菜单 基因医生

这个基因编码一个转录因子家族成员。ets蛋白调节许多靶基因，这些靶基因调节细胞生长、血管生成、迁移、增殖和分化等生物学过程。所有的ets蛋白都含有一个ets-dna结合域，该域结合到含有共识5’-cgga[at]-3’的dna序列。该基因编码的蛋白质除了在C末端区域的ets-dna结合域外，在N末端区域还含有一个保守的短酸性激活域（tad）。该基因参与染色体易位，导致多个融合蛋白，包括Erwing肉瘤中的ews-etv1和前列腺癌中至少10个etv1伙伴（见pmid:19657377，表1）。除染色体重排外，该基因在前列腺癌、黑色素瘤和胃肠道间质瘤中过表达。已经鉴定出编码不同亚型的多个选择性剪接转录变体。
This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.