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FLASH GENE
Symbol MYH11 contributors: mct - updated : 17-03-2014
HGNC name myosin, heavy polypeptide 11, smooth muscle
HGNC id 7569
DNA
TYPE functioning gene
STRUCTURE 153.90 kb     42 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
42 - 6921 - 1938 - 2007 17571080
  • SM2A
    • 43 - 6942 - 1945 - 2007 17571080
    SM2B
    41 - 6882 227.3 1972 - 2007 17571080
  • SM1A
    • 42 - 6903 - 1979 - 2007 17571080
    SM1B
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Reproductivefemale systemuterus  highly
     male systemprostate  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • globular head associating to the light chain
  • actin and ATP binding sites
  • a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail
  • a coiled-coil C-terminal domain
    • mono polymer hexamer
    HOMOLOGY
    Homologene
    FAMILY myosin heavy chain family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle
    intracellular,cytoplasm,cytosolic
    text in the melanosome
    basic FUNCTION
  • motor contractile protein moving towards the "plus" end of actin track, smooth muscle myosin
  • involved in muscle contraction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • two heavy chain subunits and two pairs of non-identical light chain subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TAAD1 , AMLM4EO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   inversion    
    acute myeloid leukemia, most commonly of the M4Eo subtype with pericentric inversion inv(16)(p13q22) and other rearrangements of chr 16
    tumoral somatic mutation     gain of function
    involved in intestinal tumorigenesis (mutation may affect the cellular energy balance or disturb cell lineage decisions in tumor progenitor cells)
    constitutional     --low  
    in aortic dissection
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS