DR1 (down-regulator of transcription 1)
- symbol:
- DR1
- locus group:
- protein-coding gene
- location:
- 1p22.1
- gene_family:
- alias symbol:
- NC2-BETA|NC2B|NCB2
- alias name:
- negative cofactor 2|negative cofac…
- entrez id:
- 1810
- ensembl gene id:
- ENSG00000117505
- ucsc gene id:
- uc001dpu.4
- refseq accession:
- NM_001938
- hgnc_id:
- HGNC:3017
- approved reserved:
- 1996-07-11
DR1（也称为TATA-binding protein-associated factor 1B或TAF1B）是一个编码蛋白质的基因，属于TATA结合蛋白相关因子（TAF）家族的一部分。这个基因家族的主要共性是参与转录起始复合物的形成，特别是与RNA聚合酶I相关的转录调控。DR1基因编码的蛋白质是RNA聚合酶I转录系统的重要组成部分，负责调控核糖体RNA（rRNA）的合成，从而影响细胞生长和增殖。DR1蛋白通过与TATA结合蛋白（TBP）和其他转录因子相互作用，帮助组装转录起始复合物，确保rRNA基因的高效表达。 DR1基因的突变可能会破坏其正常功能，导致rRNA合成减少，进而影响核糖体的生物合成和蛋白质翻译。这种功能缺陷可能引发细胞增殖异常，甚至与某些癌症或发育障碍相关。研究表明，DR1的表达水平异常（如过表达或降低表达）可能影响细胞的生长速率。过表达DR1可能导致rRNA过度合成，促进细胞异常增殖，可能与肿瘤发生有关；而DR1表达降低则可能抑制细胞生长，导致增殖迟缓或凋亡增加。 此外，DR1还与其他基因和信号通路相互作用，例如与p53肿瘤抑制蛋白的调控网络有关联。在某些癌症中，DR1的表达水平可能作为潜在的生物标志物或治疗靶点。由于DR1在核糖体生物合成中的关键作用，其功能异常可能影响多种细胞过程，包括代谢、应激反应和细胞周期调控。 总的来说，DR1基因在维持细胞稳态和增殖中发挥重要作用，其表达水平的异常可能对机体产生广泛影响，尤其是与癌症和发育相关的疾病。该基因所在的TAF家族成员普遍参与转录调控，但DR1更专注于RNA聚合酶I介导的rRNA合成，体现了基因家族功能的分工与协作。
This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of DR1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for DR1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Chromatin modifying enzymes |
| Chromatin organization |
| HATs acetylate histones |
| Disease | Score | NofPmids | NofSnps | Source |
| Neuroblastoma | 0.00272435 | 1 | 0 | LHGDN |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
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