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FLASH GENE
Symbol MYO7A contributors: shn - updated : 21-06-2016
HGNC name myosin VIIA
HGNC id 7606
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal motor head domain containing ATP and actin-binding sites
  • a neck containing five IQ calmodulin or calmodulin-like light chain binding domains
  • a tail containing a coiled-coil region, two myosin IV like
  • two C terminal talin-like domains (FERM, EPB41-ezrin-radixin-moesin), involved in the linkage of cytoplasmic proteins to the membrane, FERM domain binding to a novel transmembrane protein VEZT
  • a putative SH3 domain
    • HOMOLOGY
    interspecies ortholog to Myo7a, Mus musculus
    ortholog to drosophila Crickled
    ortholog to Myo7a, Rattus norvegicus
    ortholog to myo7a, Danio rerio
    ortholog to MYO7A, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • Myosin VIIa and USH1G localization at stereocilia upper tip-link density
    • basic FUNCTION
  • might play a role in the trafficking of ribbon-synaptic vesicle complexes and the renewal processes of the outer photoreceptor disks
  • mediating the transport of membrane cargo along actin filaments in the membrane of photoreceptor cilia
  • putative protein kinase A (PRKAR1A)-anchoring protein that targets PRKA to subcellular sites of sensory cells
  • can have a dual function in the connecting cilium : after the fusion of membranous vesicles with the apical surface of the inner segment discussed above, the membrane incorporated cargo translocates in the ciliary membrane to the outer segment
  • anchored by vezatin to the cadherin-catenins complex, creates a tension force between adherens junctions and the actin cytoskeleton that is expected to strengthen cell-cell adhesion
  • opsin transport through the photoreceptor cilium
  • RAB27A, MYRIP and MYO7A bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles
  • essential to ensure the cohesion of the stereocilia
  • required for the normal processing of ingested disk membranes in the RPE, primarily in the basal transport of phagosomes into the cell body where they then fuse with lysosomes
  • required for the normal transport of opsin through the ciliary plasma membrane to the outer segment, and, in the RPE, it functions in the movement of melanosomes and phagosomes
  • required for hair bundle growth
  • plays a role in the positioning of melanosomes and other digestion organelles in the retinal pigment epithelium
  • role for MYO7A in the translocation of RPE65, illustrating the involvement of a molecular motor in the spatiotemporal organization of the retinoid cycle in vision
  • functions by mediating light-dependent translocation of RPE65
  • MYO7A, USH1G, and USH1C form the core components of the stereocilia upper tip-link density molecular complex
  • MYO7A functions as a selective barrier for membrane proteins at the distal end of the transition zone
  • USH1G, MYO7A, USH1C, CDH23, PCDH15 form an adhesion belt around the basolateral region of the photoreceptor outer segment, and defects in this structure cause the retinal degeneration in USH1 patients
  • can likely transport its cargo molecules, such as USH1 proteins, upon release of the tail-dependent inhibition
  • MYO7A regulate caspases in their signalling roles
  • MYO7A movement appears to be suitable for translocating USH1 proteins on stereocilia actin bundles in inner-ear hair cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • with harmonin (USH1C) and CDH23 can form a ternary complex, which suggests that myosin VIIa applies tension forces on hair bundle links
  • MYO7A, USH1G, and the upper tip-link density protein USH1C form a tripartite complex and that each protein is capable of interacting with one another independently
  • MYO7A forms a complex with PDZD7, a paralog of USH1C and WHRN
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • adherens junctions transmembrane protein vezatin, VEZT
  • type I alpha regulatory subunit (RI alpha) of protein kinase A, PRKAR1A
  • calmodulin, CaM and microtubule-associated protein-2B, MAP-2B
  • associated with specialized adhesion plaques termed ectoplasmic specializations (ES) that form between Sertoli cells and germ cells in testis
  • synaptotagmin-like protein homologue lacking C2 domains-c, Slac2-c
  • myosin VIIA and Rab interacting protein, MYRIP
  • kelch-like ECH-associated protein 1, KEAP1
  • harmonin b
  • MYRIP mediates cellular activation of MYO5A and MYO7A via non-overlapping domains
  • with harmonin and CDH23 bind to phosphorylated forms of phosphatidylinositol including phosphatidylinositol 4,5-bisphosphate
  • whirlin, WHRN (
  • associated with cathepsin D- and Rab7-positive lysosomes
  • MYO7A and RPE65 appear to be associated with each other, suggesting that MYO7A functions in the localization of the visual cycle enzyme
  • CNGA3 interacts with stereocilia tip-link CDH23 + exon 68 or alternatively with MYO7A, two proteins required for hair cell mechanotransduction
  • MYO7A interacts with ITGB5 and selectively promotes integrin ITGAB5-mediated cell migration
  • MYRIP accumulates granules in the cortical F-actin network not by direct interaction with MYO5A, but by indirect interaction with a specific form of MYO7A through its previously unknown binding partner, RIMBP2 (28673385)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB2 , USH1B , DFNA11
    related resource Hereditary Hearing Loss Homepage
    Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target shaker1 RPE in preclinical studies on therapies for Usher syndrome 1B do not undergo retinal degeneration and may be a valid preclinical test for potential therapeutic treatments
    ANIMAL & CELL MODELS
  • Myo7a mutant mice (shaker1) show hyperactivity, head-tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti
  • shaker-1 mice display defective melanosome distribution in the retinal pigment epithelium
  • zebrafish defective in myosin VIIA (circler mutant mariner) display morphological and functional defects that are similar to those present in mouse shaker-1: defects specific to sensory hair cell function
  • Myo7a null mice display abnormal phagocytosis of photoreceptor outer segment disks by the retinal pigment epithelium (RPE)