Western Blot (WB)
(Western blot analysis of EYA1 expression in A549 (A), H9C2 (B) whole cell lysates.)
Rabbit EYA1 Polyclonal Antibody | anti-EYA1 antibody
Anti-EYA1 Antibody
Western Blot (WB)
(Western blot analysis of EYA1 expression in A549 (A), H9C2 (B) whole cell lysates.)
Western Blot (WB)
(Western blot analysis of EYA1 expression in A549 (A), H9C2 (B) whole cell lysates.)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on EYA1
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Product Notes
The EYA1 eya1 (Catalog #AAA8234246) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-EYA1 Antibody reacts with Human, Mouse, Rat, Monkey, Zebrafish and may cross-react with other species as described in the data sheet. AAA Biotech's EYA1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB (1/500 - 1/1000). Researchers should empirically determine the suitability of the EYA1 eya1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "EYA1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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