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  4. Recombinant Human Eyes absent homolog 1 (EYA1)

Recombinant Human Eyes absent homolog 1 (EYA1)

  • 中文名称：
    人EYA1重组蛋白
  • 货号：
    CSB-YP857862HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人EYA1重组蛋白
  • 货号：
    CSB-EP857862HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人EYA1重组蛋白
  • 货号：
    CSB-EP857862HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人EYA1重组蛋白
  • 货号：
    CSB-BP857862HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人EYA1重组蛋白
  • 货号：
    CSB-MP857862HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    EYA1
  • Uniprot No.：
  • 别名：
    BOP; BOR; BOS1; EYA transcriptional coactivator and phosphatase 1; Eya1; EYA1_HUMAN; Eyes absent 1; Eyes absent 1 homolog; Eyes absent homolog 1 (Drosophila); Eyes absent homolog 1; Eyes absent homolog1; MGC141875; OFC1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-592
  • 氨基酸序列
    MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2.
  • 基因功能参考文献：
    1. SIX1/EYA1 mutations might be partially responsible for conotruncal heart defects. PMID: 29043394
    2. These results identify the conserved arginine residues of EYA1 that play an important role for its activity, thus implicating arginine methylation as a novel regulatory mechanism of EYA function. PMID: 28213359
    3. A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing PMID: 28583505
    4. Results found that EYA1 affects FBW7-Myc binding to regulate the FBW7-mediated Myc degradation machinery in breast cancer cells. PMID: 27795300
    5. miR-101 is downregulated in breast cancer, and can inhibit cell proliferation and promote apoptosis by targeting EYA1 through the Notch signaling pathway. PMID: 27082308
    6. Association between EYA1 three SNPs and NSOCs and suggested that maternal environmental tobacco smoke, common cold history, and alcohol consumption. PMID: 25640282
    7. Our findings implicate this EYA1 partial duplication segregating with branchiootic phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the Branchiootorenal syndrome/BO syndrom PMID: 25926005
    8. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.[review] PMID: 24730701
    9. we proved that the branchiooto (BO) syndrome in these cases was caused by germinal mosaicism of the EYA1 gene in either the mother or father. PMID: 25780253
    10. PI3K/Akt signaling enhances Eya1 transcription activity, which largely attributes to the phosphorylation-induced reduction of Eya1 SUMOylation. PMID: 24954506
    11. Low EYA1 expression is associated with gastric carcinoma. PMID: 24729159
    12. results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and nonsyndromic orofacial clefts. PMID: 23601008
    13. The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter. PMID: 23636126
    14. Novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population. PMID: 23840632
    15. A novel EYA1 splice site mutation was found to be associated with Branchio-Oto-Renal Syndrome and focal glomerulosclerosis. PMID: 23506628
    16. EYA1 is efficiently degraded during mitotic exit in a ANAPC1-dependent manner and these two proteins physically interact. PMID: 23263983
    17. Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome. PMID: 22447252
    18. A 23 year old woman with Branchio-oto-renal syndrome presented with a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene. PMID: 21955869
    19. Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5. PMID: 21280147
    20. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome. PMID: 20979191
    21. Data report the identification of the related proteins Sipl1 (Shank-interacting protein-like 1) and Rbck1 (RBCC protein interacting with PKC1) as novel interaction partners of Eya1. PMID: 20956555
    22. Hypomethylation of EYA1 in microtia may be related to the pathogenesis of the disease. PMID: 20209935
    23. Mutations in the EYA1 gene have been identified in both branchio-oto and branchio-oto-renal syndromes. PMID: 11683347
    24. Defective protein-protein interactions of mutations in the EYA domain underlie brachio-oto-renal syndrome. PMID: 11950062
    25. These results suggest that the S189G mutation is a candidate mutation for Branchio-Oto syndrome. PMID: 12701758
    26. three Six1 mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding PMID: 15141091
    27. EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome. PMID: 15493068
    28. Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene. PMID: 16005355
    29. Point mutations altering the EYA1 reading frame, can be found in patients with oto-facio-cervical syndrome. PMID: 16441263
    30. A novel EYA1 mutation was identified in a newborn with laryngomalacia, glossoptosis, retrognathism, and funnel chest. PMID: 16691597
    31. We report a second Korean family with branchio-oto-renal syndrome with a novel nonsense EYA1 mutation PMID: 17049623
    32. Four EYA1 mutations provide a molecular diagnosis of branchio-oto-renal syndrome in five out of six Danish families. PMID: 17637804
    33. results indicate that mutations in EYA1 and TCF2 rarely result in an isolated Congenital anomalies of the kidney and urinary tract (CAKUT) phenotype. PMID: 18065799
    34. EYA1 mutations were found in 31% of families fitting established clinical criteria for branchio-oto-renal syndrome (BOR) and 7% of families with questionable BOR phenotype PMID: 18220287
    35. A mutation suggests that certain transcripts of EYA1 escape nonsense-mediated decay and encode truncated EYA proteins that may be capable of dominant-negative interactions producing distinct phenotypic features within the BOR spectrum. PMID: 19206155
    36. Familial transmission of Goldenhar syndrome is not due to mutations in EYA1. PMID: 19213029
    37. A novel one-base-pair deletion in the EYA1 gene, resulting in a truncated protein (c.321delT; p.Ala107fs), was found in Korean males with Branchio-oto-renal syndrome. PMID: 19667416
    38. miR-562 expression is reduced in Wilms' tumor and may contribute to tumorigenesis by deregulating target gene EYA1. PMID: 19789318

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  • 相关疾病：
    Branchiootorenal syndrome 1 (BOR1); Otofaciocervical syndrome 1 (OTFCS1); Branchiootic syndrome 1 (BOS1); Anterior segment anomalies with or without cataract (ASA)
  • 亚细胞定位：
    Cytoplasm. Nucleus.
  • 蛋白家族：
    HAD-like hydrolase superfamily, EYA family
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 3519

    OMIM: 113650

    KEGG: hsa:2138

    STRING: 9606.ENSP00000342626

    UniGene: Hs.444971