PRMT1: Protein Arginine Methyltransferase 1
Key regulator of arginine methylation in cellular processes and disease
Gene Information Card
| Symbol | PRMT1 |
|---|---|
| Full Name | Protein Arginine Methyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3276 ncbi.nlm.nih.gov/gene/3276 |
| Ensembl ID | ENSG00000126457 |
| UniProt ID | Q99873 |
| OMIM ID | 602950 |
| HGNC ID | 9346 |
| Aliases | HMT2, HRMT1L2, IR1B4 |
Description
PRMT1 encodes a type I protein arginine methyltransferase that catalyzes the formation of asymmetric dimethylarginine (ADMA) on target proteins. It regulates diverse cellular processes including signal transduction, RNA processing, DNA repair, and transcriptional regulation. PRMT1 is the predominant arginine methyltransferase in mammalian cells and is implicated in cancer, cardiovascular disease, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PRMT1 overexpression promotes cell proliferation and migration via methylation of estrogen receptor alpha and other oncogenic targets | ClinVar, COSMIC |
| Colorectal cancer | PRMT1 upregulation correlates with poor prognosis; methylation of STAT1 and other transcription factors enhances tumor growth | COSMIC, NCBI |
| Cardiovascular disease | PRMT1-mediated ADMA production contributes to endothelial dysfunction and atherosclerosis | OMIM, NCBI |
| Acute myeloid leukemia | PRMT1 fusion with MLL (KMT2A) drives leukemogenesis through aberrant methylation | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Liver | 22.1 | High |
| Brain | 15.3 | Medium |
| Lung | 18.7 | Medium |
| Kidney | 20.4 | High |
| Testis | 35.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| MCF7 | 28.9 | Breast cancer cell line |
| HEK293 | 25.6 | Embryonic kidney cells |
| K562 | 30.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | 0.02% | Reduced methyltransferase activity |
| c.421C>T (p.Arg141Trp) | Missense | 0.01% | Loss of substrate binding |
| c.586_588del (p.Glu196del) | In-frame deletion | 0.005% | Altered protein stability |
| c.739C>T (p.Arg247Ter) | Nonsense | 0.003% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or eliminate methyltransferase activity, e.g., p.Gly38Arg and p.Arg247Ter.
Gain of Function (GOF)
Gene amplification or overexpression leading to increased methylation of oncogenic targets, observed in breast and colorectal cancers.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with dimerization but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arginine and proline metabolism
• Transcriptional regulation by RUNX1
• Estrogen receptor signaling
• DNA damage response
Protein Summary
PRMT1 is a 361-amino acid protein that functions as a homodimer. It methylates arginine residues on histones (e.g., H4R3) and non-histone proteins, regulating chromatin structure and signal transduction. The protein contains a conserved methyltransferase domain and is localized predominantly in the nucleus and cytoplasm. PRMT1 activity is essential for embryonic development and is dysregulated in multiple cancers.
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