Aliases for RBPJ Gene
External Ids for RBPJ Gene
Previous HGNC Symbols for RBPJ Gene
Previous GeneCards Identifiers for RBPJ Gene
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]
GeneCards Summary for RBPJ Gene
RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region) is a Protein Coding gene. Diseases associated with RBPJ include adams-oliver syndrome 3 and adams-oliver syndrome 4. Among its related pathways are Signaling by GPCR and Downstream signaling events of B Cell Receptor (BCR). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is RBPJL.
UniProtKB/Swiss-Prot for RBPJ Gene
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. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).