NIPBL cDNA Clone – Nipped-B Homolog (Drosophila) (Human)

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. [provided by RefSeq, Jul 2008]

NIPBL: a chromatin protein involved in sister chromatid cohesion. Interacts directly with CBX5 via the PxVxL motif, which is required for interaction with chromoshadow domains. Defects in NIPBL are the cause of Cornelia de Lange syndrome (CDL). CDL is a dominantly inherited multisystem developmental disorder. Three alternatively spliced isoforms have been reported.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 5p13.2

Cellular Component: nucleoplasm; nucleus

Molecular Function: histone deacetylase binding; protein binding; protein C-terminus binding; protein N-terminus binding

Biological Process: brain development; cognition; developmental growth; ear morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; external genitalia morphogenesis; eye morphogenesis; forelimb morphogenesis; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; mitotic sister chromatid cohesion; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of histone deacetylation; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; response to DNA damage stimulus; sensory perception of sound

Disease: Cornelia De Lange Syndrome 1