Rabbit anti-Human EYA1 Polyclonal Antibody

Uniprot Id

Q99502

Target Species

Human

Target Name

EYA1

Target Full Name

Protein phosphatase EYA1

Target Function

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.

Target Involvement

Branchiootorenal syndrome 1 (BOR1); Otofaciocervical syndrome 1 (OTFCS1); Branchiootic syndrome 1 (BOS1); Anterior segment anomalies with or without cataract (ASA)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

HAD-like hydrolase superfamily, EYA family

Target Tissue Specificity

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.

Target Synonyms

BOP; BOR; BOS1; EYA transcriptional coactivator and phosphatase 1; Eya1; EYA1_HUMAN; Eyes absent 1; Eyes absent 1 homolog; Eyes absent homolog 1 (Drosophila); Eyes absent homolog 1; Eyes absent homolog1; MGC141875; OFC1

Target Background

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene.