Gene
rbpja
- ID
- ZDB-GENE-031117-1
- Name
- recombination signal binding protein for immunoglobulin kappa J region a
- Symbol
- rbpja Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including circulatory system development; kidney development; and regionalization. Predicted to be part of MAML1-RBP-Jkappa- ICN1 complex. Is expressed in head; midbrain; and otic vesicle. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la013570Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la013571Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-rbpja | Capon et al., 2017 | |
| CRISPR2-rbpja | Sun et al., 2019 | |
| MO1-rbpja | N/A | (5) |
| MO3-rbpja | N/A | (2) |
| MO4-rbpja,rbpjb | N/A | (33) |
| MO5-rbpja,rbpjb | N/A | (4) |
| MO6-rbpja | N/A | Sharma et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Adams-Oliver syndrome | Alliance | Adams-Oliver syndrome 3 | 614814 |
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Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(HSE:GFP,dnrbpja-MYC) |
|
| 1 | (4) | |
| Tg(hsp70l:rbpja-2A-GFP,cryaa:mCherry) |
| Zebrafish Nomenclature Committee | |||
| Tg(hsp70l:rbpja-FLAG-2A-GFP,cryaa:mCherry) |
| 1 | (2) | ||
| Tg(mitfa:TETA-GBD,TETRE:NLS-Venus-2A-dnrbpja) |
| 1 | Eom et al., 2015 | ||
| Tg(QUAS:NLS-Venus-2A-dnrbpja) |
| 1 | (2) |
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