POU4F1
POU class 4 homeobox 1 transcription factor
Gene Information Card
| Symbol | POU4F1 |
|---|---|
| Full Name | POU class 4 homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q31.1 |
| NCBI Gene ID | 5457 ncbi.nlm.nih.gov/gene/5457 |
| Ensembl ID | ENSG00000152192 |
| UniProt ID | Q01851 |
| OMIM ID | 601632 |
| HGNC ID | 9218 |
| Aliases | Brn3a, RDC-1, Oct-T1, BRN3A |
Description
POU4F1 encodes a POU-domain transcription factor (Brn3a) essential for the development and survival of specific neuronal populations, including sensory neurons and retinal ganglion cells. It regulates target genes involved in neuronal differentiation, axon guidance, and cell cycle exit.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal ganglion cell degeneration | Loss of POU4F1 leads to impaired retinal neuron survival and axon outgrowth | Animal models; OMIM 601632 |
| Hearing loss (sensorineural) | POU4F1 deficiency disrupts spiral ganglion neuron development | Mouse knockout studies; NCBI Gene |
| Neuroblastoma | Altered POU4F1 expression linked to tumor differentiation | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 11.2 | Medium |
| Retina | 8.5 | Medium |
| Spinal cord | 6.3 | Low |
| Testis | 1.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.8 | Neuronal lineage |
| HEK293 | 0.2 | Very low |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.01% | Loss of function; predicted NMD |
| c.602G>A (p.Arg201Gln) | Missense | <0.01% | Unknown; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported in POU4F1.
Dominant Negative (DN)
No dominant-negative mutations described for POU4F1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuronal development and differentiation (Reactome R-HSA-1266738)
• Retinal ganglion cell development (KEGG hsa04744)
Protein Summary
POU4F1 (Brn3a) is a 384-amino acid transcription factor containing a POU-specific domain and a POU homeodomain. It binds DNA as a monomer or heterodimer to regulate genes critical for neuronal fate specification, axon pathfinding, and survival. Expressed predominantly in the developing and adult nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU4F1 Knockout HEK293 Cell Line | EDJ-KQ3126 | Human | 5457 | Details Get a Quote |
| POU4F1 Knockout A-549 Cell Line | EDJ-KQ24489 | Human | 5457 | Details Get a Quote |
| POU4F1 Knockout HeLa Cell Line | EDJ-KQ54182 | Human | 5457 | Details Get a Quote |
| POU4F1 Knockout HCT 116 Cell Line | EDJ-KQ71145 | Human | 5457 | Details Get a Quote |
