EYA1, Polyclonal Antibody

EYA1; Eyes absent homolog 1; EYA4; Eyes absent homolog 4

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Recognizes endogenous levels of EYA1 protein.

The antibody was purified by immunogen affinity chromatography.

Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.

Small volumes of anti-EYA1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Rabbit polyclonal antibody to EYA1

Western Blot (WB)

WB (1/500 - 1/1000)

Western blot analysis of EYA1 expression in A549 (A), H9C2 (B) whole cell lysates.

EYA transcriptional coactivator and phosphatase 1

eyes absent homolog 1

Eyes absent homolog 1

EYA1_HUMAN

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

Chromosomal Location of Human Ortholog: 8q13.3

Cellular Component: cytoplasm; nucleus

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

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

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

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