PLAC1: Placenta-Specific Protein 1
A cancer-testis antigen with roles in placental development and tumorigenesis
Gene Information Card
| Symbol | PLAC1 |
|---|---|
| Full Name | Placenta-specific protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 10761 ncbi.nlm.nih.gov/gene/10761 |
| Ensembl ID | ENSG00000170962 |
| UniProt ID | Q9HBJ0 |
| OMIM ID | 300326 |
| HGNC ID | 9044 |
| Aliases | PLAC1, placenta-specific 1 |
Description
PLAC1 (placenta-specific protein 1) is a protein-coding gene located on chromosome Xq26.3. It encodes a 212-amino acid protein that is predominantly expressed in the placenta, specifically in trophoblast cells. PLAC1 is classified as a cancer-testis antigen due to its re-expression in various cancers, including breast, lung, and gastric cancers. The protein is involved in placental development, cell proliferation, and migration, and its aberrant expression is linked to tumorigenesis and poor prognosis in several malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PLAC1 overexpression promotes cell proliferation and migration via PI3K/AKT signaling | PMID: 25605247 |
| Gastric Cancer | PLAC1 upregulation correlates with tumor invasion and metastasis | PMID: 23792583 |
| Lung Cancer | PLAC1 re-expression as a cancer-testis antigen induces immune response | PMID: 16912135 |
| Placental Dysfunction | PLAC1 mutations may impair trophoblast function and placental development | OMIM: 300326 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 48.2 | High |
| Testis | 0.3 | Low |
| Breast | 0.1 | Not detected |
| Lung | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| JEG-3 (choriocarcinoma) | 12.5 | Placental cell line, high expression |
| MCF-7 (breast cancer) | 8.1 | Re-expressed in cancer |
| A549 (lung cancer) | 5.3 | Cancer-testis antigen expression |
| HEK293 (embryonic kidney) | 0.0 | No endogenous expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, unknown effect |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Rare variant, uncertain significance |
| c.415G>A (p.Gly139Ser) | Missense | <0.01% | Reported in COSMIC, functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLAC1.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • cell proliferation (GO:0008283) | • integral component of membrane (GO:0016021) |
| • negative regulation of apoptotic process (GO:0043066) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
PLAC1 is a 212-amino acid protein with a predicted signal peptide and a transmembrane domain. It is localized to the plasma membrane and extracellular region. The protein is highly expressed in placental trophoblasts and is involved in cell proliferation and survival. In cancer, PLAC1 re-expression contributes to tumor growth and metastasis, making it a potential biomarker and therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLAC1 Knockout HEK293 Cell Line | EDJ-KQ7155 | Human | 10761 | Details Get a Quote |
| PLAC1 Knockout A-549 Cell Line | EDJ-KQ32055 | Human | 10761 | Details Get a Quote |
| PLAC1 Knockout HCT 116 Cell Line | EDJ-KQ32056 | Human | 10761 | Details Get a Quote |
| PLAC1 Knockout HeLa Cell Line | EDJ-KQ32057 | Human | 10761 | Details Get a Quote |