Gene
rbpjb
- ID
- ZDB-GENE-070319-1
- Name
- recombination signal binding protein for immunoglobulin kappa J region b
- Symbol
- rbpjb Nomenclature History
- Previous Names
-
- Su(H)2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II repressing transcription factor binding activity and sequence-specific DNA binding activity. Involved in several processes, including animal organ development; blood vessel development; and somitogenesis. Predicted to localize to MAML1-RBP-Jkappa- ICN1 complex; nucleus; and transcription factor complex. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Is expressed in eye and head. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Echeverri et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Adams-Oliver syndrome | Alliance | Adams-Oliver syndrome 3 | 614814 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR015350 | Beta-trefoil DNA-binding domain |
| Domain | IPR015351 | RBP-J/Cbf11/Cbf12, DNA binding |
| Domain | IPR038007 | RBP-Jkappa, IPT domain |
| Family | IPR040159 | Suppressor of hairless-like |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR036358 | Beta-trefoil domain superfamily |
| Homologous_superfamily | IPR037095 | RBP-J/Cbf11, DNA binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Beta-trefoil DNA-binding domain | Beta-trefoil domain superfamily | Immunoglobulin E-set | Immunoglobulin-like fold | p53-like transcription factor, DNA-binding domain superfamily | RBP-J/Cbf11/Cbf12, DNA binding | RBP-J/Cbf11, DNA binding domain superfamily | RBP-Jkappa, IPT domain | Suppressor of hairless-like |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A4FTT4
|
491 |
Interactions and Pathways
No data available
Plasmids
No data available