Q64331
SS
Gene name |
Myo6 (Sv) |
Protein name |
Unconventional myosin-VI |
Names |
Protein twist , Unconventional myosin-6 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:17920 |
EC number |
|
Protein Class |
|
Descriptions
Myosin VI (Myo6) is the only minus-end directed nanomotor on actin and is essential for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. The N-terminal region of the SAH domain folds back on the 3HB domain, thus adopting Myo6 to an elongated conformation that inhibits its activity. Notably, not all partners are capable of relieving the autoinhibition of Myo6. TOM1 and Dab2 are unable to bind the off-state of Myo6, while GIPC1 binds Myo6, releases its autoinhibition, and triggers proximal dimerization. The L926Q deafness mutation also disrupts the autoinhibition of Myo6 and indirectly impairs its proximal dimerization.
Autoinhibitory domains (AIDs)
Target domain |
834-917 (3HB domain) |
Relief mechanism |
Partner binding, Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
7 structures for Q64331
65 variants for Q64331
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389055072 | 3 | D>G | No | EVA | |
| rs3389070025 | 21 | I>N | No | EVA | |
| rs3389028228 | 68 | L>V | No | EVA | |
| rs3389060449 | 76 | N>I | No | EVA | |
| rs3389036302 | 98 | N>I | No | EVA | |
| rs3389059387 | 133 | K>* | No | EVA | |
| rs3389065487 | 152 | E>* | No | EVA | |
| rs3389059230 | 156 | G>S | No | EVA | |
| rs3389065441 | 156 | G>V | No | EVA | |
| rs3389060409 | 167 | Y>F | No | EVA | |
| rs3389036268 | 188 | L>F | No | EVA | |
| rs3389070005 | 215 | N>S | No | EVA | |
| rs3389069404 | 216 | E>* | No | EVA | |
| rs3389056813 | 217 | K>T | No | EVA | |
| rs3389036259 | 227 | H>D | No | EVA | |
| rs3389036265 | 250 | R>W | No | EVA | |
| rs3389040161 | 266 | S>R | No | EVA | |
| rs3389063983 | 273 | Y>N | No | EVA | |
| rs3389069951 | 277 | G>D | No | EVA | |
| rs3400391871 | 392 | T>S | No | EVA | |
| rs3389062812 | 465 | H>R | No | EVA | |
| rs3389028270 | 470 | Q>H | No | EVA | |
| rs3399860889 | 493 | Q>H | No | EVA | |
| rs3400487689 | 495 | L>Q | No | EVA | |
| rs51699403 | 516 | D>G | No | EVA | |
| rs3389069960 | 545 | S>F | No | EVA | |
| rs250716496 | 561 | R>S | No | EVA | |
| rs3389070010 | 562 | K>N | No | EVA | |
| rs3389060419 | 638 | L>I | No | EVA | |
| rs3389069986 | 654 | L>H | No | EVA | |
| rs3389065515 | 664 | S>I | No | EVA | |
| rs3389069439 | 689 | L>F | No | EVA | |
| rs3400072687 | 703 | G>N | No | EVA | |
| rs3389056816 | 707 | S>L | No | EVA | |
| rs3389069466 | 713 | E>Q | No | EVA | |
| rs3389055079 | 717 | M>L | No | EVA | |
| rs1135077443 | 727 | A>T | No | EVA | |
| rs1131939476 | 732 | R>S | No | EVA | |
| rs1133084260 | 734 | F>L | No | EVA | |
| rs1135046770 | 736 | K>E | No | EVA | |
| rs3389064021 | 750 | K>T | No | EVA | |
| 763 | F>del | Snell's waltzer [UniProt] | No | ||
| rs3389036247 | 768 | Q>K | No | EVA | |
| rs3389006979 | 769 | I>S | No | EVA | |
| rs264517584 | 844 | G>A | No | EVA | |
| rs3389036250 | 887 | S>Y | No | EVA | |
| rs3400487671 | 967 | E>D | No | EVA | |
| rs3400439631 | 968 | E>D | No | EVA | |
| rs3389064015 | 1095 | K>N | No | EVA | |
| rs3389060414 | 1099 | R>I | No | EVA | |
| rs3389062738 | 1105 | Q>* | No | EVA | |
| rs3389048592 | 1119 | F>V | No | EVA | |
| rs3389056755 | 1130 | A>V | No | EVA | |
| rs259968002 | 1140 | D>E | No | EVA | |
| rs224766979 | 1142 | K>N | No | EVA | |
| rs3389069391 | 1142 | K>T | No | EVA | |
| rs3389060445 | 1163 | Q>* | No | EVA | |
| rs3389062799 | 1178 | W>* | No | EVA | |
| rs3389065509 | 1183 | M>I | No | EVA | |
| rs3389048557 | 1210 | E>D | No | EVA | |
| rs3389060446 | 1210 | E>V | No | EVA | |
| rs3389048550 | 1217 | R>H | No | EVA | |
| rs3389006967 | 1222 | L>S | No | EVA | |
| rs3389059197 | 1232 | R>G | No | EVA | |
| rs3389062785 | 1233 | C>S | No | EVA |
1 associated diseases with Q64331
Without disease ID
5 regional properties for Q64331
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Myosin head, motor domain | 51 - 772 | IPR001609 |
| domain | Myosin, N-terminal, SH3-like | 2 - 53 | IPR004009 |
| domain | Myosin VI, cargo binding domain | 1145 - 1235 | IPR032412 |
| domain | Class VI myosin, motor domain | 71 - 759 | IPR036114 |
| domain | Myosin VI, lever arm | 770 - 917 | IPR049016 |
Functions
29 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| clathrin-coated pit | A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes. |
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| cochlear hair cell ribbon synapse | A ribbon synpase of an auditory hair cell of the cochlear. These ribbon synapses contain spherical synaptic ribbons and lack and arciform density. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle | A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic actin cytoskeleton | The actin cytoskeleton that is part of a postsynapse. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| presynaptic endocytic zone | A specialized region of the plasma membrane and underlying cytoplasm which surround the the active zone, into which synaptic vesicle membranes are recycled following exocytosis. It is especially enriched in endocytic proteins following intense activity. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
| cellular response to electrical stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electrical stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| dendrite development | The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. |
| glutamate secretion | The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. |
| inner ear auditory receptor cell differentiation | The process in which a relatively unspecialized inner cell acquires specialized features of an auditory hair cell. |
| inner ear development | The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure. |
| inner ear morphogenesis | The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively. |
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| postsynaptic neurotransmitter receptor internalization | A receptor-mediated endocytosis process that results in the internalization of a neurotransmitter receptor from the postsynaptic membrane endocytic zone into an endocytic vesicle. |
| presynaptic modulation of chemical synaptic transmission | Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| protein targeting | The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| synapse assembly | The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). |
| vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E1BPK6 | MYO6 | Unconventional myosin-VI | Bos taurus (Bovine) | SS |
| Q9I8D1 | MYO6 | Unconventional myosin-VI | Gallus gallus (Chicken) | SS |
| Q9UM54 | MYO6 | Unconventional myosin-VI | Homo sapiens (Human) | EV |
| E9Q634 | Myo1e | Unconventional myosin-Ie | Mus musculus (Mouse) | PR |
| P21271 | Myo5b | Unconventional myosin-Vb | Mus musculus (Mouse) | SS |
| Q99104 | Myo5a | Unconventional myosin-Va | Mus musculus (Mouse) | EV |
| Q29122 | MYO6 | Unconventional myosin-VI | Sus scrofa (Pig) | SS |
| Q9M2K0 | XI-J | Myosin-16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEDGKPVWAP | HPTDGFQMGN | IVDIGPDSLT | IEPLNQKGKT | FLALINQVFP | AEEDSKKDVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DNCSLMYLNE | ATLLHNVKVR | YSKDRIYTYV | ANILIAVNPY | FDIPKIYSSD | TIKSYQGKSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTMPPHVFAI | ADKAFRDMKV | LKMSQSIIVS | GESGAGKTEN | TKFVLRYLTE | SYGTGQDIDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIVEANPLLE | AFGNAKTVRN | NNSSRFGKFV | EIHFNEKSSV | VGGFVSHYLL | EKSRICVQGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EERNYHIFYR | LCAGASEDIR | EKLHLSSPDN | FRYLNRGCTR | FFANKETDKQ | ILQNRKSPEY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VKAGSLKDPL | LDDHGDFIRM | CTAMKKIGLD | DEEKLDLFRV | VAGVLHLGNI | DFEEAGSTSG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GCNLKNKSAP | SLEYCAELLG | LDQDDLRVSL | TTRVMLTTAG | GTKGTVIKVP | LKVEQANNAR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DALAKTVYSH | LFDHVVNRVN | QCFPFETSSY | FIGVLDIAGF | EYFEHNSFEQ | FCINYCNEKL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QQFFNERILK | EEQELYQKEG | LGVNEVHYVD | NQDCIDLIEV | KLVGILDILD | EENRLPQPSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QHFTSVVHQK | HKDHFRLTIP | RKSKLAVHRN | LRDDEGFIIR | HFAGAVCYET | TQFVEKNNDA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LHMSLESLIC | ESRDKFIRAL | FESSTNNNKD | TKQKAGKLSF | ISVGNKFKTQ | LNLLLDKLRS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TGASFIRCIK | PNLKMTSHHF | EGAQILSQLQ | CSGMVSVLDL | MQGGFPSRAS | FHELYNMYKK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YMPEKLARLD | PRLFCKALFK | ALGLNEVDYK | FGLTKVFFRP | GKFAEFDQIM | KSDPDHLAEL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VKRVNLWLVC | SRWKKVQWCS | LSVIKLKNKI | KYRAEACIKM | QKTIRMWLCK | RRHKPRIDGL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VKVGTLKKRL | DKFNEVVSAL | KDGKPEVNRQ | IKNLEISIDA | LMAKIKSTMM | TREQIQKEYD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ALVKSSEDLL | SALQKKKQQE | EEAERLRRIQ | EEMEKERKRR | EEDEERRRKE | EEERRMKLEM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EAKRKQEEEE | RKKREDDEKR | IQAEVEAQLA | RQREEESQQQ | AVLAQECRDR | ELALRIAQNE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SELISDEAQG | DMALRRGPAV | QATKAAAGTK | KHDLSKWKYA | ELRDTINTSC | DIELLAACRE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EFHRRLKVYH | AWKSKNKKRN | TETEQRAPKS | VTDYDFAPFL | NNSPQQNPAA | QLPARQQEID |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| MKRQQRFFRI | PFIRPADQYK | DPQNKKKGWW | YAHFDGPWIA | RQMELHPDKP | PILLVAGKDD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MEMCELNLEE | TGLTRKRGAE | ILPRQFEEIW | ERCGGIQYLQ | SAIESRQARP | TYATAMLQNL |
| LK |