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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRICKLE1 Gene

protein-coding   GIFtS: 55
GCID: GC12M042852

prickle homolog 1 (Drosophila)

(Previous name: prickle-like 1 (Drosophila) )
 Explore 14 diseases affiliated with
PRICKLE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRICKLE1    

Aliases
for PRICKLE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Prickle Homolog 1 (Drosophila)1 2     Prickle-Like 1 (Drosophila)1
EPM1B1 2 5     Prickle-Like 12
RILP2 3 5     Prickle-Like Protein 12
REST/NRSF-Interacting LIM Domain Protein 12 3     REST (RE-1 Silencing Transcription Factor)/NRSF (Neuron-Restrictive Silencer
Factor)-Interacting LIM Domain Protein2
FLJ319371     

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


Summaries
for PRICKLE1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PRICKLE1:
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)

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




Genomic Views
for PRICKLE1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PRICKLE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PRICKLE1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus membrane. Cytoplasm, cytosol. Note=A smaller amount is detected in the cytosol
Secondary accessions: Q14C83 Q71QF8 Q96N00

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96MT3

    • PRICKLE1 Protein expression data from MOPED and PaxDb:    About this image 
    PRICKLE1 Protein Expression
    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  

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    Novus Biologicals PRICKLE1 Protein
    Novus Biologicals PRICKLE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PRICKLE1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16417580
    GO:0005829cytosol IDA18922795
    GO:0031965nuclear membrane IDA16417580

    PRICKLE1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PRICKLE1

    Protein Domains /
    Families
    for PRICKLE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRICKLE1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010442 PET_domain
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q96MT3

    ProtoNet protein and cluster: Q96MT3

    1 Blocks protein family: 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


    Function
    for PRICKLE1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17030191
    GO:0008134transcription factor binding ----
    GO:0008270zinc ion binding IEA--
         
    PRICKLE1 for ontologies           About GeneDecksing


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

         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Prickle1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 

    PRICKLE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PRICKLE1 

    miRNA
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    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 plasmid: PRICKLE1 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: PRICKLE1
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRICKLE1


    Pathways & Interactions
    for PRICKLE1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    		Wnt signaling pathway0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    PRICKLE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRICKLE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for PRICKLE1 (Q96MT33 ENSP000003450644) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL3Q929973, ENSP000003160544I2D: 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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IMP--
    GO:0006606protein import into nucleus IMP16417580
    GO:0031398positive regulation of protein ubiquitination IDA17030191
    GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA17030191
    GO:0045892negative regulation of transcription, DNA-dependent IDA17030191

    PRICKLE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRICKLE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRICKLE1
    Search CenterWatch for drugs/clinical trials and news about PRICKLE1 / PRIC1 

    Transcripts
    for PRICKLE1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PRICKLE1 gene (4 alternative transcripts): 
    NM_001144881.1  NM_001144882.1  NM_001144883.1  NM_153026.2  

    Unigene Clusters for PRICKLE1:

    Prickle homolog 1 (Drosophila)
    Hs.524348  [show with all ESTs], Hs.720221  [show with all ESTs]
    Unigene Representative Sequences: BC042722, NM_153026
    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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    8/31 QIAGEN miScript miRNA 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 plasmid: PRICKLE1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRICKLE1 (see all 7)
    OriGene shRNA RFP: PRICKLE1
    OriGene siRNA: PRICKLE1
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): PRICKLE1 (NM_153026)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRICKLE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRICKLE1

    Additional cDNA sequence: 

    AF399844.1 AF543759.1 AF543760.1 AK021728.1 AK056189.1 AK056499.1 AK096233.1 AK122877.1 
    AK122881.1 BC114939.1 BC114940.1 

    8 DOTS entries:

    DT.114746  DT.91801369  DT.101972547  DT.100751197  DT.121165687  DT.75176772  DT.91710306  DT.97818147 

    6 AceView cDNA sequences:

    AA743853 BC042722 BG722975 BE933908 T25315 BV167938 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for PRICKLE1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRICKLE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCAATGGTT
    PRICKLE1 Expression
    About this image

    PRICKLE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Long BoneBone
    BrainMedulla OblongataBrain
    Reproductive SystemVas DeferensReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13) 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    See PRICKLE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRICKLE1

    SOURCE GeneReport for Unigene clusters: Hs.524348 Hs.720221

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including PRICKLE1: 
              WNT Signaling Pathway in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for PRICKLE1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PRICKLE1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PRICKLE11 prickle homolog 1 (Drosophila) 78.42(n)
    88.61(a)    		   417793  XM_416036.3  XP_416036.2 
    lizard
    (Anolis carolinensis)    		 Reptilia PRICKLE16
    		 --
    		 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
    		 23(a)
    19(a)
    		 many ↔ many
    many ↔ many
    		 2R(2973821-3015375)
    2R(3038207-3110885)
    worm
    (Caenorhabditis elegans)    		 Secernentea prkl-16
    tes-16
    		 Drosophila PRicKLe homolog family member (prkl-1)
    Temporarily Assigned Gene name family member (tag-...
    		 30(a)
    24(a)
    		 possible ortholog
    possible ortholog
    		 IV(6978764-6986924)
    IV(7449073-7451434)


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

    Paralogs
    for PRICKLE1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRICKLE1 gene
    PRICKLE32  PRICKLE42  LMCD12  PRICKLE22  TES2  
    8 SIMAP similar genes for PRICKLE1 using alignment to 4 protein entries:     PRIC1_HUMAN (see all proteins):
    RILP    PRICKLE2    LMO6    PRICKLE3    DKFZp586B2022    PRICKLE4
    LMCD1    TES

    PRICKLE1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PRICKLE1
    PGOHUM00000258624 PGOHUM00000238284


    Genomic Variants
    for PRICKLE1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2310 NCBI SNPs in PRICKLE1 are shown (see all 2310)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1139941401,2
    		Cpathogenic39890123(-) TCAGCG/AGAAGA 8 /Q /R mis11Minor allele frequency- A:0.00NA 4550
    rs759286041,2
    		C--39878684(+) TGGGAC/TGGCTG 4 -- ds50012Minor allele frequency- T:0.05CSA WA 120
    rs111815131,2
    		--39879360(+) CCCCCA/GCAGGC 4 -- ut310--------
    rs731264591,2
    		C--39879424(+) TCCAGG/TGGTTA 4 -- ut310--------
    rs118330111,2
    		C,F,H--39883191(+) TCTTCC/TTCAAC 4 -- int115Minor allele frequency- T:0.08NS EA NA WA CSA 1514
    rs575864021,2
    		--39884026(+) AAAAAT/AGAGCT 4 -- int11Minor allele frequency- A:0.50CSA 2
    rs1126823291,2
    		--39884351(+) GGGCCA/TATTTT 4 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs123046391,2
    		--39884837(+) ggtctC/Tgaact 4 -- int10--------
    rs760292351,2
    		C--39885624(+) TGCCCA/CTTCGG 8 R M mis10--------
    rs749186111,2
    		C--39886840(+) TCAAAA/CCAGCC 8 W C mis10--------

    HapMap Linkage Disequilibrium report for PRICKLE1 (42852140 - 42984157 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PRICKLE1: --
    Human Gene Mutation Database (HGMD): PRICKLE1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRICKLE1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRICKLE1

    Disorders / Diseases
    for PRICKLE1 gene

    (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.)
    About This Section
    PRICKLE1 for disorders           About GeneDecksing

    OMIM gene information: 608500   
    OMIM disorders: 612437  
    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
  • Defects in PRICKLE1 are the cause of progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]. EPM1B is an
    • autosomal recessive disorder characterized by myoclonus that progresses in severity over time, tonic-clonic seizures
    and ataxia
  • Defects in PRICKLE1 may be a cause of susceptibility to 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

    14 diseases for PRICKLE1:    About MalaCards
    progressive myoclonus epilepsy    myoclonus epilepsy    myoclonus    neural tube defect
    spina bifida    neuronitis    myelomeningocele    anencephaly
    strabismus    ataxia    liver cancer    seizures
    colorectal cancer    cerebritis

    1 disease from the University of Copenhagen DISEASES database for PRICKLE1:
    Progressive myoclonus epilepsy
    GeneTests: PRICKLE1
    Progressive Myoclonus Epilepsy with Ataxia

    Human Genome Epidemiology (HuGE) Navigator: PRICKLE1 (3 documents)

    Export disorders for PRICKLE1 gene to outside databases

    Publications
    for PRICKLE1 gene

    (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)
    About This Section

    PubMed articles for PRICKLE1 gene, integrated from 9 sources (see all 29):
    (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. (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. (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. (2011)
    4. Mutations in prickle orthologs cause seizures in flie s, mice, and humans. (PubMed id 21276947)1, 2 Tao H....Bassuk A.G. (2011)
    5. Towards complete sets of farnesylated and geranylgeranylated proteins. (PubMed id 17411337)1, 2 Maurer-Stroh S....Eisenhaber F. (2007)
    6. 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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor. (PubMed id 14645515)1, 2 Shimojo M. and Hersh L.B. (2003)
    9. Characterization of the REST/NRSF-interacting LIM domain protein (RILP): localization and interaction with REST/NRSF. (PubMed id 16417580)1, 9 Shimojo M. and Hersh L.B. (2006)
    10. Mink1 regulates I^-catenin-independent Wnt signaling v ia Prickle phosphorylation. (PubMed id 22037766)1 Daulat A.M....Angers S. (2012)

    External Searches for PRICKLE1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PRICKLE1 gene

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

    Other Databases showing PRICKLE1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRICKLE1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRICKLE1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PRICKLE1 gene

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



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    About This Section

     
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