MYO1D
Myosin ID: A class I myosin involved in actin-based membrane trafficking and cell motility
Gene Information Card
| Symbol | MYO1D |
|---|---|
| Full Name | myosin ID |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 4642 ncbi.nlm.nih.gov/gene/4642 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | O94832 |
| OMIM ID | 601480 |
| HGNC ID | 7599 |
| Aliases | myosin-Id, myosin I alpha, MYO1A, myosin I heavy chain, myosin I beta |
Description
MYO1D encodes a member of the class I myosin family of actin-based motor proteins. These proteins are involved in membrane trafficking, cell motility, and cytoskeletal organization. MYO1D is expressed in various tissues and plays a role in endocytosis, exocytosis, and the movement of vesicles along actin filaments.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal dominant 22 (DFNA22) | Missense mutations in MYO1D disrupt actin-based motor function in hair cells, leading to progressive hearing loss. | ClinVar, OMIM |
| Usher syndrome type 1 | MYO1D variants may contribute to the phenotype when combined with other gene defects, though not a primary cause. | ClinVar, OMIM |
| Cancer (various) | Altered MYO1D expression or mutations may affect cell migration and invasion in tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 6.1 | Low |
| Lung | 10.4 | Medium |
| Muscle | 4.7 | Low |
| Pancreas | 9.8 | Medium |
| Placenta | 11.3 | Medium |
| Small intestine | 14.1 | Medium |
| Spleen | 7.2 | Low |
| Testis | 18.6 | High |
| Thyroid | 13.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
| MCF7 | 11.2 | Breast cancer cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2215C>T (p.Arg739Cys) | Missense | <0.01% | Reported in DFNA22; disrupts actin binding |
| c.2860G>A (p.Gly954Ser) | Missense | <0.01% | Likely pathogenic in hearing loss |
| c.1234_1236del (p.Lys412del) | In-frame deletion | <0.01% | Functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the motor domain reduce actin-activated ATPase activity and impair vesicle transport.
Gain of Function (GOF)
Not reported for MYO1D.
Dominant Negative (DN)
Some missense variants may interfere with wild-type myosin function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • actin filament binding |
| • calmodulin binding | • myosin complex |
| • cytoplasm | • cell projection |
| • membrane |
Pathways
• Actin-based vesicle transport
• Endocytosis
• Cell motility
Protein Summary
MYO1D is a 110 kDa protein with an N-terminal motor domain that binds actin and hydrolyzes ATP, a neck region with IQ motifs that bind calmodulin, and a C-terminal tail domain that interacts with membranes and cargo. It functions as a monomeric motor that moves vesicles along actin filaments, contributing to membrane dynamics and cell shape changes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO1D Knockout HEK293 Cell Line | EDJ-KQ5290 | Human | 4642 | Details Get a Quote |
| MYO1D Knockout A-549 Cell Line | EDJ-KQ27106 | Human | 4642 | Details Get a Quote |
| MYO1D Knockout HCT 116 Cell Line | EDJ-KQ28332 | Human | 4642 | Details Get a Quote |
| MYO1D Knockout HeLa Cell Line | EDJ-KQ53950 | Human | 4642 | Details Get a Quote |
