POU2F1: POU Class 2 Homeobox 1
Transcriptional regulator involved in immune response, development, and cancer
Gene Information Card
| Symbol | POU2F1 |
|---|---|
| Full Name | POU class 2 homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 5451 ncbi.nlm.nih.gov/gene/5451 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | P14859 |
| OMIM ID | 164175 |
| HGNC ID | 9213 |
| Aliases | OCT1, OTF1, NF-A1, Oct-1A, Oct-1B |
Description
POU2F1 (POU class 2 homeobox 1) encodes a transcription factor belonging to the POU domain family. The protein contains a POU-specific domain and a homeodomain, enabling sequence-specific DNA binding. It regulates expression of target genes involved in immune response, cell cycle, and development. POU2F1 is ubiquitously expressed and can act as both an activator and repressor of transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered POU2F1 expression correlates with poor prognosis; may regulate oncogenic pathways | PMID: 25691880 |
| Colorectal cancer | POU2F1 overexpression promotes cell proliferation and invasion | PMID: 29367600 |
| Lung cancer | POU2F1 upregulation associated with tumor progression and metastasis | PMID: 31073040 |
| Hodgkin lymphoma | POU2F1 contributes to aberrant B-cell transcription factor network | PMID: 22955920 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Testis | 15.2 | High |
| Spleen | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| A549 | 7.2 | Lung cancer cell line |
| HepG2 | 6.5 | Liver cancer cell line |
| MCF7 | 11.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000G>A (p.Gly334Arg) | Missense | <0.01% | Altered DNA-binding affinity |
| c.1243C>T (p.Arg415Trp) | Missense | <0.01% | Reduced transcriptional activity |
| c.1567_1568insA (p.Glu523Glufs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the POU domain or homeodomain lead to loss of DNA binding and transcriptional activity.
Gain of Function (GOF)
Not well documented; some missense variants may enhance transactivation but evidence is limited.
Dominant Negative (DN)
Not reported for POU2F1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcriptional regulation by POU2F1 (Reactome: R-HSA-9616222)
• Gene expression (Reactome: R-HSA-74160)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
POU2F1 (OCT1) is a 743-amino-acid transcription factor with a bipartite DNA-binding domain (POU-specific domain and homeodomain). It recognizes the octamer motif (ATGCAAAT) in promoter and enhancer regions. The protein is ubiquitously expressed and regulates genes involved in immune function, cell cycle, and development. Post-translational modifications include phosphorylation and acetylation, modulating its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU2F1 Knockout HEK293 Cell Line | EDJ-KQ5506 | Human | 5451 | Details Get a Quote |
| POU2F1 Knockout A-549 Cell Line | EDJ-KQ28751 | Human | 5451 | Details Get a Quote |
| POU2F1 Knockout HCT 116 Cell Line | EDJ-KQ28752 | Human | 5451 | Details Get a Quote |
| POU2F1 Knockout HeLa Cell Line | EDJ-KQ28753 | Human | 5451 | Details Get a Quote |
