Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene. [5] NIPBL is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex. [6] Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome. [7]

Dec 25, 2024 · NIPBL (NIPBL Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange Syndrome. Among its related pathways are Cell Cycle, Mitotic and Mitotic Telophase/Cytokinesis.

为了克服粘连蛋白构象高度柔性的问题，研究人员对复合物样品进行了系统性地尝试和优化，最终获得稳定构象的粘连蛋白，NIPBL与72个碱基对双链DNA复合物的电镜结构。 粘连蛋白，NIPBL与DNA核心复合物结构分辨率为3.9埃，整体复合物结构分辨率为5.3埃。 整体结构可以分为三层 （图1）。 第一层由SMC1/3 HD和Coiled coil结构域以及RAD21 NHD和WHD结构域组成。 第二层由NIPBL以及结合的RAD21区域组成。 第三层由STAG1，与其结合的RAD21区域以及SMC1/3 …

作者分辨率为4.0 Å下使用3D重组技术获得人黏连蛋白-NIPBL-DNA复合物，能够借助单个亚基的晶体结构建立几乎完整的模型对复合物的核心（包括NIPBLC， RAD21 和SMC1-SMC3的ATPase HDs）进行了重点改进。 于是借助各个亚基的晶体结构建立一个几乎完整的模型。 人黏连蛋白由四个亚基组成：SMC1，SMC3，RAD21和STAG1或STAG2。 ATP同源酶SMC1和SMC3通过它们的铰链结构域异二聚化。 kleisin亚基RAD21（Scc1 / Mcd1 inyeast）连接其ATPase头部结构 …

Mar 10, 2023 · Here we have examined the effect of reducing NIPBL levels on the behavior of the two cohesin variants carrying STAG1 or STAG2 by combining a flow cytometry assay to measure chromatin-bound...

A cohesin-loading factor (NIPBL) is one of important regulatory factors in the maintenance of 3D genome organization and function, by interacting with a large number of factors, e.g. cohesion, CCCTC-binding factor (CTCF) or cohesin complex component. The present article overviews the critical and re …

Jan 18, 2018 · We demonstrate that NIPBL haploinsufficiency leads to upregulation of gene sets identified in functions related to nucleosome, chromatin assembly, RNA modification and downregulation of Wnt...

这些结果表明黏连蛋白-nipbl复合物是一种由atp驱动的能够进行dna环挤压的分子马达。 总之，这两项新的研究表明与黏连蛋白调节姐妹染色单体黏连在一起的方式不同，这种蛋白在环挤压过程中似乎不会在拓扑结构上捕获DNA。

Apr 14, 2023 · Here, we discuss recent research addressing how NIPBL modulates cohesin activities and how its mutation causes a developmental disorder, Cornelia de Lange Syndrome (CdLS). Cohesin is an evolutionarily conserved complex that belongs to the Structural Maintenance of Chromosomes (SMC; see Glossary) family.

The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Learn about this gene and related health conditions.