FOXN1 Gene Summary [Human]
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FOXN1 |
| Official Name | forkhead box N1 [Source:HGNC Symbol;Acc:HGNC:12765] |
| Ensembl ID | ENSG00000109101 |
| Bio databases IDs | |
| Aliases | forkhead box N1 |
| Synonyms | D11Bhm185e, Fkh19, FKHL20, forkhead box N1, HFH-11, nu, nude, Rnu, RONU, TIDAND, TLIND, WHN |
| 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 FOXN1 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
- transcription regulator
- FH_FOX
- protein binding
- sequence-specific DNA binding
- Forkhead domain
- FORKHEAD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- common variable immunodeficiency with predominant immunoregulatory T-cell disorders
- COVID-19
- autosomal dominant infantile T-cell lymphopenia with or without nail dystrophy
- autosomal dominant infantile T-cell lymphopenia with nail dystrophy
- congenital alopecia
- immunodeficiency
- autism
- alopecia
- T-cell immunodeficiency with thymic aplasia
- severe combined immunodeficiency
role in cell
- expression in
- differentiation
- transactivation in
- expansion
- quantity
- decline
- production
- disruption
- homeostasis
- hematopoiesis
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
- cell cortex
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epidermis development
- T cell lineage commitment
- blood vessel morphogenesis
- defense response
- positive regulation of transcription from RNA polymerase II promoter
- T cell homeostasis
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- keratinocyte differentiation
- hair follicle development
- positive regulation of epithelial cell differentiation
- nail development
- positive regulation of hair follicle development
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
- 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