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FLASH GENE
Symbol FMNL1 contributors: mct - updated : 28-02-2014
HGNC name formin-like
HGNC id 1212
Location 17q21.31      Physical location : 43.299.291 - 43.324.681
Synonym name
  • chromosome 17 open reading frame 1
  • formin-like
  • leukocyte formin
  • CLL-associated antigen KW-13
  • Synonym symbol(s) FMNL, FHOD4, KW-13, C17orf1, MGC1894, C17orf1B, MGC21878, MGC133052, FRL1
    DNA
    TYPE functioning gene
    STRUCTURE 25.41 kb     27 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map see DDPAC
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3973 - 1100 - 2003 12684686
    - - - - 1114 - 2003 12684686
    - - - - - specifically located at the cell membrane and cortex in diverse cell lines 2009 19815554
  • with an intron retention at the C terminus affecting the diaphanous autoinhibitory domain (DAD)
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
     spleen    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    Lymphoid/Immunenatural killer
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • FH1-FH2 domains lacking activity to stimulate potent filopodia assembly, despite possessing similar biochemical activities and being highly homologous to FMNL3
  • HOMOLOGY
    interspecies homolog to Drosophila diaphanous protein
    homolog to murine Fmnl
    Homologene
    FAMILY
  • formin family of actin nucleators
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • localizes to the actin-rich cores of primary macrophage podosomes (pMID: 20617518)
  • basic FUNCTION
  • playing a role in the control of reorganization of the actin cytoskeleton in association with RAC and in the regulation of the signal for cell survival
  • DIAPH2 and FMNL1 mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
  • is potentially responsible for modifying actin at the macrophage podosome and may be involved in actin cytoskeleton dynamics during adhesion and migration within tissues
  • regulates cellular F-actin levels required to maintain structural integrity of the Golgi complex and lysosomes
  • DIAPH1 and FMNL1 have been implicated in centrosome reorientation to the immunological synapse of T lymphocytes
  • DIAPH1 and FMNL1 are novel regulators of spirochete uptake by human immune cells
  • stimulates leukemia cell proliferation as well as migration, and potentially contributes to leukemogenesis and could act in part through RAC1 regulation
  • upon TCR triggering the INF2 formin, together with the formins DIAPH1 and FMNL1, promotes the formation of a specialized array of stable detyrosinated MT that breaks the symmetrical organization of the T-cell microtubule (MT) cytoskeleton
  • DIAPH2, DAAM1, FMNL1, and FMNL2 were found to be required for myofibrillogenesis, non-redundantly
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with AKT1
  • after RAC1-dependent activation of FMNL1, SRGAP2 mediates a potent mechanism to limit the duration of RAC1 action and inhibit formin activity during rapid actin dynamics
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lymphoid malignancies, chronic lymphocytic leukemia
    tumoral     --over  
    in Burkitt lymphoma, pancreatic cancer, prostate cancer, and lung large cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS