MYO6
Summary: This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| myosin VI | MIM:600970 | Ensembl:ENSG00000196586 | HGNC:HGNC:7605 | PA31410 | 6q14.1 |
Gene Categories:
DRUG RESISTANCEGO terms in MYO6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0006886 | intracellular protein transport |
| BP | IMP | GO:0006897 | endocytosis |
| BP | ISS | GO:0006897 | endocytosis |
| BP | IEA | GO:0007018 | microtubule-based movement |
| BP | IEA | GO:0007605 | sensory perception of sound |
| BP | ISS | GO:0030048 | actin filament-based movement |
| BP | NAS | GO:0030048 | actin filament-based movement |
| BP | IDA | GO:0030330 | DNA damage response, signal transduction by p53 class mediator |
| BP | IEA | GO:0042493 | response to drug |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0051046 | regulation of secretion |
| CC | IDA | GO:0001726 | ruffle |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005902 | microvillus |
| CC | IEA | GO:0005905 | clathrin-coated pit |
| CC | ISS | GO:0005938 | cell cortex |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0016461 | unconventional myosin complex |
| CC | IDA | GO:0016591 | DNA-directed RNA polymerase II, holoenzyme |
| CC | ISS | GO:0030139 | endocytic vesicle |
| CC | IEA | GO:0030665 | clathrin-coated vesicle membrane |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
| CC | IDA | GO:0031941 | filamentous actin |
| CC | ISS | GO:0031941 | filamentous actin |
| CC | IDA | GO:0031965 | nuclear membrane |
| CC | IEA | GO:0032587 | ruffle membrane |
| CC | IEA | GO:0045177 | apical part of cell |
| CC | IDA | GO:0045334 | clathrin-coated endocytic vesicle |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | ISS | GO:0048471 | perinuclear region of cytoplasm |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | ISS | GO:0003774 | motor activity |
| MF | IEA | GO:0003777 | microtubule motor activity |
| MF | TAS | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0005516 | calmodulin binding |
| MF | TAS | GO:0005516 | calmodulin binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0008017 | microtubule binding |
| MF | ISS | GO:0043531 | ADP binding |
| MF | IDA | GO:0051015 | actin filament binding |
| MF | ISS | GO:0051015 | actin filament binding |
| MF | NAS | GO:0060001 | minus-end directed microfilament motor activity |
Gene expression in normal tissue: MYO6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MYO6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
| netpath | Pathway_EGFR1 | EGFR1 |
| pid | ecadherin_stabilization_pathway | Stabilization and expansion of the E-cadherin adherens junction |
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-157858 | Gap junction trafficking and regulation |
| reactome | R-HSA-190828 | Gap junction trafficking |
| reactome | R-HSA-190873 | Gap junction degradation |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-399719 | Trafficking of AMPA receptors |
| reactome | R-HSA-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MYO6
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