MRTFA Gene - Myocardin Related Transcription Factor A
Key regulator of actin cytoskeleton dynamics and serum response factor (SRF) transcriptional activity
Gene Information Card
| Symbol | MRTFA |
|---|---|
| Full Name | Myocardin Related Transcription Factor A |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 57591 ncbi.nlm.nih.gov/gene/57591 |
| Ensembl ID | ENSG00000100297 |
| UniProt ID | Q969V6 |
| OMIM ID | 606078 |
| HGNC ID | 14341 |
| Aliases | MKL1, BSAC, MAL, MRTF-A |
Description
MRTFA (myocardin related transcription factor A), also known as MKL1, is a transcriptional coactivator that binds to serum response factor (SRF) and activates genes involved in actin cytoskeleton dynamics, cell migration, and smooth muscle differentiation. It is regulated by actin polymerization and shuttles between the cytoplasm and nucleus in response to Rho signaling. MRTFA plays critical roles in development, cardiovascular function, and cancer metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute megakaryoblastic leukemia (AMKL) | Fusion of MRTFA with RBM15 (OTT-MAL) drives leukemogenesis | OMIM #606078; COSMIC |
| Cardiovascular disease | MRTFA regulates SRF target genes involved in vascular smooth muscle contraction and cardiac hypertrophy | NCBI Gene; PubMed |
| Cancer metastasis | MRTFA promotes actin polymerization and cell migration; overexpression linked to invasive phenotypes | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.8 | Lung adenocarcinoma |
| MCF7 | 7.5 | Breast cancer |
| K562 | 5.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| RBM15-MRTFA fusion | Translocation | Rare | Oncogenic fusion in acute megakaryoblastic leukemia |
| Missense variants | Single nucleotide | Low | Functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; knockout in mice leads to impaired smooth muscle differentiation and cardiac defects.
Gain of Function (GOF)
RBM15-MRTFA fusion results in constitutive activation of SRF target genes, promoting leukemogenesis.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003713 - transcription coactivator activity | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm | • GO:0007015 - actin filament organization |
| • GO:0045944 - positive regulation of transcription by RNA polymerase II |
Pathways
• Rho GTPase signaling
• Actin cytoskeleton regulation
• SRF-dependent transcription
Protein Summary
MRTFA is a 931-amino acid protein containing an N-terminal RPEL domain that mediates actin binding and nuclear shuttling, a basic region for DNA binding, and a transactivation domain. It acts as a coactivator of SRF, driving expression of cytoskeletal and contractile genes. Nuclear translocation is triggered by RhoA-induced actin polymerization. The protein is implicated in megakaryocyte differentiation and cancer cell invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRTFA Knockout HEK293 Cell Line | EDC08324 | Human | 57591 | Details Get a Quote |
| MRTFA Knockout A-549 Cell Line | EDJ-KQ44396 | Human | 57591 | Details Get a Quote |
| MRTFA Knockout HCT 116 Cell Line | EDJ-KQ44397 | Human | 57591 | Details Get a Quote |
| MRTFA Knockout HeLa Cell Line | EDJ-KQ44398 | Human | 57591 | Details Get a Quote |
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