POU3F1
POU class 3 homeobox 1 transcription factor
Gene Information Card
| Symbol | POU3F1 |
|---|---|
| Full Name | POU class 3 homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 5453 ncbi.nlm.nih.gov/gene/5453 |
| Ensembl ID | ENSG00000185499 |
| UniProt ID | Q03052 |
| OMIM ID | 602479 |
| HGNC ID | 9214 |
| Aliases | OCT6, OTF6, SCIP, Tst-1 |
Description
POU3F1 (POU class 3 homeobox 1) encodes a transcription factor belonging to the POU domain family. It is essential for neural development, particularly in the differentiation of oligodendrocytes and Schwann cells. The protein binds to octamer DNA sequences and regulates genes involved in myelination and neurogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peripheral neuropathy | Dysregulation of myelination genes | PMID: 10615106 |
| Schwannoma | Aberrant POU3F1 expression in tumor cells | PMID: 10498698 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal lineage |
| U-87 MG | 9.8 | Glioblastoma |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | Missense | <0.01% | Unknown functional effect |
| c.250G>A | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oligodendrocyte specification and differentiation (Reactome: R-HSA-9617324)
• Myelination (Reactome: R-HSA-9617324)
Protein Summary
POU3F1 is a 451-amino acid transcription factor with a POU-specific domain and a POU homeodomain. It binds to the octamer motif (ATGCAAAT) and regulates genes critical for myelination and neural stem cell maintenance. Expressed predominantly in the developing and adult nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU3F1 Knockout HEK293 Cell Line | EDJ-KQ50527 | Human | 5453 | Details Get a Quote |
| POU3F1 Knockout HeLa Cell Line | EDJ-KQ54179 | Human | 5453 | Details Get a Quote |
| POU3F1 Knockout A-549 Cell Line | EDJ-KQ62674 | Human | 5453 | Details Get a Quote |
| POU3F1 Knockout HCT 116 Cell Line | EDJ-KQ71142 | Human | 5453 | Details Get a Quote |
