英文名稱    EYA1    

中文名稱    轉錄因子EYA1抗體    

別    名    BOP; BOR; Eya1; EYA1_HUMAN; eyes absent 1; eyes absent 1 homolog; eyes absent homolog 1 (Drosophila); Eyes absent homolog 1; eyes absent homolog1; MGC141875.    

供 應 商   遠慕生物

研究領域    發育生物學  表觀遺傳學      

抗體來源    Rabbit    

克隆類型    Polyclonal    

交叉反應    Human,     

產品應用    ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 轉錄因子EYA1抗體（石蠟切片需做抗原修復） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.    

分 子 量    65kDa    

細胞定位    細胞核 細胞漿     

性    狀    Lyophilized or Liquid    

濃    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human EYA1    

亞    型    IgG    

純化方法    affinity purified by Protein A    

儲 存 液    Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4    

保存條件    Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.    

轉錄因子EYA1抗體產品介紹    background:

A gene on chromosome 8q13.3 encodes EYA1 (eyes absent), a protein with 16 exons. EYA1 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serine-threonin)-rich amino terminal is highly divergent. EYA is expressed in flexor tendons and the developing central nervous system, kidney, eye and ear. EYA1 acts a transcriptional activator in connective tissue patterning through its PST domain, which functions as a transactivation domain. EYA1 plays a critical role in the development of the inner ear and kidney. EYA is involved in early inductive signaling, acting upstream of GDNF. EYA1 has been implicated in the autosomal dominant disorders branchio-oto-renal (BOR) syndrome and branhio-oto (BO) syndrome.

Function:
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.

Subunit:
Probably interacts with SIX2, SIX4 and SIX5.

Subcellular Location:
Cytoplasm. Nucleus. Localizes at sites of DNA damage at double-strand breaks.

Tissue Specificity:
In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Post-translational modifications:
Sumoylated by SUMO1.

DISEASE:
Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1) [MIM:113650]; 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) [MIM:166780]. 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) [MIM:602588]; 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. 

Similarity:
Belongs to the HAD-like hydrolase superfamily. EYA family.