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FLASH GENE
Symbol PRICKLE1 contributors: mct/npt/shn - updated : 17-02-2014
HGNC name prickle homolog 1 (Drosophila)
HGNC id 17019
Corresponding disease
EPM1B myoclonus epilepsy progressive 1B
Location 12q12      Physical location : 42.852.140 - 42.983.572
Synonym name
  • prickle-like 1 (Drosophila)
  • REST/NRSF-interacting LIM domain protein 1
  • REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive
  • silencer factor)-interacting LIM domain protein
    Synonym symbol(s) FLJ31627, FLJ31937, RILP, MGC138902, MGC138903, EPM1B
    DNA
    TYPE functioning gene
    STRUCTURE 131.43 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1592 - D12S1653 - PRICKLE1 - D12S1301 - D12S1663 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 4321 94 831 - 2008 18976727
    8 splicing 4250 - 831 - 2008 18976727
    8 splicing 4253 - 831 - 2008 18976727
    8 splicing 4254 - 831 expressed in brain regions implicated in epilepsy and ataxia 2008 18976727
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousnerve   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    Visualeyeretina  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Visualamacrine cell Homo sapiens
    cell lineage
    cell lines hematological malignancies cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart, eyes, lens, eye anterior segment, optic nerve, retina, retina foveal and macular, RPE and choroid
    life cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three LIM zinc-binding domains
  • one PET domain
  • C terminal prickle homologous (PKH) domain
  • HOMOLOGY
    interspecies ortholog to Prickle1, Mus musculus
    ortholog to PRICKLE1, Pan troglodytes
    ortholog to Prickle1, Rattus norvegicus
    ortholog to prickle1a, Danio rerio
    intraspecies homolog to PRICKLE2
    Homologene
    FAMILY
  • prickle/espinas/testin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • nuclear membrane
  • with SYN1 co-localize in neurons
  • basic FUNCTION
  • a negative regulator of the Wnt/beta-catenin signaling pathway
  • involved in tissue polarity and planar polarity
  • a putative tumor suppressor in hepatocellular carcinoma
  • implicated in the canonical WNT/beta-catenin pathway
  • implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4
  • PRICKLE1, PRICKLE2 possibly regulate positive neurite formation during brain development
  • PRICKLE1 and PRICKLE2 promote neurite-like process formation of neuroblastoma cells via the DVL1 dependent mechanism
  • function in the noncanonical WNT signaling pathway, which regulates intracellular calcium release and planar cell polarity (PCP)
  • having function in axonal-dendritic development associated with the maturation of CNS neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • part of the noncanonical or planar cell polarity (WNT/PCP) pathway
  • potentially part of the WNT5A/PCP signaling, regulating cell polarity and affecting expression of multiple factors to stunt limb growth through altered patterns of gene expression, including the PCP genes WNT5a and VANGL2
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rab interacting lysosomal protein, RILP (Shimojo et al, 2003)
  • dishevelled 3 dsh homolog (Drosophila) , DVL3 (Chan et al, 2006)
  • MINK1 is a PRICKLE1-associated protein
  • link between MINK1 and the VANGL2-PRICKLE1 complex and importance of PRICKLE1 phosphorylation and endosomal trafficking for its function during WNT-PCP signaling
  • physically interactwith SYN1 via the SYN1 region mutated in ASD and epilepsy
  • cell & other
    REGULATION
    Phosphorylated by MINK1 (MINK1 phosphorylates and regulates its RAB5-dependent endosomal trafficking, a process required for the localized plasma membrane accumulation and function of PRICKLE1)
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM1B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles
    Susceptibility to neural tube defects (NTDs)
    Variant & Polymorphism other
  • could act as a predisposing factor to human NTDs
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with Prickle1 mutations exhibit ASD-like behavior (PMID!