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PRICKLE1 Gene

protein-coding   GIFtS: 60
GCID: GC12M042852

Prickle Homolog 1 (Drosophila)

(Previous name: prickle-like 1 (Drosophila))
  See PRICKLE1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prickle Homolog 1 (Drosophila)1 2     Prickle-Like 1 (Drosophila)1
RILP2 3 5     Prickle-Like 12
REST/NRSF-Interacting LIM Domain Protein 12 3     Prickle-Like Protein 12
EPM1B2 5     REST (RE-1 Silencing Transcription Factor)/NRSF (Neuron-Restrictive
Silencer Factor)-Interacting LIM Domain Protein2

External Ids:    HGNC: 170191   Entrez Gene: 1441652   Ensembl: ENSG000001391747   OMIM: 6085005   UniProtKB: Q96MT33   

Export aliases for PRICKLE1 gene to outside databases

Previous GC identifers: GC12M042752 GC12M042569 GC12M041139 GC12M039878


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRICKLE1 Gene:
This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway.
The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the
transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus
epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on
chromosome 3. (provided by RefSeq, Sep 2009)

GeneCards Summary for PRICKLE1 Gene:
PRICKLE1 (prickle homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with PRICKLE1 include prickle1-related progressive myoclonus epilepsy with ataxia, and myoclonus epilepsy. An important paralog of this gene is PRICKLE3.

UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
Function: Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and
neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move
mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis
and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear
receptor




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRICKLE1 gene promoter:
         FOXF2   LCR-F1   NF-AT   AREB6   NF-AT4   SRY   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PRICKLE1 promoter sequence
   Search Chromatin IP Primers for PRICKLE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRICKLE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12p11-q12

PRICKLE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRICKLE1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M042852:  view genomic region     (about GC identifiers)

Start:
42,852,140 bp from pter      End:
42,984,157 bp from pter
Size:
132,018 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3 (See protein sequence)
Recommended Name: Prickle-like protein 1 precursor  
Size: 831 amino acids; 94300 Da
Subunit: Interacts with REST
Secondary accessions: Q14C83 Q71QF8 Q96N00

Explore the universe of human proteins at neXtProt for PRICKLE1: NX_Q96MT3

Explore proteomics data for PRICKLE1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PRICKLE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001138353.1  NP_001138354.1  NP_001138355.1  NP_694571.2  

    ENSEMBL proteins: 
     ENSP00000398947   ENSP00000448359   ENSP00000345064   ENSP00000449819   ENSP00000447870  
     ENSP00000446970   ENSP00000446699   ENSP00000401060  
    Reactome Protein details: Q96MT3

    PRICKLE1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PRICKLE1
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    Novus Biologicals PRICKLE1 Protein
    Novus Biologicals PRICKLE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRICKLE1

     
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    antibodies-online proteins for PRICKLE1 (2 products) 

     
    antibodies-online peptides for PRICKLE1

    PRICKLE1 Antibody Products:

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    Abcam antibodies for PRICKLE1 (Q14C83, Q96MT3)
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    antibodies-online antibodies for PRICKLE1 (29 products) 

    PRICKLE1 Assay Products:

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    antibodies-online kits for PRICKLE1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010442 PET_domain
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q96MT3

    ProtoNet protein and cluster: Q96MT3

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
    Similarity: Belongs to the prickle / espinas / testin family
    Similarity: Contains 3 LIM zinc-binding domains
    Similarity: Contains 1 PET domain


    Find genes that share domains with PRICKLE1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRIC1_HUMAN, Q96MT3
    Function: Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and
    neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move
    mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis
    and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear
    receptor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14645515
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with PRICKLE1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PRICKLE1:
     Decreased viability with pacli 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Prickle1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 
     no phenotypic analysis 

    Find genes that share phenotypes with PRICKLE1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PRICKLE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PRICKLE1:
    hsa-mir-215-5p (MIRT024610), hsa-mir-17-5p (MIRT050925), hsa-mir-192-5p (MIRT026529)

    Block miRNA regulation of human, mouse, rat PRICKLE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRICKLE1 (see all 31):
    hsa-miR-323-3p hsa-miR-30c hsa-miR-495 hsa-miR-520d-5p hsa-miR-3651 hsa-miR-200a hsa-miR-3074-3p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidPRICKLE1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PRICKLE1

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    OriGene ORF clones in mouse, rat for PRICKLE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PRICKLE1 (NM_153026)
    Sino Biological Human cDNA Clone for PRICKLE1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRICKLE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRICKLE1
    Addgene plasmids for PRICKLE1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRICKLE1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11969) for PRICKLE1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRIC1_HUMAN, Q96MT3: Nucleus membrane. Cytoplasm, cytosol. Note=A smaller amount is detected in the cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14645515
    GO:0005829cytosol TAS--
    GO:0031965nuclear membrane IDA14645515

    Find genes that share ontologies with PRICKLE1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PRICKLE1 About    
    See pathways by source

    SuperPathContained pathways About
    1beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79
    2CDK-mediated phosphorylation and removal of Cdc6
    Asymmetric localization of PCP proteins0.75
    PCP/CE pathway0.70
    3Signaling by GPCR
    Signal Transduction0.58
    4Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40


    Find genes that share SuperPaths with PRICKLE1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PRICKLE1
        Asymmetric localization of PCP proteins


    1 Kegg Pathway  (Kegg details for PRICKLE1):
        Wnt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including PRICKLE1: 
              WNT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PRICKLE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PRICKLE1 (Q96MT31, 3 ENSP000003450644) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL3Q929971, 3, ENSP000003160544EBI-2348662,EBI-739789 I2D: score=1 STRING: ENSP00000316054
    VIPP012823, ENSP000003562134I2D: score=1 STRING: ENSP00000356213
    DVL2O146413, ENSP000000053404I2D: score=1 STRING: ENSP00000005340
    SMURF2Q9HAU43, ENSP000002624354I2D: score=1 STRING: ENSP00000262435
    DVL1O146403, ENSP000003681694I2D: score=1 STRING: ENSP00000368169
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IMP--
    GO:0006606protein import into nucleus IMP14645515
    GO:0031398positive regulation of protein ubiquitination IDA17030191
    GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA17030191
    GO:0045892negative regulation of transcription, DNA-templated IDA17030191

    Find genes that share ontologies with PRICKLE1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRICKLE1 (PRIC1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRICKLE1 gene (4 alternative transcripts): 
    NM_001144881.1  NM_001144882.1  NM_001144883.1  NM_153026.2  

    Unigene Cluster for PRICKLE1:

    Prickle homolog 1 (Drosophila)
    Hs.524348  [show with all ESTs]
    Unigene Representative Sequence: BC042722
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445766 ENST00000548696 ENST00000345127(uc009zka.2) ENST00000552240
    ENST00000552108 ENST00000551050 ENST00000547113 ENST00000552200 ENST00000455697(uc010skv.2 uc001rnl.3 uc010skw.2 uc001rnm.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat PRICKLE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRICKLE1 (see all 31):
    hsa-miR-323-3p hsa-miR-30c hsa-miR-495 hsa-miR-520d-5p hsa-miR-3651 hsa-miR-200a hsa-miR-3074-3p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidPRICKLE1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PRICKLE1
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    GenScript: all cDNA clones in your preferred vector (see all 4): PRICKLE1 (NM_153026)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRICKLE1
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    Addgene plasmids for PRICKLE1 
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRICKLE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRICKLE1
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      QuantiFast Probe-based Assays in human, mouse, rat PRICKLE1
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    Additional mRNA sequence: BC042722.1 

    2 DOTS entries:

    DT.100751197  DT.114746 

    6 AceView cDNA sequences:

    BC042722 AA743853 BG722975 BE933908 T25315 BV167938 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PRICKLE1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                            -                                                               
    SP2:                                                                                                            
    SP3:              -     -     -     -     -     -                                                               
    SP4:                                -     -     -                                                               
    SP5:              -           -     -     -     -                                                               


    ECgene alternative splicing isoforms for PRICKLE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRICKLE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAATGGTT
    PRICKLE1 Expression
    About this image


    PRICKLE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Autopod Long Bone
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             Vas Deferens
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 7
             Epiblast-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    PRICKLE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRICKLE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524348

    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
    Tissue specificity: Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and
    pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia)

        Pathway & Disease-focused RT2 Profiler PCR Array including PRICKLE1: 
              WNT Signaling Pathway in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRICKLE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PRICKLE1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prickle11 , 5 prickle homolog 1 (Drosophila)1, 5 84.84(n)1
    93.26(a)1
      15 (47.69 cM)5
    1060421  NM_001033217.41  NP_001028389.11 
     934991145 
    chicken
    (Gallus gallus)
    Aves PRICKLE11 prickle homolog 1 (Drosophila) 78.1(n)
    88(a)
      417793  XM_416036.4  XP_416036.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRICKLE16
    prickle homolog 1 (Drosophila)
    82(a)
    1 ↔ 1
    5(55229141-55237674)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982642 LIM protein prickle b 76.42(n)    AY055473.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prickle12 prickle-like 1 (Drosophila) 76.25(n)   368249  AY286492.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta esn6
    pk6
    prickle
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    2R(2973821-3015375)
    2R(3038207-3110885)
    worm
    (Caenorhabditis elegans)
    Secernentea prkl-16
    Protein PRKL-1, isoform a (prkl-1) mRNA, complete ...
    36(a)
    1 → many
    IV(6978775-6986935) WBGene00022727


    ENSEMBL Gene Tree for PRICKLE1 (if available)
    TreeFam Gene Tree for PRICKLE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PRICKLE1 gene
    PRICKLE32  PRICKLE42  LMCD12  TES2  PRICKLE22  
    8 SIMAP similar genes for PRICKLE1 using alignment to 4 protein entries:     PRIC1_HUMAN (see all proteins):
    RILP    PRICKLE2    LMO6    PRICKLE3    DKFZp586B2022    LMCD1
    PRICKLE4    TES

    Find genes that share paralogs with PRICKLE1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PRICKLE1
    PGOHUM00000258624 PGOHUM00000238284


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRICKLE1 (see all 2740)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0655804
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0655802 R H mis40--------
    VAR_0655814
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0655812 Y H mis40--------
    VAR_0546634
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0546632 R Q mis40--------
    rs1139941401,2
    Cpathogenic142705553(-) TCAGCG/AGAAGA 8 /Q /R mis11Minor allele frequency- A:0.00NA 4550
    rs673159531,2
    C--39896690(+) GTCTC-/AAAAAA 4 -- int11Minor allele frequency- A:0.50NA 2
    rs2001317111,2
    C--39947115(-) CATTTA/TAAAAA 1 -- int10--------
    rs107853451,2
    C,A,H--39966709(+) aaaaaA/TaTATA 1 -- int1 trp30--------
    rs1471981931,2
    C--39980478(+) TTTTT-/TT    
       TGGGG
    GGGGT
    1 -- int10--------
    rs1117513081,2
    C--39980480(+) TTTTT-/TGGGG 
            
    GGGGT
    1 -- int11Minor allele frequency- TGGGG:0.00CSA 2
    rs357426881,2
    C--39980948(+) TTTAA-/AT    
       T
    /TTA
    TTATT
    2 -- cds10--------

    HapMap Linkage Disequilibrium report for PRICKLE1 (42852140 - 42984157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PRICKLE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745821CNV Deletion23290073
    esv989438CNV Deletion20482838
    nsv524513CNV Loss19592680
    nsv522388CNV Gain19592680
    nsv832388CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): PRICKLE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRICKLE1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRICKLE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608500   
    OMIM disorders: 612437  
    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
  • Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by
    myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and
    adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of
    neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly,
    myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of
    the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 5 diseases for PRICKLE1:    
    About MalaCards
    prickle1-related progressive myoclonus epilepsy with ataxia    myoclonus epilepsy    progressive myoclonus epilepsy    epilepsy, progressive myoclonic 1a
    myoclonus

    1 disease from the University of Copenhagen DISEASES database for PRICKLE1:
    Progressive myoclonus epilepsy

    Find genes that share disorders with PRICKLE1           About GenesLikeMe

    GeneTests: PRICKLE1
    GeneReviews: PRICKLE1
    Genetic Association Database (GAD): PRICKLE1
    Human Genome Epidemiology (HuGE) Navigator: PRICKLE1 (3 documents)

    Export disorders for PRICKLE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PRICKLE1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with PRICKLE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle. (PubMed id 12525887)1, 2, 3, 9 Katoh M. and Katoh M. (Int. J. Mol. Med. 2003)
    2. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (PubMed id 18976727)1, 2, 3, 9 Bassuk A.G.... El-Shanti H.I. (Am. J. Hum. Genet. 2008)
    3. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. (PubMed id 21901791)1, 2 Bosoi C.M.... Kibar Z. (Hum. Mutat. 2011)
    4. Mutations in prickle orthologs cause seizures in flies, mice, and humans. (PubMed id 21276947)1, 2 Tao H.... Bassuk A.G. (Am. J. Hum. Genet. 2011)
    5. Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. (PubMed id 19252133)1, 4 Perry J.R....Frayling T.M. (Diabetes 2009)
    6. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    7. Towards complete sets of farnesylated and geranylgeranylated proteins. (PubMed id 17411337)1, 2 Maurer-Stroh S....Eisenhaber F. (PLoS Comput. Biol. 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor. (PubMed id 14645515)1, 2 Shimojo M. and Hersh L.B. (Mol. Cell. Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 144165 HGNC: 17019 AceView: PRICKLE1.1 Ensembl:ENSG00000139174 euGenes: HUgn144165
    ECgene: PRICKLE1 Kegg: 144165 H-InvDB: PRICKLE1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PRICKLE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PRICKLE1 gene:
    Search GeneIP for patents involving PRICKLE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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