NIPBL

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 cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NIPBL, Cohesin Loading Factor

Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604).
Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679).
Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).

Brain developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular protein localizationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to DNA damage stimulusManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to X-rayManual Assertion Based On ExperimentIMP:UniProtKB
CognitionManual Assertion Based On ExperimentIMP:BHF-UCL
Cohesin loadingManual Assertion Based On ExperimentIDA:UniProtKB
Developmental growthManual Assertion Based On ExperimentIMP:BHF-UCL
Digestive tract developmentManual Assertion Based On ExperimentIBA:GO_Central
Ear morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Embryonic digestive tract morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Embryonic forelimb morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Embryonic viscerocranium morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Establishment of mitotic sister chromatid cohesionManual Assertion Based On ExperimentIBA:GO_Central
Establishment of protein localization to chromatinManual Assertion Based On ExperimentIBA:GO_Central
External genitalia morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Eye morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Face morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Fat cell differentiationIEA:Ensembl
Forelimb morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Gall bladder developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Heart morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Maintenance of mitotic sister chromatid cohesionManual Assertion Based On ExperimentIMP:UniProtKB
Metanephros development1 PublicationNAS:BHF-UCL
Mitotic cohesin loadingIEA:InterPro
Mitotic sister chromatid cohesionManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:BHF-UCL
Outflow tract morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of histone deacetylationManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of multicellular organism growthIEA:Ensembl
Positive regulation of neuron migrationISS:UniProtKB
Positive regulation of ossificationIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Regulation of developmental growthManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of embryonic developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of hair cycleManual Assertion Based On ExperimentIMP:BHF-UCL
Replication-born double-strand break repair via sister chromatid exchangeManual Assertion Based On ExperimentIBA:GO_Central
Sensory perception of soundManual Assertion Based On ExperimentIMP:BHF-UCL
Stem cell population maintenanceIEA:Ensembl
Uterus morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL

Nucleus
Chromosome

Cornelia de Lange syndrome 1 (CDLS1):
A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.