| Primary Identifier | IPR033031 | Type | Family |
| Short Name | Scc2/Nipped-B |
| description | This entry represents the Nipped-B protein and its homologues, including Mis4 from fission yeast, Scc2 from budding yeast and Nipbl from zebrafish and Nipped-B from Drosophila. Budding yeast Scc2 is known to be part of the loader for the cohesion to be loaded onto the chromosome []. It has also been shown to regulate gene expression independent of cohesin [].Drosophila melanogaster Nipped-B protein is a chromatin binding protein that is involved in sister chromatid cohesion. Nipped-B and its Mau-2 partner are required for cohesin to associate with chromosomes []. The Drosophila Nipped-B has also been shown to regulate gene expression []. The zebrafish Nipbl has also been shown to regulate transcription. Nipbl has the ability to interact with other molecules such as histone deacetylases, HP-1gamma, and chromatin remodelling factors. It has been suggested that Nipbl is a cohesin-asociated scaffold protein that have functions other than loading cohesin []. Mutations in the human NIPBL (Nipped-B-like) gene cause Cornelia de Lange syndrome 1 (CDLS1), a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems []. |
