Nipped-B homolog (Drosophila)

Symbol

NIPBL (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
pqn-85 Caenorhabditis elegans
Nipped-B Drosophila melanogaster
nipblb Danio rerio
Nipbl Mus musculus
Nipbl Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3758 Gene expression of NIPBL increases with age Molecular skin Human NIPBL —

GO Terms

GO IDGO TermGO Category
GO:0000122 negative regulation of transcription from RNA polymerase II promoter biological_process
GO:0001656 metanephros development biological_process
GO:0003007 heart morphogenesis biological_process
GO:0003151 outflow tract morphogenesis biological_process
GO:0006974 response to DNA damage stimulus biological_process
GO:0007049 cell cycle biological_process
GO:0007064 mitotic sister chromatid cohesion biological_process
GO:0007420 brain development biological_process
GO:0007605 sensory perception of sound biological_process
GO:0031065 positive regulation of histone deacetylation biological_process
GO:0034088 maintenance of mitotic sister chromatid cohesion biological_process
GO:0034613 cellular protein localization biological_process
GO:0035117 embryonic arm morphogenesis biological_process
GO:0035140 arm morphogenesis biological_process
GO:0035261 external genitalia morphogenesis biological_process
GO:0040018 positive regulation of multicellular organism growth biological_process
GO:0042471 ear morphogenesis biological_process
GO:0042634 regulation of hair cycle biological_process
GO:0045444 fat cell differentiation biological_process
GO:0045778 positive regulation of ossification biological_process
GO:0045892 negative regulation of transcription, DNA-dependent biological_process
GO:0045995 regulation of embryonic development biological_process
GO:0048557 embryonic digestive tract morphogenesis biological_process
GO:0048589 developmental growth biological_process
GO:0048592 eye morphogenesis biological_process
GO:0048638 regulation of developmental growth biological_process
GO:0048703 embryonic viscerocranium morphogenesis biological_process
GO:0050890 cognition biological_process
GO:0060325 face morphogenesis biological_process
GO:0061010 gall bladder development biological_process
GO:0061038 uterus morphogenesis biological_process
GO:0071481 cellular response to X-ray biological_process
GO:0005634 nucleus cellular_component
GO:0032116 SMC loading complex cellular_component
GO:0005515 protein binding molecular_function
GO:0008022 protein C-terminus binding molecular_function
GO:0042826 histone deacetylase binding molecular_function
GO:0047485 protein N-terminus binding molecular_function
GO:0070087 chromo shadow domain binding molecular_function