RBPJ

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

Recombination Signal Binding Protein For Immunoglobulin Kappa J Region

Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380).
Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).
Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).

Biological Process angiogenesisISS:BHF-UCL
Biological Process aortic valve developmentIEA:Ensembl
Biological Process arterial endothelial cell fate commitmentIEA:Ensembl
Biological Process atrioventricular canal developmentISS:BHF-UCL
Biological Process auditory receptor cell fate commitmentIEA:Ensembl
Biological Process B cell differentiationIEA:Ensembl
Biological Process blood vessel endothelial cell fate specificationISS:BHF-UCL
Biological Process blood vessel lumenizationISS:BHF-UCL
Biological Process blood vessel remodelingIEA:Ensembl
Biological Process cardiac left ventricle morphogenesisISS:BHF-UCL
Biological Process cardiac muscle cell myoblast differentiationISS:BHF-UCL
Biological Process club cell differentiationIEA:Ensembl
Biological Process defense response to bacteriumIEA:Ensembl
Biological Process dorsal aorta morphogenesisISS:BHF-UCL
Biological Process endocardium morphogenesisISS:BHF-UCL
Biological Process epidermal cell fate specificationIEA:Ensembl
Biological Process epithelial cell proliferationIEA:Ensembl
Biological Process epithelial to mesenchymal transitionISS:BHF-UCL
Biological Process epithelial to mesenchymal transition involved in endocardial cushion formationISS:BHF-UCL
Biological Process hair follicle maturationIEA:Ensembl
Biological Process humoral immune responseIEA:Ensembl
Biological Process inflammatory response to antigenic stimulusIEA:Ensembl
Biological Process keratinocyte differentiationIEA:Ensembl
Biological Process labyrinthine layer blood vessel developmentISS:BHF-UCL
Biological Process myeloid dendritic cell differentiationIEA:Ensembl
Biological Process negative regulation of cell differentiationIEA:Ensembl
Biological Process negative regulation of cold-induced thermogenesisBy SimilarityISS:YuBioLab
Biological Process negative regulation of ossificationISS:BHF-UCL
Biological Process negative regulation of stem cell proliferationIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process Notch signaling involved in heart developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process Notch signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process outflow tract morphogenesisISS:BHF-UCL
Biological Process pituitary gland developmentIEA:Ensembl
Biological Process positive regulation of BMP signaling pathwayISS:BHF-UCL
Biological Process positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitmentIEA:Ensembl
Biological Process positive regulation of cardiac muscle cell proliferationISS:BHF-UCL
Biological Process positive regulation of cell proliferation involved in heart morphogenesisISS:BHF-UCL
Biological Process positive regulation of ephrin receptor signaling pathwayISS:BHF-UCL
Biological Process positive regulation of epithelial cell proliferationIEA:Ensembl
Biological Process positive regulation of ERBB signaling pathwayISS:BHF-UCL
Biological Process positive regulation of gene expressionISS:BHF-UCL
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription of Notch receptor targetManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process pulmonary valve developmentIEA:Ensembl
Biological Process regulation of reproductive processIEA:Ensembl
Biological Process regulation of timing of cell differentiationIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process sebaceous gland developmentIEA:Ensembl
Biological Process secondary heart field specificationIEA:Ensembl
Biological Process somatic stem cell population maintenanceIEA:Ensembl
Biological Process somitogenesisIEA:Ensembl
Biological Process stem cell proliferationIEA:Ensembl
Biological Process ventricular septum morphogenesisIEA:Ensembl
Biological Process ventricular trabecula myocardium morphogenesisISS:BHF-UCL

Nucleus
Cytoplasm
Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.

Adams-Oliver syndrome 3 (AOS3):
An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.