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FLASH GENE
Symbol MYO7A contributors: shn - updated : 21-06-2016
HGNC name myosin VIIA
HGNC id 7606
Corresponding disease
DFNA11 neurosensory deafness 11
DFNB2 neurosensory deafness 2
USH1B Usher syndrome, type IB
Location 11q13.5      Physical location : 76.839.309 - 76.926.286
Synonym name myosin VIIA, unconventional, apparently non filamentous
Synonym symbol(s) USH1B, DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, HM7A
DNA
TYPE functioning gene
STRUCTURE 86.00 kb     49 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D11S1321 - D11S4179 - MYO7A - D11S4186 - D11S1789 - qter
Physical map
RPS3 11q13.3-q13.5 ribosomal protein S3 FLJ33790 11q13.3 hypothetical protein FLJ33790 PP1665 11q13.3 hypothetical protein PP1665 SERPINH1 11q13.5 serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) MAP6 6p12-p11 microtubule-associated protein 6 MGAT2 14q21 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase DGAT2 11q13.3 diacylglycerol O-acyltransferase homolog 2 (mouse) UVRAG 11q13 UV radiation resistance associated gene WNT11 11q13.5 wingless-type MMTV integration site family, member 11 PRKRIR 11q13.5 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) LOC387790 11 LOC387790 C11orf30 11q13.5 chromosome 11 open reading frame 30 GARP 11q13.5-q14 glycoprotein A repetitions predominant LOC390226 11 similar to Olfactory guanylyl cyclase GC-D precursor (Guanylate cyclase, olfactory) E2IG4 11q13.3 hypothetical protein, estradiol-induced PHCA 11q13.4 phytoceramidase, alkaline IMAGE:4907098 11q13.4 beta-1,3-N-acetylglucosaminyltransferase protein CAPN5 11q14 calpain 5 OMP 11q13 olfactory marker protein MYO7A 11q13.5 myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) LOC220032 11q13.4 GDPD domain containing protein LOC387791 11 similar to Mitochondrial import receptor subunit TOM20 homolog (Mitochondrial 20 kDa outer membrane protein) (Outer mitochondrial membrane receptor Tom20) PAK1 11q13.5-q14.1 p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) LOC387792 11 LOC387792 AQP11 11q13.4 aquaporin 11 CLNS1A 11q13.5-q14.1 chloride channel, nucleotide-sensitive, 1A HBXAP 11q13.4-q14.1 hepatitis B virus x associated protein PTD015 11q13.4 PTD015 protein MGC16733 11q13.4 hypothetical gene MGC16733 similar to CG12113 KCTD14 11q13.4 potassium channel tetramerisation domain containing 14 THRSP 11q13.5 thyroid hormone responsive (SPOT14 homolog, rat) NDUFC2 11q12.1-q13.14 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa ALG8 11pter-p15.5 asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase) LOC387793 11 hypothetical gene supported by BC062331 LOC387794 11 similar to ubiquitin specific protease 38; HP43.8KD protein USP35 11q13.4 ubiquitin specific protease 35 GAB2 11q13.4-q13.5 GRB2-associated binding protein 2 FLJ23441 11q13.4 hypothetical protein FLJ23441 ODZ4 11q13.4 odd Oz/ten-m homolog 4
RNA
TRANSCRIPTS type messenger
text a strong enhancer in the intron 1 is sufficient to target the expression of MYO7A gene exclusively in sensory cells of the inner ear
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
49 splicing 7465 - 2215 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 1
27 splicing 4079 - 1178 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 3
49 splicing 7339 - 2175 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 2
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
Nervousnerve   highly
Reproductivefemale systemplacenta  highly
 male systemtestis    Homo sapiens
Respiratorylung     Homo sapiens
Urinarykidney     Homo sapiens
Visualeyeretina  highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiens
Epithelialsensoryvisual  
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell Homo sapiens
Hearing / Equilibriumhair cell receptor Homo sapiens
Hearing / Equilibriumstereocilia Homo sapiens
Visualcone photoreceptor Homo sapiens
cell lineage
cell lines primary cultures of human and mouse RPE
fluid/secretion
at STAGE
physiological period embryo
Text developing sensory epithelia, cochlear and vestibular neuroepithelia, retinal pigment epithelium and photoreceptor cells
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)