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FLASH GENE
Symbol MYL9 contributors: mct/npt/pgu - updated : 24-06-2009
HGNC name myosin, light chain 9, regulatory
HGNC id 15754
DNA
TYPE functioning gene
STRUCTURE 8.33 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1212 19.7 172 - 2001 11780052
3 - 1044 13.7 118 - 2001 11780052
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Reproductivemale systemprostate  highly
Visualeyeuvea   
 eyelacrimal gland   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Connectivecartilage   
Epithelialsecretoryglandular  
Epithelialsensoryvisual  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer hexamer
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory , structural protein
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • may be regulating ATPase activity of myosin heads
  • playing an important role in regulation of both smooth muscle and nonmuscle cell contractile activity
  • required for invasion and lung colonization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with PNKD
  • transcriptional target of RUNX1, providing a mechanism for decreased platelet MYL9 expression, myosin light chainphosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations
  • cell & other
    REGULATION
    Other its phosphorylation is involved in uterine contractions (are mainly regulated by phosphorylation of MYL9 by Ca2+/calmodulin-dependent myosin light chain kinase)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in thrombocytopenia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS