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.

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 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
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