POU5F1 (Oct4) Gene - Key Regulator of Pluripotency and Stem Cell Identity
Comprehensive biomedical resource on POU5F1: genomic data, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | POU5F1 |
|---|---|
| Full Name | POU class 5 homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 5460 ncbi.nlm.nih.gov/gene/5460 |
| Ensembl ID | ENSG00000204531 |
| UniProt ID | Q01860 |
| OMIM ID | 164177 |
| HGNC ID | 9221 |
| Aliases | Oct3, Oct4, OTF3, OTF4 |
Description
POU5F1 (Oct4) is a homeobox transcription factor essential for maintaining pluripotency in embryonic stem cells and early embryonic development. It regulates key target genes involved in self-renewal and differentiation. Aberrant expression is associated with germ cell tumors and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Germ cell tumors (e.g., seminoma, embryonal carcinoma) | Overexpression of POU5F1 drives pluripotency and tumorigenesis in germ cells | ClinVar, COSMIC, OMIM |
| Testicular germ cell tumor | Somatic mutations and copy number gains in POU5F1 contribute to oncogenesis | COSMIC, NCBI |
| Embryonal carcinoma | High POU5F1 expression is a diagnostic marker and maintains undifferentiated state | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Placenta | 0.1 | Low |
| Embryonic stem cells (in vitro) | High | Very high |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | High | Pluripotent stem cell line |
| H9 (embryonic stem cell) | High | Undifferentiated hESC |
| HeLa | Low | Cervical cancer line, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.950G>A (p.Arg317Gln) | missense | <0.01% | Altered DNA-binding affinity |
| c.1063C>T (p.Arg355Trp) | missense | <0.01% | Reduced transactivation activity |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the POU domain or start codon reduce DNA binding and transactivation, impairing pluripotency maintenance.
Gain of Function (GOF)
Amplification or overexpression in germ cell tumors enhances pluripotency gene activation, promoting tumorigenesis.
Dominant Negative (DN)
Truncated or misfolded POU5F1 variants can interfere with wild-type function, though rare.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Embryonic stem cell pluripotency (KEGG: hsa04550)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• Oct4 transcriptional network (Reactome: R-HSA-5250941)
Protein Summary
POU5F1 (Oct4) is a 360-amino acid transcription factor containing a POU-specific domain and a POU homeodomain. It forms heterodimers with SOX2 to activate pluripotency genes (e.g., NANOG, FGF4). Post-translational modifications include phosphorylation and ubiquitination, regulating stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU5F1B Knockout HEK293 Cell Line | EDJ-KQ5508 | Human | 5462 | Details Get a Quote |
| POU5F1 Knockout HEK293 Cell Line | EDJ-KQ50529 | Human | 5460 | Details Get a Quote |
| POU5F1 Knockout HeLa Cell Line | EDJ-KQ54185 | Human | 5460 | Details Get a Quote |
| POU5F1B Knockout HeLa Cell Line | EDJ-KQ54186 | Human | 5462 | Details Get a Quote |
| POU5F1 Knockout A-549 Cell Line | EDJ-KQ62679 | Human | 5460 | Details Get a Quote |
| POU5F1B Knockout A-549 Cell Line | EDJ-KQ62680 | Human | 5462 | Details Get a Quote |
| POU5F1 Knockout HCT 116 Cell Line | EDJ-KQ71148 | Human | 5460 | Details Get a Quote |
| POU5F1B Knockout HCT 116 Cell Line | EDJ-KQ71149 | Human | 5462 | Details Get a Quote |
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