FOXI1 Gene Summary [Human]
This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | FOXI1 |
| Official Name | forkhead box I1 [Source:HGNC Symbol;Acc:HGNC:3815] |
| Ensembl ID | ENSG00000168269 |
| Bio databases IDs | |
| Aliases | forkhead box I1 |
| Synonyms | 5830401E05Rik, FKH10, FKHL10, forkhead box I1, FREAC-6, HFH-3 |
| 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 FOXI1 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
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- 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
- acute myeloid leukemia
- hearing loss
- autosomal recessive deafness type 4
- acidosis
- absent pinna reflex
- Pendred syndrome
- hyperactive behavior
- torticollis
- renal tubular acidosis
role in cell
- apoptosis
- quantity
- morphology
- necroptosis
- abnormal morphology
- function
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
- intracellular membrane-bounded organelle
- vesicles
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryo development ending in birth or egg hatching
- inner ear morphogenesis
- cell differentiation
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- nucleolus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- DNA binding, bending
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity