PML Gene (Promyelocytic Leukemia)
Tumor Suppressor and Key Regulator of Apoptosis and Genomic Stability
Gene Information Card
| Symbol | PML |
|---|---|
| Full Name | PML nuclear body scaffold protein (formerly promyelocytic leukemia) |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 5371 ncbi.nlm.nih.gov/gene/5371 |
| Ensembl ID | ENSG00000140464 |
| UniProt ID | P29590 |
| OMIM ID | 102578 |
| HGNC ID | 9113 |
| Aliases | MYL, RNF71, TRIM19, PP8675 |
Description
The PML gene encodes a tumor suppressor protein that localizes to nuclear bodies (PML-NBs) and functions in apoptosis, cell cycle regulation, senescence, and maintenance of genomic stability. It is a member of the tripartite motif (TRIM) family. The gene is most notably involved in acute promyelocytic leukemia (APL) via chromosomal translocation t(15;17) that fuses PML with the retinoic acid receptor alpha (RARA) gene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute promyelocytic leukemia (APL) | t(15;17)(q24;q21) translocation fuses PML with RARA, blocking differentiation and promoting proliferation | OMIM #612376; COSMIC; ClinVar |
| PML-RARA-associated leukemia | PML-RARA fusion protein disrupts PML nuclear bodies and RARA signaling | NCBI Gene; OMIM 102578 |
| Solid tumors (breast, lung, prostate) | Loss of PML expression or function contributes to tumor progression | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Testis | 8.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NB4 (APL cell line) | 15.0 | PML-RARA positive |
| HeLa | 11.2 | Cervical cancer |
| HEK293 | 9.5 | Embryonic kidney |
| K562 | 8.7 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| t(15;17)(q24;q21) | Translocation | Common in APL | Generates PML-RARA fusion oncoprotein |
| Missense (e.g., p.Cys212Tyr) | Missense | Rare | Disrupts zinc finger domain and nuclear body formation |
| Nonsense (e.g., p.Arg294*) | Nonsense | Rare | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense/nonsense mutations that disrupt PML nuclear body formation and tumor suppressor activity.
Gain of Function (GOF)
PML-RARA fusion acts as a dominant oncogene by blocking differentiation.
Dominant Negative (DN)
PML-RARA interferes with wild-type PML and RARA signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoic acid signaling pathway
• p53 signaling pathway
• Apoptosis
• Cell cycle – G1/S checkpoint
Protein Summary
PML is a scaffold protein essential for the formation of nuclear bodies (PML-NBs) that recruit and regulate numerous partners involved in apoptosis, DNA damage response, and senescence. It acts as a tumor suppressor. The PML-RARA fusion protein resulting from t(15;17) is the hallmark of acute promyelocytic leukemia and is targeted by arsenic trioxide and all-trans retinoic acid (ATRA) therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PML Knockout HEK293 Cell Line | EDJ-KQ14815 | Human | 5371 | Details Get a Quote |
| PML Knockout HeLa Cell Line | EDJ-KQ18073 | Human | 5371 | Details Get a Quote |
| PML Knockout A-549 Cell Line | EDJ-KQ43983 | Human | 5371 | Details Get a Quote |
| PML Knockout HCT 116 Cell Line | EDJ-KQ45249 | Human | 5371 | Details Get a Quote |
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