Description
General description
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.
~65 kDa observed; 64.59 kDa calculated. Uncharacterized bands may be observed in some lysate(s).
Immunogen
GST-tagged recombinant fragment corresponding to 122 amino acids corresponding to internal region of human Eyes absent homolog 1 (EYA1). The immunogen sequence is conserved in isoforms 1 and 2, but not in 3.
Application
Anti-Eyes absent homolog 1, clone 6A3.1 Antibody, Cat. No. MABE1047, is a highly specific mouse monoclonal antibody that targets Eyes absent homolog 1 and has been tested foe uae in Immunocytochemistry and Western Blotting.
Immunocytochemistry Analysis: A 1:500 dilution from a representative lot detected Eyes absent homolog 1 in HeLa, HUVEC, and A431 cells.
Biochem/physiol Actions
Clone 6A3.1 detects Eyes absent homolog 1 (EYA1) in human. It targets an epitope within 122 amino acids from the internal region.
Physical form
Format: Purified
Analysis Note
Evaluated by Western Blotting in mouse E13-E14 brain tissue lysate.
Western Blotting Analysis: 0.5 µg/mL of this antibody detected Eyes absent homolog 1 in mouse E13-E14 brain tissue lysate.
Other Notes
Concentration: Please refer to lot specific datasheet.
