POU3F1 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of gene expression; and positive regulation of transcription, DNA-templated. Predicted to act upstream of or within keratinocyte differentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | POU3F1 |
| Official Name | POU class 3 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9214] |
| Ensembl ID | ENSG00000185668 |
| Bio databases IDs | |
| Aliases | POU class 3 homeobox 1 |
| Synonyms | OCT6, OCT60, OTF6, POU class 3 homeobox 1, POU domain, class 3, transcription factor 1, SCIP, Test1, Testes-1, Tst-1 |
| 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 POU3F1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- DNA binding domain
- nucleic acid binding
- transcription activation domain
- linker domain
- sequence-specific DNA binding
- DNA binding
- Pou domain - N-terminal to homeobox domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- POU specific domain
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- adenoma formation
- glioma formation
- hypomyelination
- thyroid cancer
- monoclonal gammopathy of undertermined significance
- Crohn disease
- seizures
- adenoma
role in cell
- cell death
- differentiation
- hypertrophy
- quantity
- myelination
- development
- loss
- ensheathment
- regeneration
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
- perinuclear region
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU3F1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte differentiation
- myelination in peripheral nervous system
- forebrain development
- positive regulation of transcription, DNA-dependent
- positive regulation of gene expression
- axon ensheathment
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
- nucleoplasm
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
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity