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FLASH GENE
Symbol FMN1 contributors: mct/npt - updated : 02-06-2021
HGNC name formin (limb deformity)
HGNC id 3768
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 intestinesmall intestine   
Skin/Tegumentskin    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text various tissues
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a characteristic domain (formin homology domain, FH1 and FH2)
  • FMH1 domain (codon 1-120 of FMN1)
  • FMH2 domain (codon 683-835 of FMN1)
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine formin limb deformity gene
    Homologene
    FAMILY
  • formin homology family
  • cappuccino subfamily
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • plays a key role in limb morphogenesis
  • intracellular actin nucleator implicated in limb development (Zhou 2009)
  • may be playing a role in repression of BMP signaling (Zhou 2009)
  • affects limb development in two ways, first, it harbors a control element that regulates the transcription of the GREM1 and second, because it codes for the cytoplasmic protein FMN1, which plays a role in the repression of BMP signaling (Zhou 2009)
  • with DIAPH3 can help F-actin form highly elastic networks and mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
  • involvement of FMN1 in dendritogenesis and synaptogenesis,indicating that this protein is a key component of the NGN3 signaling pathway that controls neuronal differentiation
  • is an actin-nucleating protein, implicated in actin assembly and intracellular signaling
  • RHOA works in concert with FMN1 to control assembly of the specialized apical actin network in multiciliated epithelial cells (MCCs)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with Profilin, SRC, EMS1, FNBP1, FNBP2, FNBP3, FNBP4, WBP4 and alpha-catenin
  • FLNB and FMN1 physically interact, are co-expressed in chondrocytes in the growth plate and share overlapping expression in the cell cytoplasm and nucleus
  • FLNB and FMN1 regulate chondrocyte proliferation, and FLNB may regulate FMN1 function at the hypertrophic-to-ossification border, thereby explaining the overall delay in ossification
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse mutations in Fmn1 cause aberrant fusion of carpal digits