PRRX1 Gene - Paired Related Homeobox 1
Key regulator of mesenchymal development and cancer progression
Gene Information Card
| Symbol | PRRX1 |
|---|---|
| Full Name | Paired related homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 5396 ncbi.nlm.nih.gov/gene/5396 |
| Ensembl ID | ENSG00000116132 |
| UniProt ID | P54821 |
| OMIM ID | 167420 |
| HGNC ID | 9142 |
| Aliases | PRX1, PHOX1, PMX1, PRX-1 |
Description
PRRX1 (Paired related homeobox 1) encodes a member of the paired family of homeodomain transcription factors. The protein acts as a transcriptional regulator involved in mesenchymal cell differentiation, limb bud development, and craniofacial morphogenesis. PRRX1 is also implicated in epithelial-mesenchymal transition (EMT) and cancer metastasis, where its expression correlates with poor prognosis in various carcinomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aggressive fibromatosis (desmoid tumor) | PRRX1 rearrangements (e.g., COL1A1-PRRX1 fusion) drive aberrant transcription | OMIM #135290 |
| Craniofacial abnormalities (e.g., mandibular hypoplasia) | Loss-of-function mutations impair mesenchymal development | OMIM #167420 |
| Breast cancer metastasis | PRRX1 promotes EMT and stemness, enhancing metastatic potential | PubMed studies |
| Colorectal cancer | PRRX1 overexpression correlates with invasion and poor survival | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Adipose tissue | 12.8 | Medium |
| Skin | 10.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| A549 (lung cancer) | 12.1 | Moderate expression |
| HCT116 (colorectal cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| COL1A1-PRRX1 fusion | Gene fusion | Rare | Oncogenic activation in desmoid tumors |
| c.500C>T (p.Pro167Leu) | Missense | Unknown | Potential loss of DNA binding |
| c.1A>G (p.Met1?) | Start loss | Unknown | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense or truncating mutations in the homeodomain reduce DNA binding and transcriptional activity, impairing mesenchymal development.
Gain of Function (GOF)
Gene fusions (e.g., COL1A1-PRRX1) produce chimeric proteins with constitutive transcriptional activity, driving tumorigenesis.
Dominant Negative (DN)
Not well documented for PRRX1; most pathogenic variants are loss-of-function or gain-of-function fusions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-mesenchymal transition (EMT)
• TGF-beta signaling pathway
• Wnt signaling pathway
• Mesenchymal cell differentiation
Protein Summary
The PRRX1 protein is a 245-amino acid homeodomain transcription factor that binds DNA as a monomer or heterodimer. It regulates target genes involved in mesenchymal cell fate, extracellular matrix remodeling, and cell migration. PRRX1 is highly expressed in mesenchymal tissues and is a key inducer of EMT, contributing to cancer invasion and metastasis. Post-translational modifications such as phosphorylation modulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRRX1 Knockout HEK293 Cell Line | EDJ-KQ3925 | Human | 5396 | Details Get a Quote |
| PRRX1 Knockout HeLa Cell Line | EDJ-KQ26163 | Human | 5396 | Details Get a Quote |
| PRRX1 Knockout A-549 Cell Line | EDJ-KQ62661 | Human | 5396 | Details Get a Quote |
| PRRX1 Knockout HCT 116 Cell Line | EDJ-KQ71128 | Human | 5396 | Details Get a Quote |
