POU5F1B: POU Class 5 Homeobox 1B
A Retrogene of the Pluripotency Factor OCT4 with Potential Roles in Cancer and Spermatogenesis
Gene Information Card
| Symbol | POU5F1B |
|---|---|
| Full Name | POU Class 5 Homeobox 1B |
| Gene Type | Pseudogene (retrogene) |
| Chromosomal Location | 8q24.21 |
| NCBI Gene ID | 5462 ncbi.nlm.nih.gov/gene/5462 |
| Ensembl ID | ENSG00000204536 |
| UniProt ID | Q06416 |
| OMIM ID | 608979 |
| HGNC ID | 9229 |
| Aliases | OCT4-pg1, OCT4-pg4, OTF3C, OTF3-pg1 |
Description
POU5F1B is a processed pseudogene derived from the POU5F1 (OCT4) gene, located on chromosome 8q24.21. Unlike its parental gene, POU5F1B lacks introns and contains a premature stop codon, rendering it incapable of producing a full-length protein. However, it is transcribed in certain tissues and cancer cell lines, and its expression has been associated with spermatogenesis and various malignancies, including breast and ovarian cancers. The gene is also known as OCT4-pg1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of POU5F1B may contribute to tumorigenesis by modulating OCT4 signaling or acting as a competitive endogenous RNA (ceRNA). | COSMIC; literature |
| Ovarian Cancer | Elevated POU5F1B expression observed in ovarian cancer cell lines; potential role in cancer stem cell maintenance. | COSMIC; literature |
| Spermatogenic Failure | Expression in testis suggests involvement in germ cell development; dysregulation linked to infertility. | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Breast | 0.1 | Very Low |
| Ovary | 0.1 | Very Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.5 | Detectable by RT-PCR |
| SKOV3 (ovarian cancer) | 0.4 | Detectable by RT-PCR |
| NTERA2 (embryonal carcinoma) | 0.6 | Higher expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Non-coding; likely benign |
| c.123C>T | SNV | <0.01% | Non-coding; no functional impact predicted |
Mutation functional classification
Loss of Function (LOF)
Not applicable; POU5F1B is a pseudogene and does not encode a functional protein.
Gain of Function (GOF)
Not applicable; no evidence of gain-of-function mutations.
Dominant Negative (DN)
Not applicable; no protein product to exert dominant-negative effects.
View complete mutation data：
Protein Summary
POU5F1B is a processed pseudogene that does not produce a full-length protein. The predicted translation product is truncated and non-functional. Its biological role, if any, is likely mediated through RNA-level interactions, such as acting as a ceRNA or regulatory transcript.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU5F1B Knockout HEK293 Cell Line | EDJ-KQ5508 | Human | 5462 | Details Get a Quote |
| POU5F1B Knockout HeLa Cell Line | EDJ-KQ54186 | Human | 5462 | Details Get a Quote |
| POU5F1B Knockout A-549 Cell Line | EDJ-KQ62680 | Human | 5462 | Details Get a Quote |
| POU5F1B Knockout HCT 116 Cell Line | EDJ-KQ71149 | Human | 5462 | Details Get a Quote |
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