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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]
[中文简述(自动翻译):]  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]
TBP基因(以及对应的蛋白质)的细胞分布位置:
TBP基因的本体(GO)信息:
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 |
Neurodegenerative Disorders | 0.002985861 | 11 | 0 | BeFree |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Dystonia, Primary | 0.002638474 | 1 | 0 | BeFree_GAD |
Cardiac Arrest | 0.002442977 | 9 | 0 | BeFree |
Myoclonic Cerebellar Dyssynergia | 0.002367032 | 1 | 0 | GAD |
Restless Legs Syndrome | 0.002367032 | 1 | 0 | GAD |
Genomic Instability | 0.002367032 | 1 | 0 | GAD |
Dentatorubral-Pallidoluysian Atrophy | 0.002171535 | 8 | 0 | BeFree |
Parkinsonian Disorders | 0.001628651 | 6 | 0 | BeFree |
Chorea | 0.000814326 | 3 | 0 | BeFree |
Presenile dementia | 0.000814326 | 3 | 0 | BeFree |
Machado-Joseph Disease | 0.000814326 | 3 | 0 | BeFree |
Neurologic Symptoms | 0.000814326 | 3 | 0 | BeFree |
Progressive cerebellar ataxia | 0.000814326 | 3 | 0 | BeFree |
Dementia | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000542884 | 2 | 0 | BeFree |
Dystonia | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Seizures | 0.000542884 | 2 | 0 | BeFree |
Hereditary spherocytosis | 0.000542884 | 2 | 0 | BeFree |
Vitiligo | 0.000542884 | 2 | 0 | BeFree |
Ataxic | 0.000542884 | 2 | 0 | BeFree |
Pallidoluysian degeneration | 0.000542884 | 2 | 0 | BeFree |
Dystonia Disorders | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
SPHEROCYTOSIS, TYPE 1 (disorder) | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Ataxias, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dystonia Musculorum Deformans | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Muscle Rigidity | 0.000271442 | 1 | 0 | BeFree |
Myoclonus | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
Embryonal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Psychiatric symptom | 0.000271442 | 1 | 0 | BeFree |
Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cerebellar degeneration | 0.000271442 | 1 | 0 | BeFree |
Sclerosis of the skin | 0.000271442 | 1 | 0 | BeFree |
Autosomal dominant hereditary disorder | 0.000271442 | 1 | 0 | BeFree |
Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
New Variant Creutzfeldt-Jakob Disease | 0.000271442 | 1 | 0 | BeFree |
Multiple System Atrophy | 0.000271442 | 1 | 0 | BeFree |
Benign Hereditary Chorea | 0.000271442 | 1 | 0 | BeFree |
Involuntary Movements | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dystonias, Sporadic | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
HUNTINGTON DISEASE-LIKE 1 | 0.000271442 | 1 | 0 | BeFree |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
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