
Associated Diseases
- Branchiootic syndrome 1
- Otofaciocervical syndrome
- BOR syndrome
- Branchiootic syndrome
- Branchiootorenal syndrome 1
- Branchiootorenal/branchiootic syndrome
- Congenital anomalies of kidney and urinary tract
