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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TBP - TATA-box Binding Protein
Alias:
HDL4
TBP1
GTF2D
SCA17
TFIID
GTF2D1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
RNA聚合酶II的转录起始需要超过70种多肽的活动。协调这些活动的蛋白质是转录因子IID(TFIID),它结合核心启动子以正确定位聚合酶,作为转录复合物的其余部分组装的支架,并作为调节信号的通道。TFIID由TATA结合蛋白(TBP)和一组进化保守的蛋白质组成,称为TBP相关因子或TAFs。TAFs可能参与基础转录,作为协同激活物,在启动子识别中发挥作用,或者修改通用转录因子(GTFs)以促进复合物组装和转录起始。此基因编码TBP,即TATA结合蛋白。TBP的一个显著特征是在N-端有一长串谷氨酰胺。该蛋白质的这一区域调节C端部的DNA结合活性,而DNA结合的调节影响转录复合物形成和转录起始的速度。编码聚谷氨酰胺序列的CAG重复次数通常为25-42,而重复次数扩大到45-66会增加聚谷氨酰胺串的长度,并与脊髓小脑性共济失调17,一种被归类为聚谷氨酰胺疾病的神经退行性疾病相关。已发现此基因的两个转录变异体,编码不同的异构体。[RefSeq,2016年7月提供]
Related ID:
NCBI:6908
ENSEMBL:ENSG00000112592
HGNC:11588
UNIPROT:P20226
OMIM:600075
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6908
2
8
18491 bp
37.70
39
2
8
43
TBP Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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