2024年12月25日 · NSD1 (Nuclear Receptor Binding SET Domain Protein 1) is a Protein Coding gene. Diseases associated with NSD1 include Sotos Syndrome and Beckwith-Wiedemann Syndrome. Among its related pathways are PKMTs methylate histone lysines and …

NSD1在胚胎早期发育中起调节作用，其表达异常与Sotos 综合症密切相关。 我们解析了NSD1催化中心与甲基供体复合物1.7 Å分辨率的三维晶体结构（图2A），并通过计算机动力学模拟了其与底物核小体之间的作用方式（图2B）。 通过结构分析及比对，寻找到一个关键的调节loop（图2C），NSD1与核小体结合后可诱导该loop区域的构象变化，开启H3K36与活性中心甲基供体间的相互作用。 这些对我们理解NSD1以核小体为底物的底物特异性、 甲基转移酶 作用机理以及 …

nsd家族包括nsd1、nsd2(又称为mmset或whsc1)和nsd3(又称为whsc1l1)三个成员，在多种疾病的发生和发展中都发挥着重要作用。比如，nsd1功能突变和缺失会引起索托氏综合征，nsd2的单倍体不足会导致心脏缺陷等。此外，研究表明nsds的过度表达和改变与许多癌症相关。

Recurrent epigenomic alterations associated with multiple human pathologies have increased the interest in the nuclear receptor binding SET domain protein 1 (NSD1) lysine methyltransferase. Here, we review the current knowledge about the biochemistry, cellular function and role of NSD1 in human diseases.

2024年2月13日 · NSD1 is a histone methyltransferase that catalyzes histone H3 lysine 36 di-methylation (H3K36me 2); mutations inactivating NSD1 have been linked to improved outcomes in...

2022年9月27日 · NSD蛋白家族(nuclear receptor binding SET domain proteins)包含三个成员: NSD1、NSD2(又名MMSET或WHSC1)和NSD3(又名WHSC1L1) ，是与肿瘤发生相关的组蛋白甲基化转移酶，对维持染色质稳定和基因表达调控具有重要作用[1]。

The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape.

NSD1 (Nuclear receptor binding SET Domain Protein 1) [5] is a transcription coregulator protein [6] that encodes Histone Methyltransferase and is associated with Sotos syndrome [7] and Weaver syndrome.

HGNC Approved Gene Symbol: NSD1. Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38) : 5:177,131,798-177,300,213 (from NCBI) The androgen receptor (AR; 313700) is a member of the steroid receptor (SR) superfamily that interacts with DNA response elements.

2023年12月26日 · Here we showed that NSD1, the methyltransferase for di-methylated lysine 36 of histone H3 (H3K36me2), controls both area and layer identities of the neocortex. Nsd1 -ablated neocortex showed an area shift of all four primary functional regions and aberrant wiring of cortico-thalamic-cortical projections.