RFX3 Gene Summary [Human]
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | RFX3 |
| Official Name | regulatory factor X3 [Source:HGNC Symbol;Acc:HGNC:9984] |
| Ensembl ID | ENSG00000080298 |
| Bio databases IDs | |
| Aliases | regulatory factor X3 |
| Synonyms | C230093O12RIK, MRFX3, regulatory factor X3, regulatory factor X, 3 (influences HLA class II expression) |
| 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 RFX3 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
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- 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
- COVID-19
- epithelial cancer
- prostate cancer
- schizophrenia
- rheumatoid arthritis
- dextrocardia
- complex neurodevelopmental disorder
- growth failure
- insomnia
- idiopathic scoliosis
role in cell
- expression in
- growth
- maturation
- assembly
- elongation
- abnormal morphology
- elongation in
- ciliogenesis 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cilium movement involved in determination of left/right asymmetry
- cilium morphogenesis
- transcription, DNA-dependent
- ciliary cell motility
- regulation of transcription, DNA-dependent
- cell maturation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- type B pancreatic cell maturation
- regulation of insulin secretion
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- positive regulation of type B pancreatic cell development
- endocrine pancreas development
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- extracellular region
- chromatin
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
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity