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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
Corresponding disease
AMLM4EO acute myelomonocytic leukemia with bone marrow eosinophilia
TAAD1 thoracic aortic aneurysm with aortic dissection 1
Location 16p13.12      Physical location : 15.796.993 - 15.950.887
Synonym name
  • smooth muscle myosin heavy chain 11, isoform SM2
  • myosin heavy chain 11
  • Synonym symbol(s) SMHC, SMMHC, AAT4, FAA4, FLJ35232, MGC126726, MGC32963, KIAA0866
    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
    Physical map
    LOC390675 16 similar to TATA element modulatory factor 1 ERCC4 16p13.13 excision repair cross-complementing rodent repair deficiency, complementation group 4 MRTF-B 16p13.13 myocardin-related transcription factor B CGI-148P 16p13 CGI-148 protein pseudogene LOC388214 16 LOC388214 PARN 16p13 poly(A)-specific ribonuclease (deadenylation nuclease) BFAR 16p13.2 bifunctional apoptosis regulator PLA2G10 16p13.1-p12 phospholipase A2, group X PKD1P3 16p13.3 phospholipase A2, group X NPIP 16q13.1 nuclear pore complex interacting protein LOC123803 RRN3 16p12 RNA polymerase I transcription factor RRN3 PKD1P6 16p13.3 RNA polymerase I transcription factor RRN3 LOC388215 16 similar to hypothetical protein LOC339047 FLJ39599 16p13.13 hypothetical protein FLJ39599 BC008967 16p13.13 hypothetical gene BC008967 LOC388216 16 LOC388216 LKAP 16p13.13 limkain b1 NDE1 16p13.11 nudE nuclear distribution gene E homolog 1 (A. nidulans) MYH11 16p13.12 myosin, heavy polypeptide 11, smooth muscle FLJ31153 16p13.13-p13.12 hypothetical protein FLJ31153 LOC390676 16 similar to 60S ribosomal protein L15 ABCC1 16p13.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 ABCC6 16p13.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 LOC339041 16p13.12 hypothetical LOC339041 PKD1P1 16p13.3 hypothetical LOC339041 PKD1P2 16p13.3 hypothetical LOC339041 LOC390677 16 similar to hypothetical protein FLJ21415 XYLT1 16p13.1-p12 xylosyltransferase I LOC146110 16p13.12 similar to 60S ribosomal protein L7 LOC390678 16 similar to Group X secretory phospholipase A2 precursor (Phosphatidylcholine 2-acylhydrolase GX) (GX sPLA2) (sPLA2-X)
    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