RFX1 Gene Summary [Human]
This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | RFX1 |
| Official Name | regulatory factor X1 [Source:HGNC Symbol;Acc:HGNC:9982] |
| Ensembl ID | ENSG00000132005 |
| Bio databases IDs | |
| Aliases | regulatory factor X1, trans-acting regulatory factor 1, enhancer factor C, MHC class II regulatory factor RFX |
| Synonyms | EFC, regulatory factor X1, regulatory factor X, 1 (influences HLA class II expression), RFX |
| 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 RFX1 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 factor activity, sequence-specific DNA binding
- RFX DNA-binding domain
- transcription regulator
- double-stranded DNA binding
- RFX1 transcription activation region
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast adenocarcinoma
- Barrett syndrome
- esophageal adenocarcinoma
- esophageal carcinoma formation
role in cell
- expression in
- production in
- phosphorylation in
- proliferation
- DNA methylation in
- degradation in
- transcription in
- M2 polarization
- M1 polarization
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
- intracellular membrane-bounded organelle
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- immune response
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity