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FLASH GENE
Symbol MYO1E contributors: mct - updated : 26-08-2015
HGNC name myosin IE
HGNC id 7599
Corresponding disease
FSGS6 glomerulosclerosis, focal segmental, 6
Location 15q22.2      Physical location : 59.428.563 - 59.665.071
Synonym name
  • myosin-Ic
  • Synonym symbol(s) MYO1C, HuncM-IC
    DNA
    TYPE functioning gene
    STRUCTURE 236.51 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ12994 15q21.2 hypothetical protein FLJ12994 LOC390586 15 similar to L-3-hydroxyacyl-CoA dehydrogenase LOC161577 15q21.2 LOC161577 protein MNS1 15q21.2 meiosis-specific nuclear structural protein 1 FLJ20086 15q21.2 hypothetical protein FLJ20086 LOC145783 15q21.2 hypothetical protein LOC145783 TCF12 15q21 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) LOC388124 15 LOC388124 FLJ14957 15q21.2 hypothetical protein FLJ14957 FLJ30973 15q21.2 hypothetical protein FLJ30973 GRINL1A 15q22.1 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A ALDH1A2 15q21.2 aldehyde dehydrogenase 1 family, member A2 AQP9 15q22.1-q22.2 aquaporin 9 LOC145780 15q21.2 hypothetical LOC145780 LIPC 15q21-q22.2 lipase, hepatic ADAM10 15q22 a disintegrin and metalloproteinase domain 10 KIAA1164 15q21.3 hypothetical protein KIAA1164 LOC390587 15 similar to zinc finger protein 444; endothelial zinc finger protein 2 FLJ13213 15q21.3 hypothetical protein FLJ13213 RNF111 15q21 ring finger protein 111 CCNB2 15q21.3 cyclin B2 MYO1E 15q21-q22 myosin IE LDHL 15q21.3 lactate dehydrogenase A -like LOC390588 15 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29) MGC26690 15q21.3 hypothetical protein MGC26690 GCNT3 15q21.3 glucosaminyl (N-acetyl) transferase 3, mucin type GTF2A2 15q21.2 general transcription factor IIA, 2, 12kDa BNIP2 15q11.2 BCL2/adenovirus E1B 19kDa interacting protein 2 LOC145767 LOC390589 15 similar to ATP-dependent RNA helicase DDX18 (DEAD-box protein 18) (Myc-regulated DEAD-box protein) (MrDb) FOXB1 15q21-q26 forkhead box B1 ANXA2 15q21-q22 annexin A2 NARG2 15q21.3 NMDA receptor-regulated gene 2 RORA 15q21-q22 RAR-related orphan receptor A HCP38 15q21.3 cytochrome c, somatic pseudogene LOC390590 15 similar to RAR-related orphan receptor A isoform a; RAR-related orphan receptor alpha; retinoic acid receptor-related orphan receptor alpha; transcription factor RZR-alpha; ROR-alpha FLJ20136 LOC145741 15q21.3 hypothetical LOC145741 LOC390591 15 similar to nucleophosmin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4729 - 1108 - 2007 17257598
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Lymphoid/Immunelymph node   highly
     tonsils   moderately
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  moderately
    Urinarykidneynephronrenal capsuleglomerulushighly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    Muscular   moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    Urinarypodocyte Homo sapiens
    cell lineage in B-cell lines (
    cell lines
    fluid/secretion predominantly in lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N terminal motor domain containing ATP and actin-binding sites
  • a neck containing one IQ calmodulin or calmodulin-like light chain binding domain
  • an SH3 domain of MYO1E tail interacting with TJP1, a component of the slit diaphragm complex and tight junctions, suggesting that MYO1E represents a component of the slit diaphragm complex and may contribute to regulating junctional integrity in kidney podocytes
  • two Tail Homology domains, TH2 domain providing the key signal for localization to invadosomes, while TH1 domain interactions facilitate MYO1E targeting to the plasma membrane-proximal locations within the rosettes
  • C-terminal tail domain includes a basic region required for localization to clathrin-coated vesicles and contains a putative pleckstrin-homology (PH) domain that has been shown to play a role in phospholipid binding in other myosin-I proteins
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to rattus Myo1e (95.8 pc)
    homolog to murine Myo1e (96.2 pc)
    Homologene
    FAMILY
  • subclass-1 member of the myosin-I family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    text
  • co-localizes with clathrin- and dynamin-containing puncta at the plasma membrane and this co-localization requires an intact SH3 domain
  • basic FUNCTION
  • acting as a microfilament motor
  • involved in rapid sliding
  • may contribute to receptor-mediated endocytosis
  • potentially playing an important role in cortical granule exocytosis
  • may be playing an important role in podocyte function and normal glomerular filtration
  • anchored by lipid interactions, could concentrate MYO1E-binding proteins, such as dynamin and synaptojanin-1, at actin-rich regions of the membrane
  • coordinates actin assembly and cargo trafficking during clathrin-mediated endocytosis
  • actin-dependent molecular motor that plays an important role in kidney functions
  • its expression in podocytes is necessary for normal glomerular filtration and podocyte defects are likely to represent the primary pathway leading to glomerular disease associated with MYO1E mutations
  • actin-based motor protein that has been implicated in cell adhesion and migration
  • may then act as a scaffold, linking the plasma membrane with the actin cytoskeleton and helping direct new invadosome formation to the periphery of the rosette
  • non-redundant function of the motor protein MYO1E in the regulation of TLR4-controlled, cytoskeleton-associated functional properties of macrophages and dendritic cells, and in induction of a full MHC-II-restricted adaptive immune response
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • myosin complex
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • acting
  • calmodulin
  • interact with proteins involved in endocytosis and actin dynamics, including dynamin, synaptojanin, and LRRC16A, presumably via MYO1E SH3 domain
  • interaction with anionic phospholipids
  • binds lipids through nonspecific electrostatic interactions rather than a stereospecific protein-phosphoinositide interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FSGS6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    promotes podocyte injury and results in the loss of the integrity of the glomerular filtration barrier
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    renal tissue from Myo1e-null mice demonstrates changes characteristic of glomerular disease, including a thickened and disorganized glomerular basement membrane and flattened podocyte foot processes