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FLASH GENE
Symbol MYO6 contributors: mct/npt/pgu - updated : 24-06-2015
HGNC name myosin VI
HGNC id 7605
RNA
TRANSCRIPTS type messenger
text two alternative splice variants
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
35 splicing 8662 - 1285 kidney 2000 10644428
- splicing - - - highly, in retina (RPE) 2000 10644428
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarytubular cell Homo sapiensAdult
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text cochlea (articular plate of hair cells)
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal motor domain containing ATP and actin-binding sites
  • a unique large insertion at the end of the motor domain
  • a neck containing one IQ calmodulin or calmodulin-like light chain binding domains, connected to the base (converter) of a long alpha helical tail (the liver)
  • a tail containing a coiled coil segment
  • a C terminal globular domain
  • HOMOLOGY
    interspecies ortholog to murine Myo6
    Homologene
    FAMILY
    CATEGORY motor/contractile , structural protein , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope
    text
  • trans-Golgi network and in protrusions in plama membrane
  • with CALCOCO2 and TAX1BP1 are present at the trans side of the Golgi complex, and on vesicles in the perinuclear region
  • myosin VI and OPTN colocalize with secretory vesicles at the plasma membrane
  • in prophase, recruited to the spindle poles and in cytokinesis, is targeted to the walls of the ingressing cleavage furrow, with a dramatic concentration in the midbody region
  • basic FUNCTION
  • unconventional, required for structural integrity and stereocilia function of inner hair cells
  • processive motor contractile protein moving in the reverse direction, toward the "minus" end of actin track, apparently non filamentous
  • vesicle transportering other cell types
  • required for the efficient transportation of nascent endocytic vesicles from the actin-rich peripheries of epithelial cells, allowing for timely fusion of endocytic vesicles with the early endosome
  • plays important roles in endocytic and exocytic membrane-trafficking pathways in cells
  • has novel functions in mitosis and it plays an essential role in targeted membrane transport during cytokinesis
  • with PTPRQ form a complex that dynamically maintains the organization of the cell surface coat at the stereocilia base and helps maintain the structure of the overall stereocilia bundle
  • involved in a wide range of endocytic and exocytic membrane trafficking pathways (involvement of myosin VI in this pathway
  • essential roles at the inner hair cells ribbon synapse, in addition to that proposed in membrane turnover and anchoring at the apical surface of the hair cells
  • actin-based molecular motor involved in clathrin-mediated endocytosis
  • plays potentially a key role in endocytosis-mediated protein absorption in the kidney proximal tubule
  • role for myosin VI and optineurin in regulation of fusion pores formed between secretory vesicles and the plasma membrane during the final stages of secretion
  • involved in the regulated trafficking of NHE3 and SLC34A2 between the brush border membrane and endosome (
  • CELLULAR PROCESS nucleotide
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • actin
  • TAX1BP1 binding partner (myosin VI-TAX1BP1 interactions may link membrane trafficking pathways with cell adhesion and cytokine-dependent cell signalling)
  • interacting with MYO6 (otoferlin and myosin VI are likely to control the topographical development of inner hair cells active zones by appropriate targeting of intracellular compartments to the basolateral inner hair cells membrane)
  • MYO6 and DOCK7 colocalized in interphase and dividing cells and interacted (this interaction may help explain a mechanism for MYO6-dependent regulation of actin cytoskeleton organization)
  • GIPC1 is a new interactor for VANGL2, and MYO6-GIPC1 protein complex can regulate VANGL2 traffic in heterologous cells
  • MYO6 functions in endocytosis in conjunction with binding partners including adaptor protein (TFAP2A, DAB2, and GIPC1)
  • MYO6 is required for basal and stimulated endocytosis of SLC9A3 in intestinal cells, suggesting that MYO6 also moves SLC9A3 down the microvillus
  • TRIP6-GRIP1-MYO6 interaction and its regulation on F-actin network play a significant role in dendritic morphogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA22 , DFNB37 , FHCD
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    responsible for deafness in Snell waltzer mice