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FLASH GENE
Symbol PDLIM3 contributors: mct - updated : 22-10-2011
HGNC name PDZ and LIM domain 3
HGNC id 20767
DNA
TYPE functioning gene
STRUCTURE 34.90 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text
  • PDLIM3 splicing was regulated during development and in a tissue-specific manner, regulated in a muscle-specific manner (PMID: 21549096)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 2853 - 364 predominantly detected after birth, in muscle (heart and skeletal muscles), predominantly 2011 21549096
  • PDLIM3a
  • exons 5 and 6 inclusion and exon 4 exclusion
  • predominate in non-DM1 muscles
  • 4 splicing 2709 - 316 fetal skeletal muscle isoform, adult brain, and liver 2011 21549096
  • PDLIM3b
  • splicing is abnormal in patients with DM1 (isoform increased in DM1 muscles)
  • exon 4 inclusion and exons 5 and 6 exclusion
  • it is possible that the PDLIM3b proteins are unable to bind sufficiently to ACTN2, resulting in the symptoms of DM1 muscle
  • 4 splicing - - 276 predominantly detected after birth, in muscle (heart and skeletal muscles), predominantly 2011 21549096
  • predominate in non-DM1 muscles
  • exon 5 inclusion and exons 4 and 6 exclusion
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   highly
     stomach    
    Lymphoid/Immunespleen    
    Reproductivemale systemtestis  lowly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal predominantly Homo sapiens
    Muscularstriatumcardiac predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one LIM zinc-binding domain
  • one PDZ/DHR domain
  • a ZASP-like motif, between PDZ and LIM domains, required for the interaction of PDLIM3 internal region with the alpha-actinin rod and for targeting to the Z-line
  • HOMOLOGY
    interspecies ortholog to rattus pdlim3
    ortholog to murine Pdlim3
    Homologene
    FAMILY ALP subfamily of PDZ-LIM proteins
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • may be acting as an adapter that brings other proteins to the cytoskeleton
  • critical role on muscle differentiation, likely via cytoskeletal regulation of SRF
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • binds ACTN2 in the Z-discs of muscle, and the ZASP-like motif is needed for this interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gastric cancer
    constitutional germinal mutation      
    abnormal PDLIM3 splicing affects the heart more than the skeletal muscles in patients with DM1
    Susceptibility to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PDLIM3-/- mice develop cardiomyopathy that resembles human arrhythmogenic right ventricular cardiomyopathy (ARVD/C) with mild left ventricular involvement