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FLASH GENE
Symbol PLS3 contributors: mct/npt - updated : 12-10-2016
HGNC name plastin 3 (T isoform)
HGNC id 9091
Corresponding disease
COPO childhood-onset primary osteoporosis
MRDO mental retardation, deafness, and osteoporosis
Location Xq23      Physical location : 114.795.176 - 114.885.177
Synonym name
  • T-fimbrin
  • T-plastin
  • Synonym symbol(s) BMND18, T-plastin
    DNA
    TYPE functioning gene
    STRUCTURE 90.01 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389881 X similar to hypothetical protein FLJ13646 LOC340595 Xq23 similar to zinc finger, CCHC domain containing 5 LHFPL1 Xq23 lipoma HMGIC fusion partner-like 1 LOC203510 Xq23 similar to high mobility group protein homolog HMG4 AMOT Xq23 angiomotin LOC139466 Xq23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC286528 Xq24 similar to HSPC182 protein HTR2C Xq24 5-hydroxytryptamine (serotonin) receptor 2C IL13RA2 Xq24 interleukin 13 receptor, alpha 2 LOC392524 X similar to YAP1 protein KIAA1495 Xq24 KIAA1495 protein TMSL7 X thymosin-like 7 FLJ40249 Xq24 hypothetical protein FLJ40249 HOM-TES-85 Xq24 HOM-TES-85 tumor antigen PLS3 Xq24 plastin 3 (T isoform) ASSP5 Xq22-q26 argininosuccinate synthetase pseudogene 5 LOC136337 Xq24 similar to elongation factor 1 gamma LOC222019 Xq24 hypothetical gene supported by BC022340; L76416 LOC392525 X similar to Aldo-keto reductase family 1, member B1 LOC286533 Xq24 similar to apoptosis inhibitor 5; fibroblast growth factor 2-interacting factor 2; API5-like 1 AGTR2 Xq22-q23 angiotensin II receptor, type 2 SLC6A14 Xq23-q24 solute carrier family 6 (neurotransmitter transporter), member 14 LOC203413 Xq24 hypothetical LOC203413 LOC392526 X similar to Serine/threonine-protein kinase PRP4 homolog (PRP4 pre-mRNA processing factor 4 homolog) (Pre-mRNA protein kinase) LOC392527 X similar to protein phosphatase 2A inhibitor-2 I-2PP2A KIAA1309 Xq23-q24 KIAA1309 LOC392528 X similar to beta-tubulin 1 DKFZp686L20145 Xq24 similar to rab11-binding protein LOC389882 X LOC389882 DOCK11 Xq24 dedicator of cytokinesis 11 IL13RA1 Xq22-q26 interleukin 13 receptor, alpha 1 LOC170261 Xq24 hypothetical protein LOC170261 LOC159007 Xq24 similar to Aflatoxin B1 aldehyde reductase member 2 (AFB1-AR 1) (Aldoketoreductase 7) LOC392529 X hypothetical gene supported by NM_015198 RNF127 Xq24 ring finger protein 127 KIAA1210 Xq24 KIAA1210 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3626 - 630 - 2008 18440926
    18 - 3772 - 617 - 2008 18440926
    17 - 3723 - 585 - 2008 18440926
    16 - 3341 - 630 - 2008 18440926
    - - 3250 - 603 - 2008 18440926
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouth   highly
    Lymphoid/Immunespleen   highly
    Nervousspinal cord   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text highly expressed in the fetal spinal cord
    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