RBPJ Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RBPJ |
| Official Name | recombination signal binding protein for immunoglobulin kappa J region [Source:HGNC Symbol;Acc:HGNC:5724] |
| Ensembl ID | ENSG00000168214 |
| Bio databases IDs | |
| Aliases | recombination signal binding protein for immunoglobulin kappa J region, suppressor of hairless homolog (Drosophila) |
| Synonyms | AOS3, CBF-1, csl, IGKJRB, IGKJRB1, Igkrsbp, KBF2, RBP 2N, RBP-JK, RBP-J kappa, RBP-J κ, RBPSUH, Rbpsuh1, Recombination signal binding, recombination signal binding protein for immunoglobulin kappa J region, recombination signal binding protein for immunoglobulin κ J region, SUH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RBPJ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- IPT
- transcription factor binding
- chromatin binding
- Beta-trefoil DNA-binding domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- TIG domain
- LAG1, DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription repression domain
- binding protein
- double-stranded DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the RBPJ gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- experimental autoimmune encephalomyelitis
- neoplasia
- epithelial neoplasia
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- cancer
- hypertension
- liver cancer
- metastasis
- late-onset noninsulin-dependent diabetes mellitus
role in cell
- activation in
- migration
- activation
- expression in
- upregulation in
- apoptosis
- production in
- phosphorylation in
- proliferation
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- Cytoplasm
- nucleoplasm
- nucleoli
- nuclear speckles
- nuclear matrix
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBPJ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cardiac muscle cell proliferation
- Clara cell differentiation
- regulation of reproductive process
- arterial endothelial cell fate commitment
- aortic valve development
- auditory receptor cell fate commitment
- pulmonary valve development
- regulation of generation of precursor metabolites and energy
- epithelial cell proliferation
- inflammatory response to antigenic stimulus
- negative regulation of transcription, DNA-dependent
- humoral immune response
- dorsal aorta morphogenesis
- positive regulation of epithelial cell proliferation
- B cell differentiation
- positive regulation of canonical Wnt receptor signaling pathway
- positive regulation of transcription of Notch receptor target
- ventricular trabecula myocardium morphogenesis
- defense response to bacterium
- pituitary gland development
- cardiac left ventricle morphogenesis
- keratinocyte differentiation
- secondary heart field specification
- Notch signaling pathway
- epidermal cell fate specification
- labyrinthine layer blood vessel development
- somitogenesis
- negative regulation of stem cell proliferation
- positive regulation of gene expression
- epithelial to mesenchymal transition
- outflow tract morphogenesis
- sebaceous gland development
- epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- blood vessel endothelial cell fate specification
- negative regulation of cell differentiation
- angiogenesis
- myeloid dendritic cell differentiation
- stem cell proliferation
- somatic stem cell maintenance
- positive regulation of cell proliferation involved in heart morphogenesis
- regulation of cell adhesion involved in heart morphogenesis
- endocardium morphogenesis
- hair follicle maturation
- cardiac muscle cell myoblast differentiation
- ventricular septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- regulation of timing of cell differentiation
- positive regulation of BMP signaling pathway
- blood vessel remodeling
- blood vessel lumenization
- negative regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- transcriptional repressor complex
- MAML1-RBP-Jkappa- ICN1 complex
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity