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FLASH GENE
Symbol PDLIM5 contributors: mct - updated : 28-06-2016
HGNC name PDZ and LIM domain 5
HGNC id 17468
DNA
TYPE functioning gene
STRUCTURE 216.37 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 6132 63.4 596 only ENH1 transcript was significant in the brain, and gradually reduced during postnatal heart development 2012 22497889
  • PDLIM5 Ia, or ENH1
  • overexpression of ENH1 in neonatal myocytes results in hypertrophy
  • the region including the three LIM domains of ENH1 (residues 415-591) appears to be sufficient for this PRKCB activation
  • 13 - 5805 - 487 - 2012 22497889
    PDLIM5 Ib
    12 - 5713 36 271 - 2012 22497889
    PDLIM5 Ic, ENH2
    9 - 2131 26.3 234 predominant in cardiac and skeletal muscles in adult, and expression of ENH3 transcript was significant at birth and doubled in the late postnatal days 2012 22497889
    PDLIM5 Id, ENH3
    10 - 1971 24.5 214 present only in skeletal muscle and specific distribution of ENH members between skeletal and cardiac muscles, predominant in cardiac and skeletal muscles in adult, its level was below the detection limitation at the birth and in the early postnatal days, but became significant at the late postnatal days 2012 22497889
  • ENH4, lacking the C-terminal LIM domains present in ENH1 but containing the N-terminal PDZ domain
  • co-localize in the sarcomeric Z-band and interact with alpha-actinin like the other members of the ENH family
  • 17 - 6219 - 625 - 2012 22497889
    15 - 3834 - 483 - 2012 22497889
    12 - 5980 - 474 - 2012 22497889
    3 - 1223 - 136 - 2012 22497889
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 100-amino acid PDZ domain in the N terminus
  • 3 LIM domains in the C terminus, which bind to the helix-loop-helix domain of ID proteins
  • HOMOLOGY
    Homologene
    FAMILY ENIGMA protein family
    CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis
  • actin-associated protein acting as a cytoplasmic retention factor for ID2
  • contributing to differentiation of the nervous system through cytoplasmic sequestration of ID2 and acting as a restraining factor of the oncogenic activity of ID proteins in neural tumors
  • plays an important role in linking protein kinase C with calcium channel
  • acts as a scaffold to tether various functional proteins at subcellular sites via PDZ and three LIM domains
  • LDB3 and PDLIM5 redundantly play an essential role in sustaining Z-line structure from the earliest stages of cardiac function, and are redundantly required to maintain normal embryonic heart function and embryonic viability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting specifically with protein kinase C-epsilon (PRKCE) and the C terminus of the N-type calcium channel alpha-1B subunit (CACNA1B) to form a macromolecular complex
  • interacting with ID proteins
  • PDLIM5 could selectively recruit PRKCE to its specific substrate in neurons
  • cell & other
    REGULATION
    Phosphorylated by PRKAA1 and its phosphorylation on Ser177 by PRKAA1 mediates inhibition of cell migration by suppressing the RAC1-Arp2/3 signalling pathway
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    during neural differentiation
    Susceptibility to bipolar disorder, and schizophrenia
    Variant & Polymorphism SNP nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS