Nipped-B homolog (Drosophila) (NIPBL)

Name: NIPBL
Description: Nipped-B homolog (Drosophila)
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 5
GeneticSource: genomic
MapLocation: 5p13.2
OtherAliases: CDLS, CDLS1, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN3, IDN3-B, Scc2
OtherDesignations: SCC2 homolog|delangin|nipped-B-like|sister chromatid cohesion 2 homolog
NomenclatureSymbol: NIPBL
NomenclatureName: Nipped-B homolog (Drosophila)
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 5438
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. [provided by RefSeq]
ChrSort: 05
ChrStart: 36876860

UniProtein db: NIPBL UniProt protein knowledge database
Ensembl db: NIPBL Ensembl genome database

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