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FLASH GENE
Symbol PCP4 contributors: mct - updated : 02-09-2014
HGNC name Purkinje cell protein 4
HGNC id 8742
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an IQ motif (intrinsically disordered protein, but with residual structure localized to its acidic/IQ motif) , having the potential to modulate the rate-limiting kinetics of Ca2+ binding to CALM1
    • HOMOLOGY
    interspecies homolog to rattus Pep-19 neuron-specific polypeptide
    intraspecies homolog to S100 calcium binding proteins
    Homologene
    FAMILY
  • calmodulin (CaM)-binding proteins family
  • PCP4 family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • involved in the development of the central nervous system
  • may play a role in the pathophysiology of Alzheimer disease and Huntington disease through a mechanism of calcium/calmodulin disregulation
  • has the potential to alter the Ca2+-binding dynamics of free CALM1 and CALM1 that is bound to other target proteins
  • with NRGN, small IQ-motif calmodulin (CALM1)-binding proteins originally identified in the central nervous system
  • can bind to either apo- or Ca2+-CALM1, and can modulate Ca2+ binding to the C-domain of CALM1
  • neurospecific, small calmodulin-binding protein that binds both calcium-free and calcium-binding calmodulin to regulate the calmodulin-mediated signal
  • promotes neuroendocrine cell differentiation and neurotransmitter release by activating calmodulin function
  • modulates the kinetics of Ca2+ binding to CALM1, and regulating ligand-induced Ca2+ release gives PCP4 the potential to broadly affect cell signaling
  • is a modulator of Ca(2+)-Calmodulin signaling
  • contributes significantly to the development of Down syndrome phenotypes through molecular and functional changes
  • is a regulator of aldosterone production in normal, hyperplastic, and neoplastic human adrenocortical cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a small protein with the potential to broadly affect CALM1 signaling by binding to apo- or Ca2+-CALM1 via its IQ motif
  • HOXA2 binds to PCP4 chromatin and regulates PCP4 expression in the second arch
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cerebellum in Alzheimer and Huntington disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS