RBPJL: Recombination Signal Binding Protein for Immunoglobulin Kappa J Region Like
A transcriptional regulator involved in Notch signaling and pancreatic development
Gene Information Card
| Symbol | RBPJL |
|---|---|
| Full Name | Recombination Signal Binding Protein for Immunoglobulin Kappa J Region Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q12 |
| NCBI Gene ID | 11317 ncbi.nlm.nih.gov/gene/11317 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y2P4 |
| OMIM ID | 604673 |
| HGNC ID | 9927 |
| Aliases | RBP-J like, RBPJL, RBP-J kappa like |
Description
RBPJL encodes a protein that is a member of the CSL (CBF1/RBP-J kappa, Su(H), Lag-1) family of transcription factors. It acts as a transcriptional repressor in the absence of Notch signaling and can be converted to an activator upon Notch pathway activation. RBPJL is specifically expressed in the pancreas and plays a critical role in pancreatic development and exocrine function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | RBPJL is frequently mutated or downregulated in pancreatic ductal adenocarcinoma, potentially affecting Notch-mediated differentiation and proliferation. | COSMIC, ClinVar |
| Pancreatic agenesis | Homozygous loss-of-function mutations in RBPJL are associated with pancreatic agenesis and neonatal diabetes. | OMIM, ClinVar |
| Diabetes mellitus (neonatal) | RBPJL mutations impair pancreatic beta-cell development, leading to insulin deficiency. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 45.2 | High |
| Salivary gland | 2.1 | Low |
| Stomach | 1.5 | Low |
| Liver | 0.8 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 12.5 | Moderate expression |
| MIA PaCa-2 (pancreatic cancer) | 8.9 | Moderate expression |
| HeLa (cervical cancer) | 0.2 | Not detected |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of DNA-binding domain |
| c.567_568del (p.Glu190fs) | Frameshift | <1% | Loss of function; premature termination |
| c.890G>A (p.Arg297Gln) | Missense | <0.5% | Reduced transcriptional repression activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking functional domains, impairing DNA binding and transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations reported in RBPJL.
Dominant Negative (DN)
Missense mutations such as p.Arg297Gln may act in a dominant-negative manner by interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
Protein Summary
The RBPJL protein is a 567-amino acid transcription factor containing a conserved CSL domain that mediates sequence-specific DNA binding. It functions primarily as a transcriptional repressor by recruiting corepressor complexes. Upon Notch receptor activation, the intracellular domain of Notch displaces corepressors and recruits coactivators, converting RBPJL into an activator. In the pancreas, RBPJL is essential for maintaining acinar cell identity and exocrine function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBPJL Knockout HEK293 Cell Line | EDJ-KQ445 | Human | 11317 | Details Get a Quote |
| RBPJL Knockout HeLa Cell Line | EDJ-KQ55628 | Human | 11317 | Details Get a Quote |
| RBPJL Knockout A-549 Cell Line | EDJ-KQ64127 | Human | 11317 | Details Get a Quote |
| RBPJL Knockout HCT 116 Cell Line | EDJ-KQ72572 | Human | 11317 | Details Get a Quote |
