Aliases for EYA1 Gene
External Ids for EYA1 Gene
Previous HGNC Symbols for EYA1 Gene
Previous GeneCards Identifiers for EYA1 Gene
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. [provided by RefSeq, Dec 2013]
GeneCards Summary for EYA1 Gene
EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include otofaciocervical syndrome and branchiootorenal syndrome 1, with or without cataracts. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. GO annotations related to this gene include RNA binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA4.
UniProtKB/Swiss-Prot for EYA1 Gene
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). 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 (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).