| URN | urn:agi-llid:53904 |
|---|---|
| Total Entities | 0 |
| Connectivity | 19 |
| Name | Myo3a |
| Description | myosin IIIA |
| Notes | The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] |
| Ariadne Ontology | Actomyosin based movement |
|---|
| GO Molecular Function | calmodulin binding |
|---|---|
| actin binding | |
| actin filament binding | |
| nucleotide binding | |
| ADP binding | |
| ATP binding | |
| protein kinase activity | |
| protein serine-threonine kinase activity | |
| microfilament motor activity | |
| plus-end directed microfilament motor activity | |
| actin-dependent ATPase activity |
| GO Cellular Component | stereocilium bundle tip |
|---|---|
| myosin complex | |
| filamentous actin | |
| photoreceptor inner segment | |
| cytoplasm | |
| filopodium tip | |
| filopodium |
| GO Biological Process | response to stimulus |
|---|---|
| positive regulation of filopodium assembly | |
| peptidyl-threonine phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| inner ear development | |
| visual perception | |
| sensory perception of sound |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Actomyosin based movement |
|---|---|
| response to stimulus | |
| positive regulation of filopodium assembly | |
| peptidyl-threonine phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| inner ear development | |
| visual perception | |
| sensory perception of sound | |
| calmodulin binding | |
| actin binding | |
| actin filament binding | |
| nucleotide binding | |
| ADP binding | |
| ATP binding | |
| protein kinase activity | |
| protein serine-threonine kinase activity | |
| microfilament motor activity | |
| plus-end directed microfilament motor activity | |
| actin-dependent ATPase activity | |
| stereocilium bundle tip | |
| myosin complex | |
| filamentous actin | |
| photoreceptor inner segment | |
| cytoplasm | |
| filopodium tip | |
| filopodium |
| MedScan ID | 53904 |
|---|
| Hugo ID | 7601 |
|---|
| Human chromosome position | 10p11.1 |
|---|
| LocusLink ID | 53904 |
|---|---|
| 667663 | |
| 498806 |
| Alias | DFNB30 |
|---|---|
| myosin-IIIa | |
| 9030416P08Rik | |
| RGD1560083 | |
| myosin IIIA | |
| deafness, autosomal recessive 30 | |
| NM_148413 | |
| OTTMUSP00000012266 | |
| OTTMUSP00000012227 | |
| OTTHUMP00000019339 | |
| MYO3A | |
| 9030416P08 | |
| LOC664784 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606808 |
|---|---|
| 607101 |
| Unigene ID | Hs.662630 |
|---|---|
| Mm.330033 |
| KEGG ID | hsa:53904 |
|---|---|
| mmu:667663 | |
| rno:498806 |
| Swiss-Prot Accession | Q8NEV4 |
|---|---|
| F6QNG5 | |
| Q8K3H5 | |
| Q5VZ28 | |
| Q8WX17 | |
| Q9NYS8 |
| EC Number | 2.7.11.1 |
|---|
| GO ID | 0043531 |
|---|---|
| 0005524 | |
| 0003779 | |
| 0030898 | |
| 0005516 | |
| 0000146 | |
| 0060002 | |
| 0004672 | |
| 0004674 | |
| 0046777 | |
| 0050896 | |
| 0007605 | |
| 0007601 | |
| 0005737 | |
| 0031941 | |
| 0030175 | |
| 0016459 | |
| 0051015 | |
| 0000166 | |
| 0048839 | |
| 0018105 | |
| 0018107 | |
| 0051491 | |
| 0032433 | |
| 0001917 | |
| 0032426 |
| Swiss-Prot ID | MYO3A_HUMAN |
|---|
| Cell Localization | Cytoplasm |
|---|---|
| cytoskeleton |
| IPI ID | IPI00185036 |
|---|
| Mouse chromosome position | 2 |
|---|
| Rat chromosome position | 17q12.3 |
|---|
| Homologene ID | 49486 |
|---|
| MGI ID | 2183924 |
|---|
| RGD ID | 1560083 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|