RFX6 Gene Summary [Human]
The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]
Details
| Type | Retained Intron |
| Official Symbol | RFX6 |
| Official Name | regulatory factor X6 [Source:HGNC Symbol;Acc:HGNC:21478] |
| Ensembl ID | ENSG00000185002 |
| Bio databases IDs | |
| Aliases | regulatory factor X6, DNA-binding protein RFX6 |
| Synonyms | 4930572O07Rik, dJ955L16.1, LOC100911315, MTCHRS, MTFS, regulatory factor X6, regulatory factor X, 6, RFXDC1 |
| 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 RFX6 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RFX DNA-binding domain
- double-stranded DNA binding
- nucleic acid binding
- enzyme
- protein binding
- sequence-specific 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
- neoplasia
- metastasis
- epithelial cancer
- cancer
- prostate cancer
- prostatic carcinoma
- Martinez-Frias syndrome
- Mitchell-Riley syndrome
- non-insulin-dependent diabetes mellitus
- organismal death
role in cell
- expression in
- proliferation
- migration
- differentiation
- invasion by
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 RFX6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of insulin secretion
- pancreatic E cell differentiation
- positive regulation of transcription, DNA-dependent
- glucose homeostasis
- type B pancreatic cell differentiation
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- positive regulation of transcription from RNA polymerase II promoter
- endocrine pancreas development
- pancreatic A cell differentiation
- pancreatic D cell differentiation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity