RBPJ (Recombination Binding Protein) is a transcription factor that mediates Notch signaling by binding to Notch response elements. This gene plays important roles in the nervous system and has been implicated in various aspects of neurodegenerative disease pathogenesis.
| RBPJ Gene | |
|---|---|
| Gene Symbol | RBPJ |
| Full Name | Recombination Signal Binding Protein for Immunoglobulin Kappa J Region |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 3516 |
| OMIM | 147183 |
| Ensembl ID | ENSG00000168214 |
| UniProt ID | Q06323 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Cancer |
RBPJ encodes a transcriptional repressor that recognizes the DNA sequence motif "GTGGGAA" found in the enhancers and promoters of various genes. It is the major mediator of Notch signaling, forming complexes with Notch intracellular domain to activate or repress Notch target genes. RBPJ also has Notch-independent functions in transcriptional regulation through interactions with other transcription factors.
| Disease | Role | Mechanism |
|---|---|---|
| Alzheimer's Disease | Modifier | Notch target gene dysregulation affects amyloid and tau pathology |
| Parkinson's Disease | Modifier | Notch signaling affects dopaminergic neuron survival |
| Cancer | Tumor Suppressor/Oncogene | Context-dependent role |
RBPJ is ubiquitously expressed with high levels in: