EYA1 Antibody – Rabbit Polyclonal

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]

EYA1: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be required for normal development of branchial arches, ear and kidney. Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1); also known as Melnick-Fraser syndrome. BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS). The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1); also known as BO syndrome type 1 or branchiootic dysplasia. Individuals with BOS1 are affected by the same branchial and otic anomalies as those seen in individuals with BOR1, but lack renal anomalies. Defects in EYA1 are the cause of anterior segment anomalies with or without cataract (ASA). A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. Belongs to the HAD-like hydrolase superfamily. EYA family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Cell development/differentiation; EC 3.1.3.48; DNA repair, damage; Protein phosphatase, tyrosine (non-receptor); Apoptosis; EC 3.1.3.16

Chromosomal Location of Human Ortholog: 8q13.3

Cellular Component: cytoplasm; nucleoplasm; nucleus; protein complex

Molecular Function: metal ion binding; protein binding; protein tyrosine phosphatase activity; RNA binding

Biological Process: anatomical structure morphogenesis; double-strand break repair; embryonic skeletal morphogenesis; establishment and/or maintenance of apical/basal cell polarity; establishment of mitotic spindle orientation; histone dephosphorylation; mesodermal cell fate specification; metanephros development; middle ear morphogenesis; neuron fate specification; outer ear morphogenesis; pattern specification process; pharyngeal system development; positive regulation of DNA repair; positive regulation of epithelial cell proliferation; positive regulation of Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; protein sumoylation; regulation of neuron differentiation; response to ionizing radiation; semicircular canal morphogenesis; sensory perception of sound; striated muscle development; transcription, DNA-dependent; ureteric bud branching

Disease: Branchiootic Syndrome 1; Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1