NIPBL : NIPBL cohesin loading factor
Description
The NIPBL (NIPBL cohesin loading factor) is a protein-coding gene located on chromosome 5.
The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Delangin helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The sister chromatids are attached to one another during the early stages of cell division by a group of proteins known as the cohesin complex. Delangin plays a critical role in the regulation of this complex. Specifically, it controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids. Researchers believe that delangin, as a regulator of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.
The NIPBL protein plays a crucial role in loading the cohesin complex onto DNA. It forms a heterodimeric complex with MAU2/SCC4, known as the cohesin loading complex, which facilitates the attachment of the cohesin complex to chromatin. NIPBL is involved in cohesin loading at sites of DNA damage, particularly at double-strand breaks (DSBs) and UV irradiation-induced damage sites. Its recruitment to these sites is dependent on specific factors like CBX3, RNF8, and RNF168. In collaboration with ZNF609, NIPBL promotes cortical neuron migration during brain development by regulating the transcription of essential genes involved in this process. It preferentially binds to promoters with paused RNA polymerase II and upregulates the expression of genes like SEMA3A, NRP1, PLXND1, and GABBR2.
NIPBL is also known as CDLS, CDLS1, IDN3, IDN3-B, Scc2.
