BDP1 (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB)
- symbol:
- BDP1
- locus group:
- protein-coding gene
- location:
- 5q13.2
- gene_family:
- SANT/Myb domain containing
- alias symbol:
- TFIIIB150|TFC5|TFIIIB90|KIAA1689|HSA238520|KIAA1241
- alias name:
- None
- entrez id:
- 55814
- ensembl gene id:
- ENSG00000145734
- ucsc gene id:
- uc003kbp.2
- refseq accession:
- NM_018429
- hgnc_id:
- HGNC:13652
- approved reserved:
- 2000-09-27
BDP1（B double prime 1，也称为TFIIIB150或BRF2复合物亚基）是RNA聚合酶III（Pol III）转录起始复合物的核心组成部分，属于TFIIIB转录因子家族。该基因家族主要负责调控Pol III介导的小分子RNA（如tRNA、5S rRNA、U6 snRNA等）的转录。BDP1通过与BRF2和TBP（TATA结合蛋白）形成TFIIIB复合物，帮助Pol III准确识别启动子并启动转录。BDP1的生物学功能主要体现在维持转录起始复合物的稳定性及招募Pol III至特定基因位点。其主要作用位点是Pol III依赖型基因的启动子区域，如type 2（如5S rRNA）和type 3（如U6 snRNA）启动子。若BDP1发生功能丧失性突变，可能导致Pol III转录活性下降，影响tRNA和rRNA的合成，进而干扰蛋白质翻译、细胞增殖等基础生命活动。研究表明，BDP1异常与某些癌症（如乳腺癌、肺癌）的发生相关，可能因其调控的ncRNA（非编码RNA）参与肿瘤信号通路。BDP1过表达可能增强Pol III转录，导致核糖体生物合成过度激活，促进细胞异常增殖；而表达降低则可能引发转录缺陷，影响细胞代谢稳态。BDP1所属的TFIIIB家族成员（如BRF1、BRF2）均具有保守的蛋白互作结构域，通过结合TBP和DNA协同调控Pol III转录。专业术语解释：Pol III（RNA聚合酶III）负责转录小分子RNA；TFIIIB（转录因子IIIB）是Pol III的通用转录因子；启动子（promoter）是基因转录起始的DNA序列。目前中文术语"B double prime 1"多直译为BDP1，但需注意其与BRF1/BRF2的功能区分。
The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of BDP1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for BDP1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Gene Expression |
| RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription |
| 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 |
| Transcription |
| Disease | Score | NofPmids | NofSnps | Source |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
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