POU5F1 Gene Summary [Human]
This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
Details
| Type | Protein Coding |
| Official Symbol | POU5F1 |
| Official Name | POU class 5 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9221] |
| Ensembl ID | ENSG00000204531 |
| Bio databases IDs | |
| Aliases | POU class 5 homeobox 1 |
| Synonyms | NF-A3, OCT3, OCT3/4, OCT4, OTF-3, Otf3g, Otf3-rs7, OTF4, POU class 5 homeobox 1, POU domain, class 5, transcription factor 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 POU5F1 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
- ubiquitin protein ligase binding
- histone binding
- transcription regulator
- cytokine binding
- nucleic acid binding
- nuclear localization sequence
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA 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
- ligand-dependent nuclear receptor
- POU specific domain
- tail domain
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the POU5F1 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
- colorectal cancer
- lung adenocarcinoma
- neoplasia
- toxic epidermal necrolysis
- insulin-dependent diabetes mellitus
- metastasis
- epithelial cancer
- bladder neoplasm
- gastric cancer
- serous ovarian adenoma
role in cell
- phosphorylation in
- expression in
- cell viability
- production in
- apoptosis
- serine phosphorylation in
- proliferation
- colony formation
- invasion by
- signaling 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
- Mitochondria
- cytosol
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU5F1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- endodermal cell fate specification
- blastocyst development
- regulation of gene expression
- response to wounding
- somatic stem cell maintenance
- regulation of transcription, DNA-dependent
- regulation of asymmetric cell division
- 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
- cytoplasm
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- RNA binding
- protein binding
- ubiquitin protein ligase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity