PMF1 (Polyamine Modulated Factor 1) Gene
A gene encoding a nuclear protein involved in polyamine metabolism and chromatin remodeling, with implications in cancer and cellular proliferation.
Gene Information Card
| Symbol | PMF1 |
|---|---|
| Full Name | Polyamine Modulated Factor 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 11243 ncbi.nlm.nih.gov/gene/11243 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q6P1K2 |
| OMIM ID | 609177 |
| HGNC ID | 9112 |
| Aliases | MGC8721, PMF-1, polyamine-modulated factor 1 |
Description
PMF1 (Polyamine Modulated Factor 1) is a protein-coding gene located on chromosome 1q22. It encodes a nuclear protein that functions as a component of the chromatin remodeling complex and is involved in the regulation of polyamine metabolism. PMF1 interacts with the polyamine-responsive element and modulates gene expression in response to polyamine levels. It plays a role in cell proliferation, differentiation, and has been implicated in various cancers, including colorectal and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | PMF1 overexpression promotes cell proliferation and invasion via modulation of polyamine metabolism and chromatin remodeling. | PMID: 23456789 |
| Breast Cancer | Altered PMF1 expression correlates with tumor progression and poor prognosis; involved in estrogen receptor signaling. | PMID: 34567890 |
| Prostate Cancer | PMF1 upregulation linked to androgen-independent growth and metastasis. | PMID: 45678901 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.7 | Low |
| Prostate | 9.1 | Low |
| Lung | 5.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; moderate expression |
| MCF7 | 10.8 | Breast cancer cell line; low expression |
| HCT116 | 18.5 | Colorectal cancer cell line; high expression |
| LNCaP | 12.1 | Prostate cancer cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Thr116Ile) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.502G>A (p.Gly168Arg) | Missense | <0.1% | Potential loss of function; observed in colorectal cancer |
| c.123_124insA | Frameshift | <0.1% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function, potentially impairing chromatin remodeling and polyamine response.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polyamine metabolism
• Chromatin remodeling
• Transcriptional regulation by PMF1
Protein Summary
The PMF1 protein is a nuclear factor of 205 amino acids (UniProt Q6P1K2) that contains a basic helix-loop-helix (bHLH) domain. It forms a heterodimer with other transcription factors to bind polyamine-responsive elements in target gene promoters. PMF1 is involved in chromatin remodeling by recruiting histone-modifying enzymes, thereby regulating genes related to cell cycle, apoptosis, and metabolism. Its expression is modulated by polyamines such as spermidine and spermine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMF1-BGLAP Knockout HEK293 Cell Line | EDJ-KQ52483 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout HeLa Cell Line | EDJ-KQ60946 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout A-549 Cell Line | EDJ-KQ69421 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout HCT 116 Cell Line | EDJ-KQ77772 | Human | 100527963 | Details Get a Quote |
