RFXANK 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 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. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | RFXANK |
| Official Name | regulatory factor X associated ankyrin containing protein [Source:HGNC Symbol;Acc:HGNC:9987] |
| Ensembl ID | ENSG00000064490 |
| Bio databases IDs | |
| Aliases | regulatory factor X associated ankyrin containing protein, ankyrin repeat-containing regulatory factor X-associated protein, regulatory factor X subunit B, RFX-Bdelta4, DNA-binding protein RFXANK |
| Synonyms | ANKRA1, BLS, F14150 1, MHC2D2, regulatory factor X-associated ankyrin-containing protein, RFX-B, Tvl1 |
| 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 RFXANK 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
- Ankyrin repeats (many copies)
- nucleic acid binding
- Ankyrin repeats (3 copies)
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- Ankyrin repeat
- PEST domain
- ankyrin binding domain
- double-stranded DNA binding
- ankyrin repeats
Pathways
Biological processes and signaling networks where the RFXANK 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
- bare lymphocyte syndrome type II complementation group A
- MHC class II deficiency 2
- bare lymphocyte syndrome
- bare lymphocyte syndrome type II
- hereditary disorder
- multiple sclerosis
- MHC class II deficiency group B
- MHC class II deficiency 3
- MHC class II deficiency
role in cell
- apoptosis
- expression in
- maturation 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
- Cytoplasm
- cytoplasmic bridges
- cytosol
- nuclear foci
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFXANK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Ras protein signal transduction
- 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
- intercellular bridge
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone deacetylase 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