PROX1 Gene: Prospero Homeobox 1
Key regulator of lymphatic development, cell fate determination, and tumorigenesis
Gene Information Card
| Symbol | PROX1 |
|---|---|
| Full Name | Prospero homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 5629 ncbi.nlm.nih.gov/gene/5629 |
| Ensembl ID | ENSG00000117707 |
| UniProt ID | Q92786 |
| OMIM ID | 601546 |
| HGNC ID | 9459 |
| Aliases | PROX-1, prospero-related homeobox 1 |
Description
PROX1 (Prospero homeobox 1) encodes a homeobox transcription factor that plays a critical role in embryonic development, particularly in the specification of lymphatic endothelial cells, lens fiber cell differentiation, and neurogenesis. It regulates cell fate determination, proliferation, and migration. PROX1 is also implicated in tumorigenesis, acting as both a tumor suppressor and oncogene depending on the cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphedema | PROX1 haploinsufficiency disrupts lymphatic endothelial cell specification and sprouting | OMIM #601546; PMID: 12415255 |
| Colorectal cancer | PROX1 overexpression promotes lymphangiogenesis and metastasis via VEGF-C upregulation | PMID: 21746835; COSMIC |
| Hepatocellular carcinoma | PROX1 loss promotes epithelial-mesenchymal transition and invasion | PMID: 23912626 |
| Breast cancer | PROX1 expression correlates with lymphatic invasion and poor prognosis | PMID: 21947006 |
| Cholangiocarcinoma | PROX1 overexpression linked to tumor progression and lymph node metastasis | PMID: 25622911 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.5 | High |
| Spleen | 22.1 | High |
| Liver | 15.3 | Medium |
| Heart | 8.7 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Lymphatic endothelial cells (LECs) | 45.0 | High expression; key marker |
| HepG2 (liver cancer) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 8.1 | Low expression |
| HCT116 (colorectal cancer) | 18.7 | Elevated compared to normal colon |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.571C>T (p.Arg191*) | Nonsense | Rare | Loss of function; associated with lymphedema |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Unknown; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely pathogenic |
| Amplification | Copy number gain | Frequent in colorectal cancer | Gain of function; promotes lymphangiogenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start loss mutations (e.g., p.Arg191*, p.Met1?) lead to truncated or absent protein, causing lymphatic defects and lymphedema.
Gain of Function (GOF)
Gene amplification and overexpression in colorectal and breast cancer enhance PROX1 activity, driving lymphangiogenesis and metastasis.
Dominant Negative (DN)
No well-characterized dominant negative mutations reported for PROX1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003700 - DNA-binding transcription factor activity | • GO:0005634 - nucleus |
| • GO:0006357 - regulation of transcription by RNA polymerase II | • GO:0001945 - lymph vessel development |
| • GO:0007420 - brain development | • GO:0002088 - lens development in camera-type eye |
| • GO:0045944 - positive regulation of transcription by RNA polymerase II |
Pathways
• VEGF-C/VEGFR3 signaling in lymphangiogenesis
• Wnt/β-catenin signaling pathway
• Notch signaling pathway
• Epithelial-mesenchymal transition (EMT)
Protein Summary
PROX1 is a 737-amino acid homeobox transcription factor that localizes to the nucleus. It contains a prospero-type homeodomain and a C-terminal domain involved in transcriptional activation. PROX1 heterodimerizes with other transcription factors (e.g., COUP-TFII) to regulate target genes essential for lymphatic endothelial cell identity, cell cycle control, and differentiation. Its expression is tightly regulated during development and often dysregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROX1 Knockout HEK293 Cell Line | EDJ-KQ3353 | Human | 5629 | Details Get a Quote |
| PROX1 Knockout HeLa Cell Line | EDJ-KQ54225 | Human | 5629 | Details Get a Quote |
| PROX1 Knockout A-549 Cell Line | EDJ-KQ62719 | Human | 5629 | Details Get a Quote |
| PROX1 Knockout HCT 116 Cell Line | EDJ-KQ71191 | Human | 5629 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
