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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 15|15 A1
Cellular Component:  chromatin; chromosome; integrator complex; nuclear chromatin; nuclear chromosome; nucleus; Scc2-Scc4 cohesin loading complex; SMC loading complex
Molecular Function:  chromatin binding; chromo shadow domain binding; histone deacetylase binding; mediator complex binding; protein binding; protein C-terminus binding; protein N-terminus binding
Biological Process:  brain development; cell cycle; cellular protein localization; cellular response to DNA damage stimulus; cellular response to X-ray; cognition; cohesin loading; developmental growth; double-strand break repair; ear morphogenesis; embryonic cranial skeleton morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; embryonic viscerocranium morphogenesis; establishment of mitotic sister chromatid cohesion; establishment of protein localization to chromatin; external genitalia morphogenesis; eye morphogenesis; face morphogenesis; fat cell differentiation; forelimb morphogenesis; gall bladder development; heart development; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; mitotic chromosome condensation; mitotic sister chromatid cohesion; multicellular organism development; negative regulation of transcription by RNA polymerase II; negative regulation of transcription, DNA-templated; outflow tract morphogenesis; positive regulation of histone deacetylation; positive regulation of mitotic cohesin loading; positive regulation of multicellular organism growth; positive regulation of neuron migration; positive regulation of ossification; positive regulation of transcription by RNA polymerase II; rDNA condensation; regulation of developmental growth; regulation of embryonic development; regulation of gene expression; regulation of hair cycle; regulation of transcription by RNA polymerase II; replication-born double-strand break repair via sister chromatid exchange; sensory perception of sound; stem cell population maintenance; transcriptional activation by promoter-enhancer looping; uterus morphogenesis
Reference #:  Q6KCD5 (UniProtKB)
Alt. Names/Synonyms: 4921518A06Rik; 4933421G18Rik; C79399; Delangin homolog; Idn3; Nipbl; Nipped-B homolog (Drosophila); Nipped-B-like protein; SCC2 homolog
Gene Symbols: Nipbl
Molecular weight: 315,450 Da
Basal Isoelectric point: 8.09  Predict pI for various phosphorylation states
Select Structure to View Below

NIPBL

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein