Nipbl Gene Search Result

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3 records found for search term Nipbl

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1604032	NIPBL	NIPBL cohesin loading factor	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 ... (more) 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]	5	36876769	37066413	Human	614	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
9586206	NIPBL-DT	NIPBL divergent transcript	INTERACTS WITH acrolein; alpha-pinene; fipronil	5	36871361	36876694	Human	6	symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol	gene, ncrna, VALIDATED [RefSeq]
16559654	AP005902.1	Nipped-B homolog (Drosophila) (NIPBL) pseudogene					Human		name	gene, processed_pseudogene