Aliases for NIPBL Gene
External Ids for NIPBL Gene
Previous GeneCards Identifiers for NIPBL Gene
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for NIPBL Gene
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 Mitotic Telophase/Cytokinesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding.
UniProtKB/Swiss-Prot for NIPBL Gene
Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.