Rfxank Gene Summary [Mouse]
Enables histone deacetylase binding activity. Acts upstream of or within Ras protein signal transduction and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in central nervous system; genitourinary system; and retina. Human ortholog(s) of this gene implicated in severe combined immunodeficiency. Orthologous to human RFXANK (regulatory factor X associated ankyrin containing protein). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Rfxank |
| Official Name | regulatory factor X-associated ankyrin-containing protein [Source:MGI Symbol;Acc:MGI:1333865] |
| Ensembl ID | ENSMUSG00000036120 |
| Bio databases IDs | |
| Aliases | regulatory factor X-associated ankyrin-containing protein |
| Synonyms | ANKRA1, BLS, F14150 1, MHC2D2, regulatory factor X-associated ankyrin-containing protein, RFX-B, Tvl1 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
regulates
- CASP3
- HLA-A
- HLA-B
- DNA promoter
- DNA endogenous promoter
- MHC I heavy chain
- RNA polymerase II
- HLA-DRA
- synthetic promoter
- CAT reporter gene
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 mouse 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