PMEPA1: Prostate Transmembrane Protein, Androgen Induced 1
A key regulator of TGF-β signaling and androgen receptor activity, implicated in prostate cancer and other malignancies.
Gene Information Card
| Symbol | PMEPA1 |
|---|---|
| Full Name | Prostate Transmembrane Protein, Androgen Induced 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.31 |
| NCBI Gene ID | 56937 ncbi.nlm.nih.gov/gene/56937 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q969W9 |
| OMIM ID | 606564 |
| HGNC ID | 14107 |
| Aliases | TMEPAI, STAG1, C20orf187 |
Description
PMEPA1 (Prostate Transmembrane Protein, Androgen Induced 1) encodes a transmembrane protein that is induced by androgens and acts as a negative regulator of TGF-β signaling by interacting with SMAD proteins. It is involved in cell proliferation, differentiation, and apoptosis, and its dysregulation is associated with prostate cancer and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of PMEPA1 promotes androgen receptor signaling and inhibits TGF-β-mediated growth suppression, contributing to tumor progression. | PMID: 15601830; COSMIC |
| Breast cancer | PMEPA1 is upregulated in breast cancer and may modulate TGF-β signaling, affecting metastasis. | PMID: 21746837; NCBI Gene |
| Colorectal cancer | Altered PMEPA1 expression is linked to TGF-β pathway dysregulation in colorectal tumors. | PMID: 23542377; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Colon | 6.1 | Low |
| Lung | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 15.2 | Androgen-responsive cell line |
| MCF7 (breast cancer) | 9.8 | Estrogen receptor-positive |
| HT-29 (colorectal cancer) | 7.4 | TGF-β responsive |
| A549 (lung cancer) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; effect unknown |
| c.235C>T (p.Arg79Trp) | Missense | <0.1% | Reported in COSMIC; functional impact unclear |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Found in prostate cancer samples |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PMEPA1 are rare; some missense variants may impair TGF-β inhibition.
Gain of Function (GOF)
Gain-of-function is not well characterized; overexpression is more common in cancer.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • transforming growth factor beta receptor signaling pathway (GO:0007179) |
| • integral component of membrane (GO:0016021) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
| • apoptotic process (GO:0006915) |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Prostate cancer (KEGG: hsa05215)
• Signaling by TGF-beta family members (Reactome: R-HSA-170834)
Protein Summary
PMEPA1 is a 252-amino acid transmembrane protein with an N-terminal extracellular domain, a single transmembrane helix, and a cytoplasmic tail. It is induced by androgens and interacts with SMAD2/3 to negatively regulate TGF-β signaling. The protein is localized to the plasma membrane and endosomes, and its expression is elevated in several cancers, particularly prostate cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMEPA1 Knockout HEK293 Cell Line | EDJ-KQ2216 | Human | 56937 | Details Get a Quote |
| PMEPA1 Knockout A-549 Cell Line | EDJ-KQ22478 | Human | 56937 | Details Get a Quote |
| PMEPA1 Knockout HCT 116 Cell Line | EDJ-KQ22479 | Human | 56937 | Details Get a Quote |
| PMEPA1 Knockout HeLa Cell Line | EDJ-KQ22480 | Human | 56937 | Details Get a Quote |
