菜单 基因医生

rna聚合酶ii启动转录需要70多种多肽的活性。协调这些活动的蛋白质是基础转录因子tfiid,它与核心启动子结合以正确定位聚合酶,充当组装其余转录复合物的支架,并充当调控信号的通道。tfiid由tata结合蛋白(tbp)和一组进化上保守的蛋白质(tbp相关因子或taf)组成。tafs可能参与基础转录,充当协同激活因子,在启动子识别中发挥作用,或修饰一般转录因子(gtfs),以促进复杂的组装和转录起始。这个基因编码tfiid的最大亚单位。该亚单位与包含转录起始位点的核心启动子序列结合。它还与激活因子和其他转录调节因子结合,这些相互作用影响转录起始的速度。该亚单位在n-末端和c-末端含有两个独立的蛋白激酶结构域,但也具有乙酰转移酶活性,可作为泛素激活/结合酶。该基因突变导致肌张力障碍3,扭转,X连锁,一种肌张力障碍性帕金森病。该基因的选择性剪接导致多个转录变体。该基因是复杂转录单元(taf1/dyt3)的一部分,其中一些转录变体与taf1共享外显子以及其他下游dyt3外显子。[由RefSeq提供,2013年10月]

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

基因名:TAF1
别名:OF,XDP,BA2R,CCG1,CCGS,DYT3,KAT4,P250,NSCL2,TAF2A,MRXS33,N-TAF1,TAFII250,DYT3/TAF1,TAFII-250,TAF(II)250
基因ID:6872
Chromosome:
(GRCh37)
X Start: 70586094 End: 70685855 Strand: 
信号通路: DNA修饰及其它  组蛋白修饰  基因组不稳定 
TAF1 基因突变与药物