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FLASH GENE
Symbol FMN1 contributors: mct/npt - updated : 02-06-2021
HGNC name formin (limb deformity)
HGNC id 3768
Location 15q13.3      Physical location : 33.057.746 - 33.360.085
Synonym name
  • limb deformity protein
  • formin 1
    • Synonym symbol(s) LD, FLJ45135, FMN, DKFZP686C2281, MGC125288, MGC125289, DKFZp686G2387
    DNA
    TYPE functioning gene
    STRUCTURE 429.22 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text with several alternatively spliced isoforms in mouse - Wang
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 12647 - 1196 - 2018 29668357
    26 - 13511 - 1419 - 2018 29668357
    5 - 3948 - 662 - 2018 29668357
    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