2024年12月25日 · UBTF (Upstream Binding Transcription Factor) is a Protein Coding gene. Diseases associated with UBTF include Neurodegeneration, Childhood-Onset, With Brain Atrophy and Rare Syndromic Intellectual Disability. Among its related pathways are RNA Polymerase I Promoter Opening and RNA Polymerase I Transcription Termination.

核仁转录因子1 （Nucleolar transcription factor 1）又叫 上游结合转录因子 （Upstream binding transcription factor，缩写 UBTF）或 上游结合因子1 （Upstream binding factor 1，缩写 UBF1）是一种由人类 基因 UBTF 所编码的 蛋白质 [1][2]。 UBTF是 18S 、 5.8S 和 28S的核糖体RNA 的转录所必须的转录因子，和SL1因子（一个四聚体，包括一个 TATA结合蛋白 和3个转录辅助因子 TAF1 （英语：TAF1））共同起作用。 在人体中存在94和97kD的两种UBF多肽链。

UBTF is a nucleolar phosphoprotein with both DNA binding and transactivation domains. Sequence-specific DNA binding to the core and upstream control elements of the human rRNA promoter is mediated through several HMG boxes.

上游结合因子1 （Upstream binding factor 1，缩写 UBF1 ）是一种由人类 基因 UBTF 所编码的 蛋白质 。 UBTF是18S、5.8S和28S的 核糖体RNA 的转录所必须的转录因子，和SL1因子（一个四聚体，包括一个TBP，即 TATA结合蛋白 和3个转录辅助因子 TAF1 ）共同起作用。

2024年2月15日 · UBTF, a nucleolar protein, plays an important role in ribosomal RNA (rRNA) synthesis, nucleolar integrity, and cell survival. This variant causes unstable preinitiation complexes to form, resulting in altered rDNA chromatin structures, rRNA dysregulation, DNA damage, and ultimately, neurodegeneration.

UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia. UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome. UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia.

2023年4月21日 · Tandem duplications (TDs) of the UBTF gene have been recently described as a recurrent alteration in pediatric acute myeloid leukemia (AML). Here, by screening 1946 newly diagnosed adult AML, we...

该基因编码 HMG-box DNA 结合蛋白家族的成员。 编码的蛋白质在核糖体 RNA 转录中起着关键作用，作为预启动复合物的关键成分，介导 RNA 聚合酶 I 募集到 rDNA 启动子区域。 编码的蛋白质也可能在染色质重塑和前 rRNA 加工中发挥重要作用，其活性受磷酸化和乙酰化的调节。 已经观察到该基因编码多种亚型的可变剪接转录物变体。 该基因的假基因位于 3 号、11 号和 X 号染色体的短臂以及 11 号染色体的长臂上。 [RefSeq 提供，2011 年 8 月] This gene encodes a …

2024年12月9日 · Upstream binding factor (UBF) is a transcription factor required for expression of the 18S, 5.8S, and 28S ribosomal RNAs, along with SL1 (a complex of TBP (600075) and multiple TBP-associated factors or 'TAFs'). Two UBF polypeptides, of 94 and 97 kD, exist in the human (Bell et al., 1988).

Upstream binding transcription factor (UBTF, also called UBF) is thought to function exclusively in RNA polymerase I (Pol I)-specific transcription of the ribosomal genes. Here, we report that the two isoforms of UBTF (UBTF1/2) are also enriched at highly expressed Pol II-transcribed genes throughout the mouse genome.