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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
    Physical map
    LOC144245 12q12 similar to alpha2-glucosyltransferase CPNE8 12q12 copine VIII LOC121216 12q12 similar to Sucrase-isomaltase, intestinal KIF21A 12q12 kinesin family member 21A LOC390306 12 similar to Rpl7a protein ABCD2 12q11-q12 ATP-binding cassette, sub-family D (ALD), member 2 FLJ40126 12q12 hypothetical protein FLJ40126 SLC2A13 12p11.23 solute carrier family 2 (facilitated glucose transporter), member 13 DKFZp434H2111 12q12 hypothetical protein DKFZp434H2111 LOC390307 12 similar to submaxillary apomucin MUC19 12q12 mucin 19 CNTN1 12q11.2-q12 contactin 1 DKFZp434B0417 12q12 similar to semaF cytoplasmic domain associated protein 3 LOC283464 12q12 hypothetical protein LOC283464 YAF2 12p11.23 YY1 associated factor 2 LOC283465 12q12 similar to hepatocellular carcinoma autoantigen MADP-1 12q12 MADP-1 protein PPHLN1 12q12 periphilin 1 PRICKLE1 12q12 prickle-like 1 (Drosophila) LOC390308 12 hypothetical gene supported by NM_018464 MRPS36P5 12q12 mitochondrial ribosomal protein S36 pseudogene ADAMTS20 12q12 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20 LOC387852 12 similar to 52 kDa repressor of the inhibitor of the protein kinase (p58IPK-interacting protein) (58 kDa interferon-induced protein kinase-interacting protein) (P52rIPK) (Death associated protein 4) (THAP domain protein 0) LOC390309 12 similar to elongation factor 1 alpha DKFZP434G1415 12q12 hypothetical protein DKFZp434G1415 IRAK4 12q12 interleukin-1 receptor-associated kinase 4 PTK9 12q12 PTK9 protein tyrosine kinase 9 DKFZp434K2435 12q12 hypothetical protein DKFZp434K2435 ZNF75B 12q13 zinc finger protein 75b NELL2 12q13.1-q13.12 NEL-like 2 (chicken) FKSG42 12q12 FKSG42 LOC51054 12q putative glycolipid transfer protein DKFZp313M0720 12q12-q13.11 hypothetical protein DKFZp313M0720 DKFZp686G052 SFRS2IP 12q12-q14.3 splicing factor, arginine/serine-rich 2, interacting protein SLC38A1 12p11.21 solute carrier family 38, member 1 SLC38A2 12q solute carrier family 38, member 2 LOC387853 12 hypothetical gene supported by BC014370
    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!