Eyes absent homolog 1 (UniProt: Q99502; also known as EC:3.1.3.16; EC:3.1.3.48) is encoded by the EYA1 gene (Gene ID: 2138) in human. Eyes absent homolog 1 belongs to the HAD-like hydrolase superfamily of proteins. It functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Three isoforms of EYA1 protein have been reported that are produced by alternative splicing. It normally localizes at sites of DNA damage at double-strand breaks. In the embryo, it is highly expressed in kidney and at lower levels in brain. In adults, heart and skeletal muscle display higher expression levels and eye and kidney lack any expression. As a tyrosine phosphatase it dephosphorylates Tyr142 of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. Phosphorylation at Try 142 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. It also displays phosphatase activity with proteins phosphorylated on Serine and Threonine residues. Mutations in EYA1 gene have been linked to branchiootorenal syndrome 1 that is characterized by branchial cleft fistulas or cysts, hearing loss, and renal malformations.
Synonyms: Eyes absent homolog 1, EC:3.1.3.16, EC:3.1.3.48
Application: Immunocytochemistry Analysis: A 1:500 dilution from a representative lot detected Eyes absent homolog 1 in HeLa, HUVEC, and A431 cells.
Other Notes: Concentration: Please refer to lot specific datasheet.