Dec 25, 2024 · EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include Branchiootorenal Syndrome 1 and Branchiootic Syndrome 1. Among its related pathways are Kidney development and HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA).

The EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.

The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter. Novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene. [5] [6] This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear.

Feb 15, 2024 · Depletion of EYA4 or EYA1, or chemical inhibition of EYA phosphatase activity, dramatically reduces PLK1 activation, causing mitotic defects and cell death. Overall, we have characterized a...

Dec 10, 2024 · Title: Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.

Members of the EYA family, including EYA1, have protein phosphatase function, and EYA enzymatic activity is required for regulating genes encoding growth control and signaling molecules, modulating precursor cell proliferation (summary by Li et al., 2003).

Oct 10, 2024 · 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.

Loss-of-function studies have shown that EYA1 is required for cell proliferation and survival during mammalian organogenesis. However, how EYA1 is regulated during development is unknown. Here, we report that EYA1 is regulated throughout the …

Eya1, 2, and 3 have all been shown to dephosphorylate the C-terminal pY142 on histone variant H2AX in human and mouse embryonic cell lines 53,54. This dephosphorylation is critical for directing cells to the DNA repair (by recruiting the MDC1/MRN complex) instead of apoptotic pathway under DNA damaging conditions 53 , 54 .