NIPBL Antibody – Goat Polyclonal

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; chromatin

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

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

Disease: Cornelia De Lange Syndrome 1