菜单 基因医生

该基因编码的蛋白质是一种单链dna结合蛋白,与多种dna元素结合,包括c-myc上游的远上游元素(fuse)。融合结合发生在非编码链上,对未分化细胞中c-myc的调节具有重要意义。该蛋白包含三个结构域,一个双亲螺旋N-末端结构域,一个DNA结合中心结构域,以及一个包含三个富含酪氨酸基序的C-末端反式激活结构域。n-末端结构域被认为抑制了c-末端结构域的活性。这种蛋白质也被认为与RNA结合,并含有3'-5'螺旋酶活性和DNA-DNA和RNA-RNA双工的体外活性。该基因在恶性肿瘤组织中有异常表达,对神经系统和肺的发育具有重要意义。这种蛋白与病毒rna的结合被认为在一些病毒性疾病中起作用,包括丙型肝炎和手足口病。选择性剪接导致多个转录变体。[由RefSeq提供,2014年12月]
The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

基因名:FUBP1
别名:FBP,FUBP,hDHV
基因ID:8880
Chromosome:
(GRCh37)
1 Start: 78409740 End: 78444839 Strand: 
信号通路: 细胞增殖 
FUBP1 基因突变与药物