MYO1A
Myosin IA, a class I unconventional myosin involved in actin-based membrane trafficking and hearing
Gene Information Card
| Symbol | MYO1A |
|---|---|
| Full Name | myosin IA |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 4640 ncbi.nlm.nih.gov/gene/4640 |
| Ensembl ID | ENSG00000166888 |
| UniProt ID | Q9UBC5 |
| OMIM ID | 601478 |
| HGNC ID | 7597 |
| Aliases | BBM, MIHC, MYHL, DFNA48 |
Description
MYO1A encodes myosin IA, a member of the class I unconventional myosins. These actin-based motor proteins are involved in membrane trafficking, cytoskeletal organization, and mechanotransduction. MYO1A is highly expressed in the inner ear and intestinal brush border, where it links the actin cytoskeleton to the plasma membrane. Mutations in MYO1A cause autosomal dominant nonsyndromic hearing loss (DFNA48).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 48 (DFNA48) | Missense or frameshift mutations impair actin-binding or motor activity, disrupting hair cell stereocilia function | ClinVar, OMIM |
| Colorectal cancer (potential) | Altered expression may affect cell adhesion and migration; somatic mutations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 78.5 | High |
| Stomach | 45.2 | Medium |
| Kidney | 30.1 | Medium |
| Inner ear (cochlea) | 25.0 | Medium |
| Colon | 22.8 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 65.0 | High expression; brush border model |
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 2.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1663C>T (p.Arg555Cys) | Missense | <0.01% | Reduced ATPase activity; associated with DFNA48 |
| c.2119delG (p.Ala707Profs*12) | Frameshift | <0.01% | Premature truncation; loss of motor function |
| c.1006G>A (p.Gly336Arg) | Missense | <0.01% | Impaired actin binding; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking motor domain, resulting in haploinsufficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg555Cys) may produce a defective protein that interferes with wild-type myosin IA function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • ATP-dependent activity | • actin filament binding |
| • microtubule motor activity | • calmodulin binding |
| • actin cytoskeleton organization | • vesicle transport along actin filament |
| • hearing |
Pathways
• Unconventional myosin-mediated vesicle transport
• Actin cytoskeleton regulation
• Mechanotransduction in hair cells
Protein Summary
Myosin IA (UniProt Q9UBC5) is a 1043-amino-acid unconventional myosin with an N-terminal motor domain, a neck region with IQ motifs that bind calmodulin, and a C-terminal tail domain. It functions as an actin-based molecular motor, transporting vesicles and linking membranes to the actin cytoskeleton. In the inner ear, it is essential for stereocilia maintenance and mechanoelectrical transduction. In intestinal epithelial cells, it organizes the brush border microvilli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO1A Knockout HEK293 Cell Line | EDJ-KQ5288 | Human | 4640 | Details Get a Quote |
| MYO1A Knockout HeLa Cell Line | EDJ-KQ53949 | Human | 4640 | Details Get a Quote |
| MYO1A Knockout A-549 Cell Line | EDJ-KQ62442 | Human | 4640 | Details Get a Quote |
| MYO1A Knockout HCT 116 Cell Line | EDJ-KQ70907 | Human | 4640 | Details Get a Quote |
