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FLASH GENE
Symbol PCP4 contributors: mct - updated : 02-09-2014
HGNC name Purkinje cell protein 4
HGNC id 8742
Location 21q22.2      Physical location : 41.239.346 - 41.301.320
Synonym name
  • brain-specific polypeptide PEP-19
  • brain-specific antigen PCP-4
  • Synonym symbol(s) PEP19, PEP-19
    DNA
    TYPE functioning gene
    STRUCTURE 61.98 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 566 6.7 62 - 1998 9697113
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland     Homo sapiens
     thyroid     Homo sapiens
    Nervousbrainforebraincerebral cortex   Other species
     brainbasal nucleicaudate nucleus   Homo sapiens
     brainbasal nucleiputamen highly Homo sapiens
     brainlimbic systemhippocampus   Other species
    Reproductivefemale systemuterus    Homo sapiens
     male systemprostate    Homo sapiens
    Urinarybladder     Homo sapiens
     kidney     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Other speciesAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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