MYO1C (Myosin IC): Actin-Based Motor Protein in Transcription and Membrane Dynamics
A versatile single-headed myosin involved in chromatin remodeling, vesicle trafficking, and hearing; implicated in cancer and metabolic disorders.
Gene Information Card
| Symbol | MYO1C |
|---|---|
| Full Name | Myosin IC |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 4641 ncbi.nlm.nih.gov/gene/4641 |
| Ensembl ID | ENSG00000162179 |
| UniProt ID | O00159 |
| OMIM ID | 606538 |
| HGNC ID | 7597 |
| Aliases | MYO1C, myosin-Ic, myosin 1C, MMIa, myosin I heavy chain, myosin I beta, myosin I gamma |
Description
MYO1C encodes myosin IC, a single-headed, non-filamentous actin-based motor protein. It is involved in intracellular motility, membrane trafficking, and anchoring of protein complexes to actin filaments. MYO1C plays a critical role in transcription by RNA polymerases I and II, chromatin remodeling, and in the mechanotransduction of auditory hair cells. It is ubiquitously expressed with high levels in the brain, kidney, and testis. Mutations and altered expression have been linked to hearing loss, cancer, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss (autosomal dominant) | Missense mutations in the motor domain disrupt actin binding and force generation, impairing hair cell mechanotransduction. | ClinVar: Pathogenic variants reported (e.g., p.Arg156Trp, p.Arg156Gln). |
| Colorectal cancer | Overexpression of MYO1C enhances cell migration and invasion; knockdown reduces tumor growth in xenografts. | COSMIC: Somatic mutations and copy number gains observed in colorectal cancer samples. |
| Breast cancer | MYO1C promotes epithelial-mesenchymal transition (EMT) and metastasis via PI3K/AKT signaling. | COSMIC: Somatic mutations and expression changes in breast cancer cell lines. |
| Type 2 diabetes | MYO1C regulates GLUT4 translocation to the plasma membrane; altered expression affects insulin-stimulated glucose uptake. | UniProt: Functional studies in adipocytes and muscle cells. |
| Glaucoma (primary open-angle) | MYO1C variants may affect trabecular meshwork contractility and aqueous humor outflow. | ClinVar: Risk alleles identified in GWAS studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Kidney | 10.8 | High |
| Testis | 9.5 | High |
| Liver | 6.2 | Medium |
| Heart | 5.1 | Medium |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.2 | High expression; involved in cell motility. |
| A549 (lung cancer) | 8.7 | Moderate expression; associated with invasion. |
| MCF7 (breast cancer) | 7.9 | Moderate expression; linked to EMT. |
| HepG2 (liver cancer) | 5.4 | Low expression. |
| SH-SY5Y (neuroblastoma) | 11.3 | High expression; neuronal function. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg156Trp | Missense | Rare (0.01% in gnomAD) | Pathogenic; causes autosomal dominant hearing loss. |
| p.Arg156Gln | Missense | Rare | Likely pathogenic; hearing loss. |
| p.Gly440Ser | Missense | Somatic (COSMIC) | Unknown; found in colorectal cancer. |
| p.Val1022Met | Missense | Somatic (COSMIC) | Unknown; found in breast cancer. |
| c.1234delA | Frameshift | Somatic (COSMIC) | Loss of function; may contribute to tumor progression. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein lead to loss of motor function, impairing actin-based motility and transcription regulation. This may contribute to cellular dysfunction and disease.
Gain of Function (GOF)
Some missense mutations (e.g., p.Arg156Trp) may alter ATPase activity or actin binding, potentially increasing motor activity or changing cargo binding, leading to aberrant cellular processes.
Dominant Negative (DN)
Certain missense mutations in the motor domain can produce a protein that binds actin but cannot generate force, interfering with wild-type myosin IC function in a dominant-negative manner, as seen in hearing loss.
View complete mutation data:
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • actin filament binding |
| • calmodulin binding | • phosphatidylinositol-4 |
| • 5-bisphosphate binding | • RNA polymerase II C-terminal domain binding |
| • chromatin binding | • cytoskeleton |
| • plasma membrane | • nucleus |
| • cytoplasm | • actin cytoskeleton |
| • cell projection | • stereocilium |
| • vesicle | • membrane |
| • ATP hydrolysis activity | • motor activity |
| • protein transport | • vesicle-mediated transport |
| • regulation of transcription by RNA polymerase II | • chromatin remodeling |
| • cell migration | • response to insulin |
Pathways
• Actin cytoskeleton regulation
• Vesicle trafficking (GLUT4 translocation)
• RNA polymerase I and II transcription
• Chromatin remodeling
• Auditory mechanotransduction
• PI3K-AKT signaling pathway (in cancer)
Protein Summary
Myosin IC is a single-headed, non-filamentous myosin that functions as a molecular motor. It contains an N-terminal motor domain with actin and ATP binding sites, a neck region with IQ motifs that bind calmodulin, and a C-terminal tail domain that interacts with membranes and protein complexes. It is involved in moving vesicles and organelles along actin filaments, anchoring protein complexes to the cytoskeleton, and regulating transcription by interacting with RNA polymerases and chromatin. In auditory hair cells, it is essential for adaptation of mechanotransduction channels. Its expression is ubiquitous, with higher levels in metabolically active tissues. Dysregulation of MYO1C is associated with hearing loss, cancer, and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO1C Knockout HEK293 Cell Line | EDJ-KQ5289 | Human | 4641 | Details Get a Quote |
| MYO1C Knockout A-549 Cell Line | EDJ-KQ28328 | Human | 4641 | Details Get a Quote |
| MYO1C Knockout HCT 116 Cell Line | EDJ-KQ28329 | Human | 4641 | Details Get a Quote |
| MYO1C Knockout HeLa Cell Line | EDJ-KQ28330 | Human | 4641 | Details Get a Quote |
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