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FLASH GENE
Symbol PDLIM5 contributors: mct - updated : 28-06-2016
HGNC name PDZ and LIM domain 5
HGNC id 17468
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