NIPBL Proteins

Protein Summary

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 mental retardation. Two transcript variants encoding different isoforms have been found for this gene.

Alternative names and synonyms associated with NIPBL

• NIPBL, cohesin loading factor (NIPBL) antibody
• Nipped-B homolog-like (NIPBLL) antibody
• NIPBL, cohesin loading factor S homeolog (nipbl.S) antibody
• Nipped-B homolog-like (LOC427439) antibody
• nipped-B homolog b (Drosophila) (nipblb) antibody
• Show all gene names
• nipped-B-like protein A (LOC100164947) antibody
• NIPBL, cohesin loading factor (nipbl) antibody
• Nipped-B homolog (Drosophila) (Nipbl) antibody
• NIPBL, cohesin loading factor (Nipbl) antibody

• 4921518A06Rik antibody
• 4933421G18Rik antibody
• C79399 antibody
• CDLS antibody
• CDLS1 antibody
• Show all synonym aliases
• Idn3 antibody
• IDN3-B antibody
• NIPBL antibody
• nipbla antibody
• scc2 antibody
• scc2-2 antibody
• SCC2W antibody
• wu:fi33d08 antibody

Protein level used designations for NIPBL

SCC2 homolog , delangin , nipped-B-like protein , sister chromatid cohesion 2 homolog , Nipped-B homolog , Scc2-2A , Scc2-2B , sister chromatid cohesion establishment factor 2 , Nipped-B homolog (Drosophila) , nipped-B like a , nipped-B-like protein B , nipped-B-like protein-like , delangin homolog , LOW QUALITY PROTEIN: nipped-B-like protein