RBPJL Gene Summary [Human]
This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | RBPJL |
| Official Name | recombination signal binding protein for immunoglobulin kappa J region like [Source:HGNC Symbol;Acc:HGNC:13761] |
| Ensembl ID | ENSG00000124232 |
| Bio databases IDs | |
| Aliases | recombination signal binding protein for immunoglobulin kappa J region like |
| Synonyms | RBP-J-like factor, RBP-L, RBPSUHL, recombination signal binding protein for immunoglobulin kappa J region-like, recombination signal binding protein for immunoglobulin κ J region-like, SUHL |
| 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 RBPJL 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
- nucleic acid binding
- IPT
- 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
- double-stranded DNA binding
- IPT/TIG domain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- late-onset noninsulin-dependent diabetes mellitus
- bipolar I disorder
- bipolar disorder
role in cell
- expression in
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBPJL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region 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