TBP (TATA-box binding protein)
- symbol:
- TBP
- locus group:
- protein-coding gene
- location:
- 6q27
- gene_family:
- General transcription factors
- alias symbol:
- TFIID|TBP1
- alias name:
- Spinocerebellar ataxia 17
- entrez id:
- 6908
- ensembl gene id:
- ENSG00000112592
- ucsc gene id:
- uc011ehf.3
- refseq accession:
- NM_003194
- hgnc_id:
- HGNC:11588
- approved reserved:
- 1993-05-26
TBP（TATA框结合蛋白，TATA-box binding protein）是一种关键的转录因子，负责启动基因的转录过程。它的主要功能是识别并结合DNA上的TATA框（一段富含T/A碱基的启动子序列），从而帮助招募RNA聚合酶II和其他转录相关蛋白，形成转录起始复合物（transcription initiation complex）。TBP是通用转录因子TFIID的核心组成部分，几乎参与所有依赖RNA聚合酶II的基因转录，因此对细胞的基本生命活动至关重要。TBP的表达产物是一种高度保守的蛋白质，具有独特的 saddle-shaped（马鞍形）结构，使其能够嵌入DNA的小沟并弯曲DNA，促进转录机器的组装。TBP的作用位点主要在基因的启动子区域，特别是含有TATA框的启动子。TBP的突变可能严重影响其DNA结合能力或与其他转录因子的相互作用，导致广泛的转录失调。例如，某些TBP突变与神经退行性疾病如脊髓小脑共济失调（SCA17）相关，患者表现为运动协调障碍和认知功能下降。此外，TBP表达异常也与多种癌症有关，因其调控的基因涉及细胞增殖和凋亡。TBP过表达可能导致转录活性异常升高，扰乱细胞正常功能，甚至促进肿瘤发生；而TBP表达降低则可能削弱基础转录水平，影响细胞存活或特定基因的表达谱。TBP属于TBP相关因子（TBP-associated factors，TAFs）家族，该家族成员共同参与形成TFIID复合物，协助TBP调控转录。TAFs家族的共性包括与TBP的相互作用能力以及对组织特异性或刺激依赖性转录的调控作用。某些TAFs还能独立于TBP调节特定基因的表达。TBP相关基因的突变或表达异常常影响发育过程，因其在胚胎发生中调控关键基因。例如，TBP在干细胞多能性维持中起重要作用，其表达失调可能影响分化潜能。
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (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 TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 32-39, and expansion of the number of repeats increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
由RNA聚合酶II转录起始需要70多个多肽的活动。它协调这些活动的蛋白质是转录因子的IID（TFIID），其结合到核心启动子正确定位聚合酶，作为支架的转录复合物的其余部分的组件，并作为调节信号的信道。 TFIID是由TATA结合蛋白（TBP）和一组被称为TBP相关因子或TAFS进化保守的蛋白质的。 TAFS可能参与基础转录，作为共激活因子，功能的启动子识别或修改一般转录因子（基转移酶），以方便复杂的组装和转录起始。该基因编码TBP，塔塔结合蛋白。 TBP的一个显着特点是在N端谷氨酰胺的长字符串。该蛋白质的该区域调制C末端的DNA结合活性，和DNA结合调制影响的转录复合物形成和转录起始速率。 CAG数重复编码多聚谷氨酰胺道通常是32-39，并且重复的次数的扩大增加了聚谷氨酰胺字符串的长度，并与脊髓小脑性共济失调17，归类为聚谷氨酰胺疾病神经变性疾病相关联。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2010年2月提供]
基因本体信息
TBP基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
TBP基因的本体（GO）信息：
| 名称 |
|---|
| 3022 Basal transcription factors [PATH:hsa03022] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5016 Huntington's disease [PATH:hsa05016] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Disease |
| Epigenetic regulation of gene expression |
| Gene Expression |
| HIV Infection |
| HIV Life Cycle |
| HIV Transcription Initiation |
| Infectious disease |
| Late Phase of HIV Life Cycle |
| Negative epigenetic regulation of rRNA expression |
| NoRC negatively regulates rRNA expression |
| RNA Polymerase I Chain Elongation |
| RNA Polymerase I Promoter Clearance |
| RNA Polymerase I Promoter Escape |
| RNA Polymerase I Transcription |
| RNA Polymerase I Transcription Initiation |
| RNA Polymerase I Transcription Termination |
| RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription |
| RNA Polymerase II HIV Promoter Escape |
| RNA Polymerase II Pre-transcription Events |
| RNA Polymerase II Promoter Escape |
| RNA Polymerase II Transcription |
| RNA Polymerase II Transcription Initiation |
| RNA Polymerase II Transcription Initiation And Promoter Clearance |
| RNA Polymerase II Transcription Pre-Initiation And Promoter Opening |
| RNA Polymerase III Abortive And Retractive Initiation |
| RNA Polymerase III Transcription |
| RNA Polymerase III Transcription Initiation |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter |
| SIRT1 negatively regulates rRNA Expression |
| Transcription |
| Transcription of the HIV genome |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| SPINOCEREBELLAR ATAXIA 17 | 0.441357209 | 5 | 1 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
| PARKINSON DISEASE, LATE-ONSET | 0.24 | 0 | 1 | CLINVAR_CTD_human |
| Ataxia, Spinocerebellar | 0.03403343 | 43 | 0 | BeFree_GAD_LHGDN |
| Huntington Disease | 0.013278246 | 9 | 0 | BeFree_GAD_LHGDN |
| Parkinson Disease | 0.013006804 | 7 | 0 | BeFree_GAD_LHGDN |
| Ataxia | 0.005352893 | 12 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Cerebellar Ataxia | 0.003724241 | 6 | 0 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.003181358 | 3 | 1 | BeFree_GAD |
| Schizophrenia | 0.003181358 | 3 | 0 | BeFree_GAD |
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