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

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