RFXAP Gene Summary [Human]
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RFXAP |
| Official Name | regulatory factor X associated protein [Source:HGNC Symbol;Acc:HGNC:9988] |
| Ensembl ID | ENSG00000133111 |
| Bio databases IDs | |
| Aliases | regulatory factor X associated protein |
| Synonyms | 5730495K23Rik, MHC2D4, regulatory factor X-associated protein, Rfxapl1 |
| 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 RFXAP 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
- double-stranded DNA binding
- nucleic acid binding
- protein binding
- glutamine-rich domain
- sequence-specific DNA binding
- basic domain
- acidic domain
- DNA binding
Pathways
Biological processes and signaling networks where the RFXAP 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
- skin cancer
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- bare lymphocyte syndrome type II complementation group A
- MHC class II deficiency 4
- cutaneous T-cell lymphoma
- MHC class II deficiency
regulated by
- IFNG
- nicotine
- aldesleukin
role in cell
- expression in
- transactivation 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
- nuclear fraction
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFXAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of MHC class II biosynthetic process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription