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FLASH GENE
Symbol PLS3 contributors: mct/npt - updated : 12-10-2016
HGNC name plastin 3 (T isoform)
HGNC id 9091
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal 570 AA of the T-plastin
  • L-plastin contains a potential calcium-binding site near the N terminus
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • PLS3 and CORO1C are strongly enriched in lamellipodia structures at growing edges under the plasma membrane
  • basic FUNCTION
  • playing an important role for axonogenesis through increasing the F-actin level
  • playing a role during neuronal differentiation
  • PLS3 gene may have an age- and gender-specific role in the clinical severity of SMA in children afflicted with this condition
  • is an actin-binding/bundling protein, with a role in Ca(2+) regulation that is essential for the function of PLS3 in motor axons
  • is a protein involved in actin bundle formation in the cytoskeleton
  • is a genuine SMA protective modifier
  • PLS3 is a modifier of SMA in motor-neurons (MN)
  • in SMA, PLS3 and CORO1C but not TMOD3 play an important role in endocytosis by restoring F-actin-dependent processes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • two actin-related binding partners of PLS3, are CORO1C, and TMOD3
  • NCALD acts as a negative regulator of endocytosis, which is in contrast to PLS3 acting as its positive regulator
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRDO , COPO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    rescued the axon length and outgrowth defects associated with SMN down-regulation in motor neurons
    constitutional     --over  
    in actively dividing cells and up-regulated in several carcinomas
    constitutional     --over  
    hypomethylation is associated with overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome
    constitutional     --low  
    contributes to SMA motor phenotypes
    Susceptibility
    Variant & Polymorphism
    Candidate gene useful molecular marker for predicting the responsiveness of cancer cells to treatment with chemotherapeutic drugs
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    power of PLS3 and CORO1C modidfiers to unravel the cellular pathomechanisms underlying SMA and the power of combinatorial therapy based on splice correction of SMN2 and endocytosis improvement to efficiently treat SMA
    ANIMAL & CELL MODELS
  • endocytosis is disturbed in the NMJ of SMA mice and this disturbance is counteracted by Pls3 overexpression