Details for: POU3F1

Gene ID: 5453

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: POU3F1

Ensembl ID: ENSG00000185668

Description: POU class 3 homeobox 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • progenitor cell CL0011026
    CSI 8.14
    rCSI 17.32%
    PRS 90.98
  • melanocyte CL0000148
    CSI 7.25
    rCSI 5.37%
    PRS 93.45
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 6.51
    rCSI 7.89%
    PRS 79.47
  • innate lymphoid cell CL0001065
    CSI 3.78
    rCSI 7.8%
    PRS 89.88
  • pancreatic D cell CL0000173
    CSI 3.73
    rCSI 3.67%
    PRS 96.13
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 3.7
    rCSI 4.75%
    PRS 92.92
  • respiratory suprabasal cell CL4033048
    CSI 3.63
    rCSI 4.65%
    PRS 96.15
  • bronchus fibroblast of lung CL2000093
    CSI 3.62
    rCSI 2.94%
    PRS 95.4
  • epithelial cell CL0000066
    CSI 3.61
    rCSI 5.55%
    PRS 86.01
  • suprabasal keratinocyte CL4033013
    CSI 2.94
    rCSI 4.8%
    PRS 72.23
  • cytotoxic T cell CL0000910
    CSI 2.72
    rCSI 15.57%
    PRS 92.72
  • keratinocyte CL0000312
    CSI 2.61
    rCSI 2.19%
    PRS 94.88
  • tracheobronchial serous cell CL0019001
    CSI 2.43
    rCSI 10.5%
    PRS 96.49
  • radial glial cell CL0000681
    CSI 2.24
    rCSI 3.12%
    PRS 94.41
  • melanocyte of skin CL1000458
    CSI 2.08
    rCSI 2.83%
    PRS 72.04
  • respiratory basal cell CL0002633
    CSI 2.08
    rCSI 2.15%
    PRS 96.36
  • helper T cell CL0000912
    CSI 1.38
    rCSI 1.95%
    PRS 90.67
  • basal cell of epidermis CL0002187
    CSI 1.36
    rCSI 2.42%
    PRS 72.05
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.1
    rCSI 3.94%
    PRS 86.26
  • deuterosomal cell CL4033044
    CSI 0.87
    rCSI 2.93%
    PRS 90.68
  • vein endothelial cell of respiratory system CL4033008
    CSI 0.66
    rCSI 4.55%
    PRS 97.19

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [POU3F1](/details-gene/5453) (POU class 3 homeobox 1), also known as Oct-6, is a protein-coding gene located on chromosome 1p34.3. It encodes a transcription factor belonging to the POU domain family, which is critical for regulating gene expression during development. Functionally, [POU3F1](/details-gene/5453) is a key player in [Nervous system development](https://reactome.org/content/detail/R-HSA-9675108), particularly in processes like [axon ensheathment](/details-go/GO:0008366), myelination, and [forebrain development](/details-go/GO:0030900). Expression data reveals its highest significance in [progenitor cell](/details-cell/CL0011026), [melanocyte](/details-cell/CL0000148), and various neural and epithelial cell types, underscoring its role in cellular differentiation and lineage specification. It has a clinical association with certain developmental phenotypes ([OMIM:[602479](https://omim.org/entry/602479)]). ## Cellular Roles and Expression Landscape The expression profile of [POU3F1](/details-gene/5453) highlights its broad yet specific roles in development and tissue maintenance. - **Overall**, the gene shows the highest significance in undifferentiated or plastic cell types, including [progenitor cell](/details-cell/CL0011026) (CSI: 8.14) and [neuroblast (sensu Vertebrata)](/details-cell/CL0000031) (CSI: 3.70), consistent with its fundamental role in developmental biology. - Its high significance in cells of the neural lineage, such as [neuroblast (sensu Vertebrata)](/details-cell/CL0000031) and [radial glial cell](/details-cell/CL0000681), aligns with its established function in nervous system development and myelination. - [POU3F1](/details-gene/5453) is also a key marker in epithelial contexts. It is significantly expressed in [keratinocyte](/details-cell/CL0000312) and [suprabasal keratinocyte](/details-cell/CL4033013), which is supported by research identifying it as a regulator of gene expression in stratified squamous epithelia ([Link](https://doi.org/10.1128/mcb.14.5.3263-3275.1994)). Its role extends to other epithelial cells, such as [respiratory suprabasal cell](/details-cell/CL4033048). - Notably, the gene is highly significant in [melanocyte](/details-cell/CL0000148) (CSI: 7.25) and [melanocyte of skin](/details-cell/CL1000458), suggesting a critical function in the development or maintenance of this cell type. - A surprising observation is its high significance in specific immune populations, namely [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) (CSI: 6.51) and [innate lymphoid cell](/details-cell/CL0001065) (CSI: 3.78), which may indicate an uncharacterized role in the differentiation or function of these lymphocytes. ## Pathways and Molecular Function The molecular function of [POU3F1](/details-gene/5453) is primarily as a [DNA-binding transcription factor activity, rna polymerase ii-specific](/details-go/GO:0000981). It operates within the [nucleus](/details-go/GO:0005634), where it binds to [chromatin](/details-go/GO:0000785) as part of a [transcription regulator complex](/details-go/GO:0005667) to modulate gene expression. Biologically, its activities are central to developmental processes. This is reflected in its annotation to broad pathways like [Developmental biology](https://reactome.org/content/detail/R-HSA-1266738) and [Gastrulation](https://reactome.org/content/detail/R-HSA-9758941). More specific roles include: - **Nervous System Development:** [POU3F1](/details-gene/5453) is integral to [Nervous system development](https://reactome.org/content/detail/R-HSA-9675108), including the [formation of the anterior neural plate](https://reactome.org/content/detail/R-HSA-9823739) and processes such as [myelination in peripheral nervous system](/details-go/GO:0022011). Its involvement in the [Egr2 and sox10-mediated initiation of schwann cell myelination](https://reactome.org/content/detail/R-HSA-9619665) pathway is consistent with its expression in glial progenitor cells. - **Epithelial Differentiation:** The gene's role in [Keratinocyte differentiation](/details-go/GO:0030216) aligns with its high CSI scores in [keratinocyte](/details-cell/CL0000312) populations and is supported by direct experimental evidence ([Link](https://doi.org/10.1128/mcb.14.5.3263-3275.1994)). ## Research Directions The widespread yet specific expression pattern of [POU3F1](/details-gene/5453) across multiple developmental lineages presents several avenues for future investigation. **Proposed Hypotheses:** 1. The high significance of [POU3F1](/details-gene/5453) in both [progenitor cell](/details-cell/CL0011026) and terminally differentiated cells like [melanocyte](/details-cell/CL0000148) suggests it functions as a bifunctional regulator: first, to guide lineage commitment during development, and second, to maintain the transcriptional identity of mature cells. 2. The unexpected high CSI score in [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) suggests that [POU3F1](/details-gene/5453) may be reactivated during lymphocyte differentiation to establish or maintain the transcriptional program associated with long-term immunological memory. **Key Experiment:** To test the first hypothesis regarding its role in lineage commitment and maintenance, a dual-approach experiment could be conducted. One could utilize CRISPR-Cas9 to knock out [POU3F1](/details-gene/5453) in human induced pluripotent stem cells (iPSCs) and subsequently direct them towards a melanocytic fate. Single-cell RNA sequencing and ATAC-seq at different time points would reveal if the gene is required for the proper establishment of the melanocyte lineage. In parallel, a conditional knockout in a mature mouse melanocyte model would determine its role in maintaining cellular identity and preventing dedifferentiation. **Therapeutic Potential:** As a nuclear transcription factor, [POU3F1](/details-gene/5453) is a challenging direct target for small-molecule inhibitors. However, its role in differentiation makes it a potential factor in diseases characterized by developmental defects or cellular plasticity, such as neurodevelopmental disorders and cancers like melanoma. Therapeutic strategies would likely focus on indirect modulation, for instance, by targeting its key downstream effectors or using nucleic acid-based therapies like antisense oligonucleotides to alter its expression levels in a disease-specific context. Given its role in maintaining cell states, modulating its activity, rather than simple inhibition, may be required to restore normal cellular function.

Genular Protein ID: 1750142413

Symbol: PO3F1_HUMAN

Name: POU domain, class 3, transcription factor 1

UniProtKB Accession Codes:

Q03052 Q5TAG2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 GO 16 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7909356

Title: Oct-6: a regulator of keratinocyte gene expression in stratified squamous epithelia.

PubMed ID: 7909356

DOI: 10.1128/mcb.14.5.3263-3275.1994

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 8451175

Title: The human Oct-6 POU transcription factor lacks the first 50 amino acids of its murine counterpart.

PubMed ID: 8451175

DOI: 10.1093/nar/21.4.1043

Sequence Information:

  • Length: 451
  • Mass: 45496
  • Checksum: 563217BD6A3D00CD
  • Sequence:
    • MATTAQYLPR GPGGGAGGTG PLMHPDAAAA AAAAAAAERL HAGAAYREVQ KLMHHEWLGA 
GAGHPVGLAH PQWLPTGGGG GGDWAGGPHL EHGKAGGGGT GRADDGGGGG GFHARLVHQG 
AAHAGAAWAQ GSTAHHLGPA MSPSPGASGG HQPQPLGLYA QAAYPGGGGG GLAGMLAAGG 
GGAGPGLHHA LHEDGHEAQL EPSPPPHLGA HGHAHGHAHA GGLHAAAAHL HPGAGGGGSS 
VGEHSDEDAP SSDDLEQFAK QFKQRRIKLG FTQADVGLAL GTLYGNVFSQ TTICRFEALQ 
LSFKNMCKLK PLLNKWLEET DSSSGSPTNL DKIAAQGRKR KKRTSIEVGV KGALESHFLK 
CPKPSAHEIT GLADSLQLEK EVVRVWFCNR RQKEKRMTPA AGAGHPPMDD VYAPGELGPG 
GGGASPPSAP PPPPPAALHH HHHHTLPGSV Q