PLAG1: Pleomorphic Adenoma Gene 1
A zinc finger transcription factor involved in salivary gland tumors and developmental processes
Gene Information Card
| Symbol | PLAG1 |
|---|---|
| Full Name | Pleomorphic Adenoma Gene 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 5324 ncbi.nlm.nih.gov/gene/5324 |
| Ensembl ID | ENSG00000181690 |
| UniProt ID | Q6DJT9 |
| OMIM ID | 603026 |
| HGNC ID | 9044 |
| Aliases | Pleomorphic adenoma gene 1, ZAC1, LOT1 |
Description
PLAG1 (Pleomorphic Adenoma Gene 1) encodes a zinc finger transcription factor that binds to DNA and regulates gene expression. It is frequently rearranged and overexpressed in pleomorphic adenomas of the salivary glands, as well as in lipoblastomas and hepatoblastomas. The protein contains seven C2H2 zinc finger domains and a nuclear localization signal. PLAG1 acts as a proto-oncogene by activating target genes such as IGF2, CRLF1, and others involved in cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pleomorphic adenoma of salivary glands | PLAG1 rearrangements (e.g., CTNNB1-PLAG1, LIFR-PLAG1 fusions) lead to overexpression of PLAG1, driving tumorigenesis via IGF2 and other targets. | Strong: recurrent fusions identified in >50% of pleomorphic adenomas (OMIM #603026, COSMIC). |
| Lipoblastoma | PLAG1 fusions (e.g., HAS2-PLAG1, COL1A2-PLAG1) cause overexpression, promoting adipocytic proliferation. | Strong: recurrent fusions in lipoblastoma (OMIM #603026, COSMIC). |
| Hepatoblastoma | PLAG1 activation via promoter swapping or amplification contributes to liver tumor development. | Moderate: reported in subset of hepatoblastomas (COSMIC, NCBI). |
| Acute myeloid leukemia | PLAG1 overexpression or rearrangement may contribute to leukemogenesis. | Limited: rare cases reported (COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.5 | Medium |
| Adipose tissue | 8.2 | Low |
| Liver | 6.1 | Low |
| Placenta | 15.3 | Medium |
| Testis | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HepG2 | 11.5 | Hepatoblastoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CTNNB1-PLAG1 fusion | Gene fusion | Recurrent in pleomorphic adenoma | Leads to PLAG1 overexpression |
| LIFR-PLAG1 fusion | Gene fusion | Recurrent in pleomorphic adenoma | Leads to PLAG1 overexpression |
| HAS2-PLAG1 fusion | Gene fusion | Recurrent in lipoblastoma | Leads to PLAG1 overexpression |
| COL1A2-PLAG1 fusion | Gene fusion | Recurrent in lipoblastoma | Leads to PLAG1 overexpression |
| PLAG1 amplification | Copy number gain | Occasional in hepatoblastoma | Increased PLAG1 expression |
Mutation functional classification
Loss of Function (LOF)
Not reported as a common mechanism; PLAG1 acts primarily as an oncogene via overexpression.
Gain of Function (GOF)
Fusions and amplifications lead to gain-of-function by overexpression of wild-type PLAG1, driving target gene activation.
Dominant Negative (DN)
Not described for PLAG1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IGF2 signaling pathway (via PLAG1 activation of IGF2)
• PI3K-Akt signaling pathway (downstream of IGF2)
• MAPK signaling pathway (downstream of IGF2)
Protein Summary
PLAG1 is a 500-amino acid nuclear zinc finger transcription factor with seven C2H2 domains. It binds to specific DNA sequences (PLAG1 response elements) to activate transcription of target genes, most notably IGF2, which promotes cell growth and proliferation. The protein is normally expressed at low levels in adult tissues but is highly expressed in certain tumors due to chromosomal rearrangements that place strong promoters upstream of the PLAG1 coding region. PLAG1 also interacts with other transcription factors and co-activators to modulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLAG1 Knockout HEK293 Cell Line | EDJ-KQ5479 | Human | 5324 | Details Get a Quote |
| PLAG1 Knockout HeLa Cell Line | EDJ-KQ28695 | Human | 5324 | Details Get a Quote |
| PLAG1 Knockout A-549 Cell Line | EDJ-KQ62645 | Human | 5324 | Details Get a Quote |
| PLAG1 Knockout HCT 116 Cell Line | EDJ-KQ71113 | Human | 5324 | Details Get a Quote |
