FUBP1是抑癌基因,编码蛋白DNA结合蛋白,结合单链DNA,包括基因上游的DNA调节元件。与其结合的基序是远上游的元件(FUSE),位于MYC癌基因的上游。FUBP1对MYC的调控是复杂的:FUBP1的过表达可激活MYC基因的转录;也有报道称,FUBP1的失活突变激活了MYC的表达。FUBP1还可以结合RNA,例如FUBP1调节MDM2的剪接。据报道,在多种癌症中FUBP1的突变发生频率较低(<8%)(cBioPortal, Nov 3, 2015)。FUBP1是胶质瘤中最常见的突变基因,胶质瘤中经常出现1号染色体短臂(FUBP1基因即在此位置)的缺失。
The protein FUBP1, binds single-stranded DNA, including regulatory DNA elements upstream of genes. Among the motifs it binds is the far upstream element (FUSE), which is located upstream of the MYC oncogene. Regulation of MYC by FUBP1 is complex; while overexpression of FUBP1 can activate transcription of the MYC gene, it has also been reported that inactivating mutations of FUBP1 activate MYC expression. FUBP1 is also known to bind RNA, such as in order to regulate the splicing of MDM2, an important negative regulator of the tumor suppressor TP53. FUBP1 was reported to be mutated at relatively low frequency (<8%) across a variety of cancers. It is most frequently mutated in gliomas, which also show frequent deletion of 1p, where the FUBP1 gene is located.
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