HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POU3F1
POU class 3 homeobox 1
Chromosome 1 · 1p34.3
NCBI Gene: 5453Ensembl: ENSG00000185668.8HGNC: HGNC:9214UniProt: Q03052
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmsequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaserheumatoid arthritisdiabetic neuropathyhypothyroidism
✦AI Summary

POU3F1 is a POU-domain transcription factor that functions as a sequence-specific DNA-binding regulator of gene expression. It binds to octamer motifs in gene promoters and acts cooperatively with SOX family proteins (SOX4, SOX11, SOX12) to activate transcription, while also repressing myelin-specific genes 1. In the nervous system, POU3F1 serves as a molecular marker for glutamatergic cerebellar nuclear neurons and is essential for Schwann cell myelination and remyelination in peripheral nerves 23. POU3F1 expression is activated during promyelination, with only a subset of Schwann cells expressing POU3F1 becoming capable of myelin formation 3. Disease relevance includes psychiatric and neurological disorders: stress-associated epigenetic changes in POU3F1 are correlated with depression pathogenesis 4, and dysregulation of POU3F1 contributes to peripheral neuropathies such as Charcot-Marie-Tooth disease 1. In cancer, SOX12-mediated upregulation of POU3F1 promotes thyroid cancer cell proliferation and invasion 5, and POU3F1 is identified as a key transcription factor in CD4+ T cell dysfunction in systemic lupus erythematosus and as a predictor of liver cancer immunotherapy response 67. Clinically, POU3F1 represents a potential therapeutic target for multiple disease contexts.

Sources cited
1
Stress-associated epigenetic changes in POU3F1 are correlated with depression development
PMID: 31005627
2
POU3F1 is a key predicted transcription factor in the regulatory network of abnormal gene expression in CD4+ T cells from SLE patients
PMID: 36738683
3
POU3F1 is identified as a differentially expressed gene related to liver cancer immunotherapy response
PMID: 36860864
4
POU family homeobox transcription factors, including Oct-6 (POU3F1), are involved in brain development and have potential relevance to schizophrenia
PMID: 15006499
5
Oct6/Pou3f1 is a critical transcription factor in Schwann cell differentiation, myelination, and remyelination; mutations lead to peripheral neuropathies including Charcot-Marie-Tooth disease
PMID: 40452391
6
SOX12 regulates POU3F1 expression; SOX12-mediated upregulation of POU3F1 promotes thyroid cancer cell proliferation and invasion
PMID: 35619584
7
Pou3f1 is a novel molecular marker that delineates glutamatergic cerebellar nuclear neurons and their molecular diversity
PMID: 35935334
8
POU3F1 is expressed in Schwann cells and is activated during promyelination; only POU3F1-expressing Schwann cells become capable of myelination
PMID: 28512649
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
rheumatoid arthritisOpen Targets
0.31Weak
diabetic neuropathyOpen Targets
0.29Weak
hypothyroidismOpen Targets
0.28Weak
smoking initiationOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.23Weak
shortness of breathOpen Targets
0.19Weak
Chest painOpen Targets
0.18Weak
Abnormality of the gastrointestinal tractOpen Targets
0.18Weak
myxedemaOpen Targets
0.18Weak
device complicationOpen Targets
0.18Weak
insomniaOpen Targets
0.16Weak
duodenal ulcerOpen Targets
0.16Weak
HepatomegalyOpen Targets
0.15Weak
ocular hypotensionOpen Targets
0.15Weak
asthmaOpen Targets
0.15Weak
migraine disorderOpen Targets
0.15Weak
central nervous system cancerOpen Targets
0.14Weak
skin diseaseOpen Targets
0.14Weak
breast benign neoplasmOpen Targets
0.13Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SOX10Protein interaction99%EGR2Protein interaction88%ADGRG6Protein interaction82%POU3F2Protein interaction78%CCDC6Protein interaction73%MATCAP1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
8%
Liver
3%
Lung
2%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
POU3F1SOX10EGR2ADGRG6POU3F2CCDC6MATCAP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q03052
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.24Tolerant
Observed/Expected LoF0.44 [0.22–1.01]
RankingsWhere POU3F1 stands among ~20K protein-coding genes
  • #12,648of 20,598
    Most Researched27
  • #9,920of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPOU3F1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stress, epigenetics and depression: A systematic review.
PMID: 31005627
Neurosci Biobehav Rev · 2019
1.00
2
Integrated analysis of ATAC-seq and RNA-seq reveals the transcriptional regulation network in SLE.
PMID: 36738683
Int Immunopharmacol · 2023
0.90
3
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
PMID: 36860864
Front Immunol · 2023
0.80
4
Oct-6 transcription factor.
PMID: 15006499
Int Rev Neurobiol · 2004
0.70
5
Transcription Factors and Coregulators in Schwann Cell Differentiation, Myelination, and Remyelination: Implications for Peripheral Neuropathy.
PMID: 40452391
J Neurosci Res · 2025
0.60